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Lista de obras de Hakon Hakonarson

137 ancient human genomes from across the Eurasian steppes

artículo científico publicado en 2018

17q12-21 variants interact with smoke exposure as a risk factor for pediatric asthma but are equally associated with early-onset versus late-onset asthma in North Americans of European ancestry

article

4th Pediatric Allergy and Asthma Meeting (PAAM)

artículo científico publicado en 2016

A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay

artículo científico publicado en 2008

A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF.

artículo científico publicado en 2016

A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites.

artículo científico publicado en 2017

A Pleiotropic Missense Variant in SLC39A8 Is Associated With Crohn's Disease and Human Gut Microbiome Composition

artículo científico publicado en 2016

A Polygenic and Phenotypic Risk Prediction for Polycystic Ovary Syndrome Evaluated by Phenome-Wide Association Studies

artículo científico publicado en 2020

A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier Screening

artículo científico publicado en 2021

A cis-Acting Regulatory Variant in the IL2RA Locus

artículo científico publicado en 2009

A current snapshot of common genomic variants contribution in psychiatric disorders

artículo científico publicado en 2016

A distinct GM-CSF+ T helper cell subset requires T-bet to adopt a TH1 phenotype and promote neuroinflammation

artículo científico publicado en 2020

A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls.

artículo científico publicado en 2013

A genome-wide association meta-analysis identifies new childhood obesity loci

artículo científico publicado en 2012

A genome-wide association meta-analysis of diarrhoeal disease in young children identifies FUT2 locus and provides plausible biological pathways.

artículo científico publicado en 2016

A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations

artículo científico publicado en 2014

A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene

artículo científico publicado en 2007

A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease

artículo científico publicado en 2011

A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24.

artículo científico publicado en 2009

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1

article

A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling

artículo científico publicado en 2017

A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale

artículo científico publicado en 2012

A genome-wide association study of polycystic ovary syndrome identified from electronic health records

scientific article published on 11 April 2020

A genome-wide association study on African-ancestry populations for asthma

artículo científico publicado en 2009

A genome-wide association study on obesity and obesity-related traits

artículo científico publicado en 2011

A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci

scientific journal article

A genome-wide scan for common alleles affecting risk for autism

scientific journal article

A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci

scientific journal article

A genome-wide study reveals copy number variants exclusive to childhood obesity cases

artículo científico publicado en 2010

A homozygous truncating NALCN variant in two Afro-Caribbean siblings with hypotonia and dolichocephaly

artículo científico publicado en 2020

A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region

artículo científico publicado en 2010

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

artículo científico publicado en 2010

A major susceptibility gene for asthma maps to chromosome 14q24

artículo científico publicado en 2002

A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry

artículo científico publicado en 2013

A missense mutation in ANKRD26 segregates with thrombocytopenia

artículo científico publicado en 2013

A novel BHLHE41 variant is associated with short sleep and resistance to sleep deprivation in humans

artículo científico publicado en 2014

A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.

artículo científico publicado en 2016

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

artículo científico publicado en 2011

A novel common variant in DCST2 is associated with length in early life and height in adulthood

artículo científico publicado en 2014

A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study

artículo científico publicado en 2008

A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity

scientific article published on 01 October 2019

A trans-ethnic genome-wide association study identifies gender-specific loci influencing pediatric aBMD and BMC at the distal radius.

artículo científico publicado en 2015

A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction

artículo científico publicado en 2005

A vascular endothelial growth factor A genetic variant is associated with improved ventricular function and transplant-free survival after surgery for non-syndromic CHD.

artículo científico publicado en 2017

AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate

artículo científico publicado en 2014

ANGPT2 genetic variant is associated with trauma-associated acute lung injury and altered plasma angiopoietin-2 isoform ratio.

artículo científico publicado en 2011

ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor

scientific article published on 01 July 2019

ATOM: a powerful gene-based association test by combining optimally weighted markers

artículo científico publicado en 2008

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

artículo científico publicado en 2020

Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms

artículo científico publicado en 2008

Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations

artículo científico publicado en 2014

Advances in the development of genetic markers for the diagnosis of disease and drug response.

artículo científico publicado en 2002

Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis

artículo científico publicado en 2014

Age group and sex differences in performance on a computerized neurocognitive battery in children age 8-21

artículo científico publicado en 2012

Age-Related Effects and Sex Differences in Gray Matter Density, Volume, Mass, and Cortical Thickness from Childhood to Young Adulthood

artículo científico publicado en 2017

An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males

artículo científico publicado en 2011

An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.

artículo científico publicado en 2015

An improved framework for confound regression and filtering for control of motion artifact in the preprocessing of resting-state functional connectivity data

artículo científico publicado en 2012

An integrated expression phenotype mapping approach defines common variants in LEP, ALOX15 and CAPNS1 associated with induction of IL-6

artículo científico publicado en 2009

An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder

artículo científico publicado en 2016

Analysing biological pathways in genome-wide association studies ⬇️

artículo científico publicado el 1 de diciembre de 2010

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.

artículo científico publicado en 2016

Analysis of GWAS top hits in ADHD suggests association to two polymorphisms located in genes expressed in the cerebellum.

artículo científico publicado en 2010

Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions.

artículo científico publicado en 2014

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

artículo científico publicado en 2013

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Aortic coarctation and carotid artery aneurysm in a patient with Hardikar syndrome: Cardiovascular implications for affected individuals.

artículo científico publicado en 2015

Application of ACMG criteria to classify variants in the human gene mutation database

scientific article published on 26 August 2019

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.

artículo científico publicado en 2015

Application of computational methods in genetic study of inflammatory bowel disease

artículo científico publicado en 2016

Application of deep learning algorithm on whole genome sequencing data uncovers structural variants associated with multiple mental disorders in African American patients

artículo científico publicado en 2022

Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family

artículo científico publicado en 2020

Are genetic tests informative in predicting food allergy?

artículo científico publicado en 2016

Are serum brain-derived neurotrophic factor concentrations related to brain structure and psychopathology in late childhood and early adolescence?

scientific article published on 17 December 2019

Ask the experts: pharmacogenomics and genome-wide association studies

artículo científico publicado en 2013

Assessing non-Mendelian inheritance in inherited axonopathies

artículo científico publicado en 2020

Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts

artículo científico publicado en 2014

Association Between Mitochondrial DNA Haplogroup Variation and Autism Spectrum Disorders.

artículo científico publicado en 2017

Association analysis of the FTO gene with obesity in children of Caucasian and African ancestry reveals a common tagging SNP.

artículo científico publicado en 2008

Association analysis of type 2 diabetes Loci in type 1 diabetes.

artículo científico publicado en 2008

Association between Genetic Polymorphisms and Response to Anti-TNFs in Patients with Inflammatory Bowel Disease

artículo científico publicado en 2016

Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population

artículo científico publicado en 2010

Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data

artículo científico publicado en 2014

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records

artículo científico publicado en 2016

Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells

artículo científico publicado en 2015

Association of Genetic Risk of Obesity with Postoperative Complications Using Mendelian Randomization

artículo científico publicado en 2020

Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism.

artículo científico publicado en 2016

Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios

scientific article published on 10 September 2019

Association of Thyroid Function Genetic Predictors With Atrial Fibrillation: A Phenome-Wide Association Study and Inverse-Variance Weighted Average Meta-analysis

scientific article published on 01 February 2019

Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study

artículo científico publicado en 2016

Association of novel rare coding variants with juvenile idiopathic arthritis

artículo científico publicado en 2021

Association of the BANK 1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry.

artículo científico publicado en 2009

Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn's disease

artículo científico publicado en 2007

Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis

scientific article published on 01 July 2008

Association of type 2 diabetes susceptibility loci with one-year weight loss in the look AHEAD clinical trial

artículo científico publicado en 2012

Association of variants of the interleukin-23 receptor gene with susceptibility to pediatric Crohn's disease

artículo científico publicado en 2007

Association of vitamin D binding protein variants with chronic mucus hypersecretion in Iceland

artículo científico

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel

scientific article published on 20 March 2019

Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome

scientific article published on 01 August 2007

Author Correction: 137 ancient human genomes from across the Eurasian steppes

artículo científico publicado en 2018

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

artículo científico publicado en 2019

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

artículo científico publicado en 2009

Autocrine regulation of airway smooth muscle responsiveness

artículo científico publicado en 2003

Autophagy mitigates ethanol-induced mitochondrial dysfunction and oxidative stress in esophageal keratinocytes

scientific article published on 23 September 2020

Autosomal dominant Kenny-Caffey syndrome with congenital hypoparathyroidism, short stature and normal intellect: a case report

artículo científico publicado en 2015

Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization

artículo científico publicado en 2014

Autosomal dominant mannose-binding lectin deficiency is associated with worse neurodevelopmental outcomes after cardiac surgery in infants

artículo científico publicado en 2017

BIOFILTER AS A FUNCTIONAL ANNOTATION PIPELINE FOR COMMON AND RARE COPY NUMBER BURDEN

artículo científico publicado en 2016

BMD-associated variation at the Osterix locus is correlated with childhood obesity in females

artículo científico publicado en 2011

Bayesian analysis of genome-wide inflammatory bowel disease data sets reveals new risk loci

artículo científico publicado en 2017

Bayesian integration of genetics and epigenetics detects causal regulatory SNPs underlying expression variability

artículo científico publicado en 2015

Being right is its own reward: load and performance related ventral striatum activation to correct responses during a working memory task in youth

artículo científico publicado en 2012

Body mass index (BMI) trajectories in infancy differ by population ancestry and may presage disparities in early childhood obesity

artículo científico publicado en 2015

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria

artículo científico publicado en 2013

Breaking new ground in inflammatory bowel disease genetics: genome-wide association studies and beyond

artículo científico publicado en 2010

Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival

artículo científico publicado en 2015

CLEC16A regulates splenocyte and NK cell function in part through MEK signaling

scientific article published in PLoS ONE

CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan Subpopulations

artículo científico publicado en 2015

CNV Association of Diverse Clinical Phenotypes from eMERGE reveals novel disease biology underlying cardiovascular disease

artículo científico publicado en 2019

COVID-19: Look to the Future, Learn from the Past

artículo científico publicado en 2020

CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids

artículo científico publicado en 2016

CYP2B6*6 or Not CYP2B6*6-That Remains a Question for Precision Medicine and Ketamine!

artículo científico publicado en 2016

CYP3A4 Induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients With CYP24A1 Mutations

artículo científico publicado en 2017

CYP3A4 mutation causes vitamin D-dependent rickets type 3

artículo científico publicado en 2018

Can the genetics of type 1 and type 2 diabetes shed light on the genetics of latent autoimmune diabetes in adults?

artículo científico publicado en 2009

Candidate Loci are Revealed by an Initial Genome-wide Association Study of Juvenile Osteochondritis Dissecans.

artículo científico publicado en 2015

Candidate gene analyses for acute pain and morphine analgesia after pediatric day surgery: African American versus European Caucasian ancestry and dose prediction limits

artículo científico publicado en 2019

Candidate gene analysis in an on-going genome-wide association study of attention-deficit hyperactivity disorder: suggestive association signals in ADRA1A.

artículo científico publicado en 2009

Causal Assessment of Serum Urate Levels in Cardiometabolic Diseases Through a Mendelian Randomization Study

artículo científico publicado en 2016

Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis

Causal effects of body mass index on cardiometabolic traits and events: a Mendelian randomization analysis

artículo científico publicado en 2014

Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome

artículo científico publicado en 2022

Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity

artículo científico publicado en 2019

Chromosome 6p22 locus associated with clinically aggressive neuroblastoma

artículo científico publicado en 2008

Ciliopathies: Coloring outside of the lines

artículo científico publicado en 2020

Classification of genetic profiles of Crohn's disease: a focus on the ATG16L1 gene

artículo científico publicado en 2008

Clinical utilization of high-resolution single nucleotide polymorphism based oligonucleotide arrays in diagnostic studies of pediatric patients with solid tumors

artículo científico publicado en 2012

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.

artículo científico publicado en 2018

Common and Dissociable Mechanisms of Executive System Dysfunction Across Psychiatric Disorders in Youth

artículo científico publicado en 2016

Common and Rare Genetic Risk Factors Converge in Protein Interaction Networks Underlying Schizophrenia

scholarly article by Xiao Chang et al published 2018 in Frontiers in Genetics

Common genetic variants in NEFL influence gene expression and neuroblastoma risk

artículo científico publicado en 2014

Common genetic variants on 5p14.1 associate with autism spectrum disorders

artículo científico publicado en 2009

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

artículo científico publicado en 2010

Common variants at 12q15 and 12q24 are associated with infant head circumference

artículo científico publicado en 2012

Common variants at 5q22 associate with pediatric eosinophilic esophagitis

scientific journal article

Common variants at 5q33.1 predispose to migraine in African-American children.

artículo científico publicado en 2018

Common variants at 6q22 and 17q21 are associated with intracranial volume

artículo científico publicado en 2012

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

artículo científico publicado en 2010

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

artículo científico publicado en 2011

Common variants at five new loci associated with early-onset inflammatory bowel disease

artículo científico publicado en 2009

Common variants in HSPB7 and FRMD4B associated with advanced heart failure

artículo científico publicado en 2010

Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk.

artículo científico publicado en 2017

Common variants in polygenic schizophrenia.

artículo científico publicado en 2009

Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma.

artículo científico publicado en 2017

Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma

scientific journal article

Common variation at BARD1 results in the expression of an oncogenic isoform that influences neuroblastoma susceptibility and oncogenicity

artículo científico publicado en 2012

Common variation contributes to the genetic architecture of social communication traits.

artículo científico publicado en 2013

Common variation in ISL1 confers genetic susceptibility for human congenital heart disease

artículo científico publicado en 2010

Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer

artículo científico publicado en 2009

Common variations in BARD1 influence susceptibility to high-risk neuroblastoma

artículo científico publicado en 2009

Comorbidity of physical and mental disorders in the neurodevelopmental genomics cohort study

artículo científico publicado en 2015

Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects

artículo científico publicado en 2010

Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases

artículo científico publicado en 2008

Comprehensive analysis of gene expression in human retina and supporting tissues.

artículo científico

Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies

artículo científico publicado en 2015

Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies

artículo científico publicado en 2008

Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study.

artículo científico publicado en 2017

Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals

artículo científico publicado en 2015

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

artículo científico publicado en 2014

Convergent mechanisms of somatic mutations in polycythemia vera.

artículo científico publicado en 2011

Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy.

artículo científico publicado en 2015

Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications

artículo científico publicado en 2011

Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts

scientific article published on 18 March 2014

Copy number variation analysis reveals additional variants contributing to endometriosis development.

artículo científico publicado en 2016

Copy number variation at 1q21.1 associated with neuroblastoma

artículo científico publicado en 2009

Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.

artículo científico publicado en 2015

Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders

artículo científico publicado en 2017

Copy number variation on chromosome 10q26.3 for obesity identified by a genome-wide study

artículo científico publicado en 2012

Copy number variations in alternative splicing gene networks impact lifespan

artículo científico publicado en 2013

Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status

scientific article published on 20 June 2019

Copy-number disorders are a common cause of congenital kidney malformations

artículo científico publicado en 2012

Correction: A Genome-Wide Association Study on Obesity and Obesity-Related Traits.

artículo científico publicado en 2012

Correction: Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy

artículo científico publicado en 2020

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

artículo científico publicado en 2020

Correction: Two Variants of the C-Reactive Protein Gene Are Associated with Risk of Pre-Eclampsia in an American Indian Population

artículo científico publicado en 2013

Corrigendum: An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder

artículo científico publicado en 2016

Crohn's disease and genetic hitchhiking at IBD5

artículo científico publicado en 2011

Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk ⬇️

scientific article published on 01 October 2019

Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child

artículo científico publicado en 2018

DENND1B gene variants associate with elevated exhaled nitric oxide in healthy high-risk neonates

article

DGCR2 influences cortical thickness through a mechanism independent of schizophrenia pathogenesis

scientific article published on 27 February 2019

Damaging Variants in Proangiogenic Genes Impair Growth in Fetuses with Cardiac Defects

scientific article published on 18 June 2019

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

artículo científico publicado en 2019

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

artículo científico publicado en 2015

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females

scientific article published on 27 November 2020

De novo mutations in histone-modifying genes in congenital heart disease.

artículo científico publicado en 2013

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability

artículo científico publicado en 2020

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

artículo científico publicado en 2014

Detecting multiple differentially methylated CpG sites and regions related to dimensional psychopathology in youths

artículo científico publicado en 2019

Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43,870 individuals from the eMERGE network

Detection of maternal X chromosome abnormalities using single nucleotide polymorphism-based noninvasive prenatal testing

artículo científico publicado en 2020

Directional dominance on stature and cognition in diverse human populations

artículo científico publicado en 2015

Discovery Of The First Genome-Wide Significant Risk Loci For ADHD

scholarly article published 3 June 2017

Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium.

artículo científico publicado en 2017

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

artículo científico publicado en 2018

Distinct features of SARS-CoV-2-specific IgA response in COVID-19 patients

artículo científico publicado en 2020

Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease

artículo científico publicado en 2009

Dominant form of congenital hyperinsulinism maps to HK1 region on 10q.

scientific article published on 13 July 2013

Drug-resistant epilepsy classified by a phenotyping algorithm associates with NTRK2

scientific article published on 20 June 2019

Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single-nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene

artículo científico publicado en 2008

Duplication of the SLIT3 locus on 5q35.1 predisposes to major depressive disorder

artículo científico publicado en 2010

Dynamic Bayesian testing of sets of variants in complex diseases

artículo científico publicado en 2014

ERRATUM: Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

article by Matthew B. Lanktree et al published June 2012 in American Journal of Human Genetics

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.

artículo científico publicado en 2016

Effect of parental origin of damaging variants in pro-angiogenic genes on fetal growth in patients with congenital heart defects: Data and analyses

artículo científico publicado en 2019

Effects of a 5-lipoxygenase-activating protein inhibitor on biomarkers associated with risk of myocardial infarction: a randomized trial

artículo científico publicado en 2005

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study

artículo científico publicado en 2014

Effects of the brain-derived neurotropic factor variant Val66Met on cortical structure in late childhood and early adolescence

artículo científico publicado en 2017

Effects of the interaction between genetic factors and maltreatment on child and adolescent psychiatric disorders

artículo científico publicado en 2019

Electronic Health Record Based Algorithm to Identify Patients with Autism Spectrum Disorder

artículo científico publicado en 2016

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

artículo científico publicado en 2013

Epistasis amongst PTPN2 and genes of the vitamin D pathway contributes to risk of juvenile idiopathic arthritis

artículo científico publicado en 2014

Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.

artículo científico publicado en 2014

Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments

artículo científico publicado en 2016

Erratum to: Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence.

artículo científico publicado en 2016

Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.

artículo científico publicado en 2017

Erratum: Common variants at 12q15 and 12q24 are associated with infant head circumference

scholarly article published in Nature Genetics

Erratum: Common variants at 6q22 and 17q21 are associated with intracranial volume

article

Erratum: Corrigendum: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

scholarly article published in Nature Genetics

Etiology of autism spectrum disorder: a genomics perspective

artículo científico publicado en 2014

European genetic ancestry associated with risk of childhood ependymoma

artículo científico publicado en 2020

Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel

artículo científico publicado en 2020

Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis

artículo científico publicado en 2012

Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants

scientific article published on 20 September 2020

Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene.

artículo científico publicado en 2013

Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI.

artículo científico publicado en 2009

Examination of genetic variants influencing lipid traits in pediatric populations.

artículo científico publicado en 2012

Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene.

artículo científico publicado en 2009

Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism

artículo científico publicado en 2017

Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications

artículo científico publicado en 2011

Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment

artículo científico publicado en 2020

Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.

artículo científico publicado en 2014

Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy

artículo científico publicado en 2017

Expanding the Genetic Landscape of Usher-Like Phenotypes

artículo científico publicado en 2019

Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

artículo científico publicado en 2014

Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.

artículo científico publicado en 2017

Expression Pattern of the SARS-CoV-2 Entry Genes ACE2 and TMPRSS2 in the Respiratory Tract

artículo científico publicado en 2020

Familial aggregation of atrial fibrillation in Iceland

artículo científico publicado en 2006

Familial predisposition and cosegregation analysis of adult obstructive sleep apnea and the sudden infant death syndrome

artículo científico publicado en 2002

Fasoracetam in adolescents with ADHD and glutamatergic gene network variants disrupting mGluR neurotransmitter signaling.

artículo científico publicado en 2018

Fatty-acid binding protein 4 gene polymorphisms and plasma levels in children with obstructive sleep apnea

artículo científico publicado en 2011

First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes

artículo científico publicado en 2018

Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes

artículo científico publicado en 2008

Food allergen triggers are increased in children with the TSLP risk allele and eosinophilic esophagitis.

artículo científico publicado en 2018

Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants

artículo científico publicado en 2013

From disease association to risk assessment: an optimistic view from genome-wide association studies on type 1 diabetes.

artículo científico publicado en 2009

From schizophrenia risk locus to schizophrenia genes

artículo científico publicado en 2016

Functional impact of global rare copy number variation in autism spectrum disorders

artículo científico publicado en 2010

Functional maturation of the executive system during adolescence

artículo científico publicado en 2013

Functional neuroimaging abnormalities in youth with psychosis spectrum symptoms

artículo científico publicado en 2015

GATA factors promote ER integrity and β-cell survival and contribute to type 1 diabetes risk.

artículo científico publicado en 2013

GDF15 is a heart-derived hormone that regulates body growth

artículo científico publicado en 2017

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers

scientific journal article

GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network

scientific article published on 17 July 2019

GWAS identifies four novel eosinophilic esophagitis loci

artículo científico publicado en 2014

GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus

artículo científico publicado en 2013

GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children

artículo científico publicado en 2012

GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI

artículo científico publicado en 2019

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

article

Gene expression and genetic variation in human atria

artículo científico publicado en 2013

Gene expression over the course of schizophrenia: from clinical high-risk for psychosis to chronic stages

article

Gene network analysis in a pediatric cohort identifies novel lung function genes

artículo científico publicado en 2013

Gene-Centric Analysis of Preeclampsia Identifies Maternal Association at PLEKHG1

artículo científico publicado en 2018

Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects

artículo científico publicado en 2020

Gene-based genome-wide association studies and meta-analyses of conotruncal heart defects

artículo científico publicado en 2019

Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations

artículo científico publicado en 2013

Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals

artículo científico publicado en 2012

Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci

artículo científico publicado en 2014

Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations

artículo científico publicado en 2012

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

artículo científico publicado en 2014

Genes involved in type 1 diabetes: an update

artículo científico publicado en 2013

Genetic Architecture of Abdominal Aortic Aneurysm in the Million Veteran Program

scientific article published on 28 September 2020

Genetic Discrimination Between LADA and Childhood-Onset Type 1 Diabetes Within the MHC

scientific article published on 16 December 2019

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

artículo científico publicado en 2017

Genetic Evidence for Causal Relationships Between Maternal Obesity-Related Traits and Birth Weight

artículo científico publicado en 2016

Genetic Reduction in Left Ventricular Protein Kinase C-α and Adverse Ventricular Remodeling in Human Subjects

Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity

scientific article published on 11 September 2020

Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder

article published in 2015

Genetic Underpinnings of Asthma and Related Traits

Genetic analyses in asthma: current concepts and future directions

artículo científico publicado en 2002

Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing

artículo científico publicado en 2017

Genetic approaches to assessing evidence for a T helper type 1 cytokine defect in adult asthma

artículo científico publicado en 2004

Genetic architecture of early childhood growth phenotypes gives insights into their link with later obesity

Genetic architecture study of rheumatoid arthritis and juvenile idiopathic arthritis

scientific article published on 15 January 2020

Genetic comparison of sickle cell anaemia cohorts from Brazil and the United States reveals high levels of divergence

artículo científico publicado en 2019

Genetic correlations among psychiatric and immune-related phenotypes based on genome-wide association data

scientific article published on 16 October 2018

Genetic determinants of pediatric inflammatory bowel disease: is age of onset genetically determined?

artículo científico publicado en 2009

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

artículo científico publicado en 2019

Genetic polymorphisms and associated susceptibility to asthma

artículo científico publicado en 2013

Genetic predictors of bronchial reactivity in adult Chinese females

abstract published in 2010

Genetic predisposition to longer telomere length and risk of childhood, adolescent and adult-onset ependymoma

scientific article published on 28 October 2020

Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism.

artículo científico publicado en 2015

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

artículo científico publicado en 2013

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

artículo científico publicado en 2011

Genetic risk for Alzheimer's disease and functional brain connectivity in children and adolescents

artículo científico publicado en 2019

Genetic sharing and heritability of paediatric age of onset autoimmune diseases.

artículo científico publicado en 2015

Genetic underpinnings of obstructive sleep apnea: are we making progress?

artículo científico publicado en 2011

Genetic variance in nitric oxide synthase and endothelin genes among children with and without endothelial dysfunction

artículo científico publicado en 2013

Genetic variants in major histocompatibility complex-linked genes associate with pediatric liver transplant rejection.

artículo científico publicado en 2008

Genetic variants influencing circulating lipid levels and risk of coronary artery disease

artículo científico publicado en 2010

Genetic variation in genes encoding airway epithelial potassium channels is associated with chronic rhinosinusitis in a pediatric population.

artículo científico publicado en 2014

Genetics of Inflammatory Bowel Diseases

article

Genome wide association (GWA) predictors of anti-TNFalpha therapeutic responsiveness in pediatric inflammatory bowel disease

artículo científico publicado en 2010

Genome wide association identifies PPFIA1 as a candidate gene for acute lung injury risk following major trauma

artículo científico publicado en 2012

Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.

artículo científico publicado en 2017

Genome-Wide Association Study Identifies African-Specific Susceptibility Loci in African Americans With Inflammatory Bowel Disease.

artículo científico publicado en 2016

Genome-Wide Association Study Reveals First Locus for Anorexia Nervosa and Metabolic Correlations

scholarly article

Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk

scientific article published on 29 July 2020

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

article

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes

artículo científico publicado en 2009

Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3.

artículo científico publicado en 2012

Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene

scientific journal article

Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index

artículo científico publicado en 2015

Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23

artículo científico publicado en 2021

Genome-wide association analysis of psoriasis patients treated with anti-TNF drugs

artículo científico publicado en 2020

Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network

artículo científico publicado en 2013

Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity

artículo científico publicado en 2013

Genome-wide association identifies diverse causes of common variable immunodeficiency

artículo científico publicado en 2011

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

artículo científico publicado en 2009

Genome-wide association studies (GWAS): impact on elucidating the aetiology of diabetes.

scientific article published on October 2011

Genome-wide association studies in type 1 diabetes

artículo científico publicado en 2009

Genome-wide association studies in type 1 diabetes, inflammatory bowel disease and other immune-mediated disorders.

artículo científico publicado en 2009

Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes.

artículo científico publicado en 2011

Genome-wide association study (GWAS) approaches to sleep phenotypes

Genome-wide association study for acute otitis media in children identifies FNDC1 as disease contributing gene

artículo científico publicado en 2016

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.

artículo científico publicado en 2019

Genome-wide association study identifies novel type II diabetes risk loci in Jordan subpopulations

artículo científico publicado en 2017

Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations

artículo científico publicado en 2014

Genome-wide association study of maternal and inherited loci for conotruncal heart defects

artículo científico publicado en 2014

Genome-wide association study of multiplex schizophrenia pedigrees.

artículo científico publicado en 2012

Genome-wide association study of offspring birth weight in 86,577 women highlights maternal genetic effects that are independent of fetal genetics

article

Genome-wide association study of offspring birth weight in 86,577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics

artículo científico publicado en 2018

Genome-wide association study of serum minerals levels in children of different ethnic background

artículo científico publicado en 2015

Genome-wide association study reveals two loci for serum magnesium concentrations in European-American children.

artículo científico publicado en 2015

Genome-wide association: from confounded to confident.

artículo científico publicado en 2011

Genome-wide associations for birth weight and correlations with adult disease

artículo científico publicado en 2016

Genome-wide copy number analysis in a family with p.G533C RET mutation and medullary thyroid carcinoma identified regions potentially associated with a higher predisposition to lymph node metastasis

artículo científico publicado en 2014

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

artículo científico publicado en 2011

Genome-wide investigation of schizophrenia associated plasma Ndel1 enzyme activity.

artículo científico publicado en 2016

Genome-wide linkage analysis to identify genetic modifiers of ALK mutation penetrance in familial neuroblastoma

artículo científico publicado en 2011

Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes

artículo científico publicado en 2014

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

artículo científico publicado en 2010

Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa

artículo científico publicado en 2018

Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3.

artículo científico publicado en 2010

Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors

artículo científico publicado en 2009

Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy.

artículo científico publicado en 2009

Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy.

artículo científico publicado en 2009

Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.

artículo científico publicado en 2016

Genomic landscape of a three-generation pedigree segregating affective disorder

artículo científico publicado en 2009

Genomic risk scores for juvenile idiopathic arthritis and its subtypes

scientific article published on 04 September 2020

Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma

artículo científico publicado en 2019

HMG-coenzyme A reductase inhibition, type 2 diabetes, and bodyweight: evidence from genetic analysis and randomised trials

artículo científico publicado en 2014

Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs

article

Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence

artículo científico publicado en 2014

Heritability and genome-wide association study of benign prostatic hyperplasia (BPH) in the eMERGE network

artículo científico publicado en 2019

Heterogeneous impact of motion on fundamental patterns of developmental changes in functional connectivity during youth

artículo científico publicado en 2013

Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964).

artículo científico publicado en 2017

Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism

scientific article published on 01 November 2018

High loading of polygenic risk for ADHD in children with comorbid aggression

artículo científico publicado en 2013

High prevalence of elevated serum liver enzymes in Chinese children suggests metabolic syndrome as a common risk factor

artículo científico publicado en 2020

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

artículo científico publicado en 2009

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

scientific article published on 02 December 2020

Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations

article

Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency

artículo científico publicado en 2020

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease

artículo científico publicado en 2012

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

artículo científico publicado en 2017

Hyaluronan synthase 3 variant and anthracycline-related cardiomyopathy: a report from the children's oncology group.

artículo científico publicado en 2014

Identification of ALK as a major familial neuroblastoma predisposition gene

artículo científico publicado en 2008

Identification of Four Novel Loci in Asthma in European American and African American Populations

artículo científico publicado en 2016

Identification of Target Genes at Juvenile Idiopathic Arthritis GWAS Loci in Human Neutrophils

article

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

artículo científico publicado en 2011

Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population

artículo científico publicado en 2014

Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population

artículo científico publicado en 2013

Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR)

artículo científico publicado en 2015

Imaging patterns of brain development and their relationship to cognition

artículo científico publicado en 2014

Impact of exome sequencing in inflammatory bowel disease

artículo científico publicado en 2013

Impact of in-scanner head motion on multiple measures of functional connectivity: relevance for studies of neurodevelopment in youth

artículo científico publicado en 2012

Impact of puberty on the evolution of cerebral perfusion during adolescence

artículo científico publicado en 2014

Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies ⬇️

artículo científico publicado el 1 de enero de 2011

Implications of an admixed Brazilian population in schizophrenia polygenic risk score

scientific article published on 26 July 2018

Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypes

artículo científico publicado en 2014

In silico replication of the genome-wide association results of the Type 1 Diabetes Genetics Consortium.

artículo científico publicado en 2010

Increased expression of peripheral blood leukocyte genes implicate CD14+ tissue macrophages in cellular intestine allograft rejection.

artículo científico publicado en 2011

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data

artículo científico publicado en 2014

Increasing diagnostic yield by RNA-Sequencing in rare disease-bypass hurdles of interpreting intronic or splice-altering variants.

artículo científico publicado en 2018

Individual common variants exert weak effects on the risk for autism spectrum disorders

scientific journal article

Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female‐Specific Health Conditions

artículo científico publicado en 2023

Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.

artículo científico publicado en 2014

Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study

artículo científico publicado en 2015

Integrative genomics identifies LMO1 as a neuroblastoma oncogene

artículo científico publicado en 2010

Interpretation of association signals and identification of causal variants from genome-wide association studies

artículo científico publicado en 2010

Intragenic deletions of GNAS in pseudohypoparathyroidism type 1A identify a new region affecting methylation of exon A/B

scientific article published on 21 May 2020

Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study

artículo científico publicado en 2016

Investigation of the locus near MC4R with childhood obesity in Americans of European and African ancestry

artículo científico publicado en 2009

Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum

artículo científico publicado en 2019

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

artículo científico publicado en 2018

Kaposiform lymphangiomatosis effectively treated with MEK inhibition

artículo científico publicado en 2020

Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies

artículo científico publicado en 2010

Large copy-number variations are enriched in cases with moderate to extreme obesity.

artículo científico publicado en 2010

Large sample size, wide variant spectrum, and advanced machine-learning technique boost risk prediction for inflammatory bowel disease

artículo científico publicado en 2013

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci

artículo científico publicado en 2012

Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci

artículo científico publicado en 2012

Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c

artículo científico publicado en 2016

Learning-dependent chromatin remodeling highlights noncoding regulatory regions linked to autism

artículo científico publicado en 2018

Leprosy and the adaptation of human toll-like receptor 1.

artículo científico publicado en 2010

Leveraging electronic health records to assess the role of ADRB2 single nucleotide polymorphisms in predicting exacerbation frequency in asthma patients

article

Linkage to apnea-hypopnea index across the life-span: is this a viable strategy?

artículo científico publicado en 2004

Linked Sex Differences in Cognition and Functional Connectivity in Youth.

artículo científico publicado en 2014

LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data

scientific article published on 06 December 2019

Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array

artículo científico publicado en 2015

Loci identified by a genome-wide association study of carotid artery stenosis in the eMERGE network

scientific article published on 22 September 2020

Loci influencing blood pressure identified using a cardiovascular gene-centric array

artículo científico publicado en 2013

Loci influencing blood pressure identified using a cardiovascular gene-centric array.

artículo científico publicado en 2013

Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease

artículo científico publicado en 2008

Loss of EGFR-ASAP1 signaling in metastatic and unresectable hepatoblastoma.

artículo científico publicado en 2016

Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy

artículo científico publicado en 2017

Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation

artículo científico publicado en 2011

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

artículo científico publicado en 2014

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

artículo científico publicado en 2013

Low frequency and rare coding variation contributes to multiple sclerosis risk

Machine learning derived risk prediction of anorexia nervosa

artículo científico publicado en 2016

Making the genomic leap in HCT: application of second-generation sequencing to clinical advances in hematopoietic cell transplantation

artículo científico publicado en 2014

Making work visible for electronic phenotype implementation: Lessons learned from the eMERGE network

artículo científico publicado en 2019

Mapping the 17q12-21.1 Locus for Variants Associated with Early-onset Asthma in African Americans

scientific article published on 23 September 2020

Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency.

artículo científico publicado en 2011

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

artículo científico publicado en 2019

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

artículo científico publicado en 2010

Mendelian randomization analysis demonstrates that low vitamin D is unlikely causative for pediatric asthma

artículo científico publicado en 2016

Meta-Analysis of Genome-Wide Association Studies of Attention-Deficit/Hyperactivity Disorder ⬇️

artículo científico publicado el 1 de agosto de 2010

Meta-analysis and imputation refines the association of 15q25 with smoking quantity

artículo científico publicado en 2010

Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes

artículo científico publicado en 2010

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

scientific journal article

Meta-analysis identifies seven susceptibility loci involved in the atopic march

artículo científico publicado en 2015

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

artículo científico publicado en 2010

Meta-analysis of genetic association with diagnosed Alzheimer's disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis

artículo científico publicado en 2012

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases

artículo científico publicado en 2015

Methylation Microarray Studies Highlight PDGFA Expression as a Factor in Biliary Atresia

artículo científico publicado en 2016

Microarray technology and applications in the arena of genome-wide association.

artículo científico publicado en 2008

Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.

artículo científico publicado en 2011

Microduplications at the 15q11.2 BP1-BP2 locus are enriched in patients with anorexia nervosa

artículo científico publicado en 2019

Midazolam Dose Optimization in Critically Ill Pediatric Patients With Acute Respiratory Failure: A Population Pharmacokinetic-Pharmacogenomic Study

scientific article published on 01 April 2019

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment

scientific article published on 03 October 2019

Mitochondrial DNA haplogroups and risk of attention deficit and hyperactivity disorder in European Americans

scientific article published on 02 November 2020

Mitochondrial DNA haplogroups and susceptibility to neuroblastoma

artículo científico publicado en 2020

Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy.

artículo científico publicado en 2011

Modeling genetic inheritance of copy number variations.

artículo científico publicado en 2008

Modulatory effects of TAOK3 variants on morphine requirement in acute postoperative pain: an early genome wide association study contribution to the field of pediatric pain

artículo científico publicado en 2014

Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients

artículo científico publicado en 2010

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions

artículo científico publicado en 2017

Morphine Dose Optimization in Critically Ill Pediatric Patients With Acute Respiratory Failure: A Population Pharmacokinetic-Pharmacogenomic Study

artículo científico publicado en 2019

Mosaic trisomy 17: variable clinical and cytogenetic presentation

scientific article published on 01 October 2011

Mucosal plasma cell barrier disruption during intestine transplant rejection.

artículo científico

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

artículo científico publicado en 2015

Multiple Epistasis Interactions Within MHC Are Associated With Ulcerative Colitis

scientific article published on 03 April 2019

Multiple testing in genome-wide association studies via hidden Markov models

artículo científico publicado en 2009

Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.

artículo científico publicado en 2016

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia

artículo científico publicado en 2015

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis

artículo científico publicado en 2013

Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.

artículo científico publicado en 2017

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

artículo científico publicado en 2014

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

artículo científico publicado en 2016

Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum

artículo científico publicado en 2013

Mutations in topoisomerase IIβ result in a B cell immunodeficiency

artículo científico publicado en 2019

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

artículo científico publicado en 2019

NOD2 gene polymorphism rs2066844 associates with need for combined liver-intestine transplantation in children with short-gut syndrome

artículo científico

Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene

scientific article published on 07 September 2019

Neurocognitive growth charting in psychosis spectrum youths

artículo científico publicado en 2014

Neuroimaging of the Philadelphia neurodevelopmental cohort

artículo científico publicado en 2013

Neuroinflammation and EIF2 Signaling Persist despite Antiretroviral Treatment in an hiPSC Tri-culture Model of HIV Infection

scientific article published on 06 March 2020

Neuroinflammation and EIF2 Signaling Persist despite Antiretroviral Treatment in an hiPSC Tri-culture Model of HIV Infection

scientific article published on 01 May 2020

Neutral mitochondrial heteroplasmy and the influence of aging ⬇️

artículo científico publicado el 4 de febrero de 2011

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

artículo científico publicado en 2012

Nocturnal enuresis: a suggestive endophenotype marker for a subgroup of inattentive attention-deficit/hyperactivity disorder.

artículo científico publicado en 2009

Non-coding RNA dysregulation in the amygdala region of schizophrenia patients contributes to the pathogenesis of the disease

artículo científico publicado en 2018

Non-coding structural variation differentially impacts attention-deficit hyperactivity disorder (ADHD) gene networks in African American vs Caucasian children

scientific article published on 17 September 2020

Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia

scientific article published on 01 March 2010

Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus

artículo científico publicado en 2013

Novel KITLG/SCF Regulatory Variants Are Associated with Lung Function in African American Children with Asthma

artículo científico publicado en 2020

Novel late-onset Alzheimer disease loci variants associate with brain gene expression

artículo científico publicado en 2012

Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits

artículo científico publicado en 2020

Novel locus for atopic dermatitis in African Americans and replication in European Americans

artículo científico publicado en 2018

ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry.

artículo científico publicado en 2008

Obesity-susceptibility loci and the tails of the pediatric BMI distribution.

artículo científico publicado en 2013

PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study

artículo científico publicado en 2016

PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.

artículo científico publicado en 2013

Pain versus analgesia: TAOK3 as a pharmacogene

artículo científico publicado en 2017

Parental ADHD status and its association with proband ADHD subtype and severity

scientific article published on 14 July 2010

Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency

artículo científico publicado en 2019

ParseCNV integrative copy number variation association software with quality tracking.

artículo científico publicado en 2013

Participant choices for return of genomic results in the eMERGE Network

artículo científico publicado en 2020

Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly

scholarly article by Dong Li published in June 2018

Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure.

artículo científico publicado en 2019

Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions.

artículo científico publicado en 2015

Pathway-Based Genome-Wide Association Studies for Plasma Triglycerides in Obese Females and Normal-Weight Controls

artículo científico publicado en 2015

Pathway-Based Genome-wide Association Studies Reveal That the Rac1 Pathway Is Associated with Plasma Adiponectin Levels.

artículo científico publicado en 2015

Pathway-Wide Association Study Implicates Multiple Sterol Transport and Metabolism Genes in HDL Cholesterol Regulation.

artículo científico publicado en 2011

Pathway-based Genome-wide Association Studies Reveal the Association Between Growth Factor Activity and Inflammatory Bowel Disease.

artículo científico publicado en 2016

Patient genotypes impact survival after surgery for isolated congenital heart disease

artículo científico publicado en 2014

Perindopril treatment promote left ventricle remodeling in patients with heart failure screened positive for autoantibodies against angiotensin II type 1 receptor

artículo científico publicado en 2013

Pharmacogenetics and functional genomics in asthma

artículo científico publicado en 2009

Phasing of many thousands of genotyped samples

artículo científico publicado en 2012

Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9

scientific article published on 29 October 2019

Phenome-wide association studies across large population cohorts support drug target validation

scientific article published in Nature Communications

Phenotype restricted genome-wide association study using a gene-centric approach identifies three low-risk neuroblastoma susceptibility Loci.

artículo científico publicado en 2011

Phenotype specific association of the TGFBR3 locus with nonsyndromic cryptorchidism.

artículo científico publicado en 2014

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes ⬇️

journal article from 'European Journal of Medical Genetics' published in 2018

Planning a genome-wide association study: points to consider

scientific article published on 19 May 2011

Polygenic Risk Score for Alzheimer's Disease: Implications for Memory Performance and Hippocampal Volumes in Early Life.

artículo científico publicado en 2018

Population genomics of drug response

artículo científico publicado en 2004

Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia

artículo científico publicado en 2010

Practical challenges in integrating genomic data into the electronic health record

artículo científico publicado en 2013

Practical considerations in genomic decision support: The eMERGE experience

artículo científico publicado en 2015

Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups

scientific article published on 01 May 2020

Profiling of genes expressed in peripheral blood mononuclear cells predicts glucocorticoid sensitivity in asthma patients

artículo científico publicado en 2005

Progress in understanding type 1 diabetes through its genetic overlap with other autoimmune diseases.

artículo científico publicado en 2015

Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming

artículo científico publicado en 2014

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2017

Proteomics screen to reveal molecular changes mediated by C722G missense mutation in CHRM2 gene

artículo científico publicado en 2013

Psychometric properties of the Penn Computerized Neurocognitive Battery

artículo científico publicado en 2014

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2019

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

artículo científico publicado en 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

artículo científico publicado en 2018

RAD21 mutations cause a human cohesinopathy

artículo científico publicado en 2012

Ranking causal variants and associated regions in genome-wide association studies by the support vector machine and random forest ⬇️

artículo científico publicado el 11 de febrero de 2011

Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes

scientific article published on 31 January 2020

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

artículo científico publicado en 2017

Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations

scientific article published on 14 January 2020

Rare copy number variants in patients with congenital conotruncal heart defects.

artículo científico publicado en 2017

Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism

artículo científico publicado en 2011

Rare genomic deletions and duplications and their role in neurodevelopmental disorders.

artículo científico

Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4

artículo científico publicado en 2021

Rare variants at 16p11.2 are associated with common variable immunodeficiency

artículo científico publicado en 2015

Rare variants in TP53 and susceptibility to neuroblastoma.

artículo científico publicado en 2014

Rarity of the Alzheimer disease-protective APP A673T variant in the United States

artículo científico publicado en 2015

Recent advances in the genetics and genomics of asthma and related traits

artículo científico publicado en 2010

Recent development in genomic and proteomic research for asthma

artículo científico publicado en 2004

Recent development in pharmacogenomics: from candidate genes to genome-wide association studies.

artículo científico publicado en 2007

Regulation of Janus Kinase 2 by an Inflammatory Bowel Disease Causal Non-coding Single Nucleotide Polymorphism

scientific article published on 09 April 2020

Relative contribution of type 1 and type 2 diabetes loci to the genetic etiology of adult-onset, non-insulin-requiring autoimmune diabetes

artículo científico publicado en 2017

Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility

artículo científico publicado en 2012

Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia

artículo científico publicado en 2013

Replication of neuroblastoma SNP association at the BARD1 locus in African-Americans

artículo científico publicado en 2012

Reply to Joel and Tarrasch: On misreading and shooting the messenger

artículo científico publicado en 2014

Research with Arctic peoples: unique research opportunities in heart, lung, blood and sleep disorders. Working group summary and recommendations

artículo científico publicado en 2006

Results of genome-wide analyses on neurodevelopmental phenotypes at four-year follow-up following cardiac surgery in infancy

artículo científico publicado en 2012

Risk of preeclampsia in patients with maternal genetic predisposition to common medical conditions: a case-control study

scientific article published on 02 August 2020

Role of BMI-associated loci identified in GWAS meta-analyses in the context of common childhood obesity in European Americans

artículo científico publicado en 2011

Role of FLAP and PDE4D in myocardial infarction and stroke: target discovery and future treatment options

artículo científico publicado en 2006

Role of cytokines in systemic lupus erythematosus: recent progress from GWAS and sequencing

artículo científico publicado en 2012

Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome

scientific article published on 22 April 2020

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

artículo científico publicado en 2016

SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation

scientific article published on March 2009

SNVer: a statistical tool for variant calling in analysis of pooled or individual next-generation sequencing data

artículo científico publicado en 2011

Sex differences in the effect of puberty on hippocampal morphology

artículo científico publicado en 2013

Sex differences in the structural connectome of the human brain

artículo científico publicado en 2013

Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

artículo científico publicado en 2020

Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene

artículo científico publicado en 2017

Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes

scientific article published on 14 October 2013

Strategies for Genetic Studies of Complex Diseases ⬇️

artículo científico publicado el 6 de agosto de 2010

Strategies for Studying the Epilepsy Genome

Stress and Bronchodilator Response in Children with Asthma

artículo científico publicado en 2015

Strong synaptic transmission impact by copy number variations in schizophrenia

artículo científico publicado en 2010

Structural Brain Abnormalities in Youth With Psychosis Spectrum Symptoms

artículo científico publicado en 2016

Structural variations in attention-deficit hyperactivity disorder

artículo científico publicado en 2011

Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant

artículo científico publicado en 2016

Systematic review and meta-analysis of the association between {beta}2-adrenoceptor polymorphisms and asthma: a HuGE review.

artículo científico publicado en 2005

Systemic juvenile idiopathic arthritis is associated with HLA-DRB1 in Europeans and Americans of European descent

artículo científico publicado en 2012

T lymphocyte-mediated changes in airway smooth muscle responsiveness are attributed to induced autocrine release and actions of IL-5 and IL-1beta

artículo científico publicado en 2002

TAOK3, a novel genome-wide association study locus associated with morphine requirement and postoperative pain in a retrospective pediatric day surgery population

artículo científico publicado en 2014

TNFAIP8 controls murine intestinal stem cell homeostasis and regeneration by regulating microbiome-induced Akt signaling

scientific article published on 22 May 2020

TUBB4A de novo mutations cause isolated hypomyelination

artículo científico publicado en 2014

Target Genes of Autism Risk Loci in Brain Frontal Cortex

scientific article published on 09 August 2019

The Added Value of Family Material in the Discovery of Multiple Sclerosis Genes.

artículo científico publicado en 2016

The Autoimmune Disorder Susceptibility Gene Restrains NK Cell Function in YTS NK Cell Line and Knockout Mice

article

The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future

artículo científico publicado en 2013

The Genetic Contribution to Type 1 Diabetes

scientific article published on 04 November 2019

The Infection Rate of the Coronavirus Disease 2019 (COVID-19) in Wuhan, China

artículo científico publicado en 2020

The Infection Rate of the Coronavirus Disease 2019 (COVID-19) in Wuhan, China: a Combined Analysis of Population Samples

scientific article published on 22 July 2020

The Long Noncoding RNA Landscape in Amygdala Tissues from Schizophrenia Patients

The Multi-Omics Architecture of Juvenile Idiopathic Arthritis

artículo científico publicado en 2020

The Multiple Sclerosis Genomic Map: Role of peripheral immune cells and resident microglia in susceptibility

scholarly article published 13 July 2017

The PCDH1 gene and asthma in early childhood

artículo científico publicado en 2013

The Philadelphia Neurodevelopmental Cohort: A publicly available resource for the study of normal and abnormal brain development in youth

artículo científico publicado en 2015

The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative

artículo científico publicado en 2015

The Role of ARF6 in Biliary Atresia.

artículo científico publicado en 2015

The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder

artículo científico publicado en 2016

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

artículo científico publicado en 2018

The diabetes susceptibility gene Clec16a regulates mitophagy

scientific journal article

The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype

scientific article published on 08 October 2018

The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke

article

The genetic basis of eosinophilic esophagitis

artículo científico

The genetics of asthma and allergic disorders.

artículo científico publicado en 2011

The impact of genomics on pediatric research and medicine

artículo científico publicado en 2012

The impact of quality assurance assessment on diffusion tensor imaging outcomes in a large-scale population-based cohort

artículo científico publicado en 2015

The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism

artículo científico publicado en 2014

The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis

artículo científico publicado en 2012

The landscape of recombination in African Americans

artículo científico publicado en 2011

The missense variation landscape of FTO, MC4R, and TMEM18 in obese children of African Ancestry.

artículo científico publicado en 2013

The novel atherosclerosis locus at 10q11 regulates plasma CXCL12 levels

artículo científico publicado en 2011

The polygenic architecture of left ventricular mass mirrors the clinical epidemiology

scientific article published on 05 May 2020

The power of genetic diversity in genome-wide association studies of lipids

The prevalence of 16p12.1 microdeletion in patients with left-sided cardiac lesions.

artículo científico publicado en 2013

The psychosis spectrum in a young U.S. community sample: findings from the Philadelphia Neurodevelopmental Cohort

artículo científico publicado en 2014

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease

artículo científico publicado en 2015

The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature

artículo científico publicado en 2010

The role of leptin, melanocortin, and neurotrophin system genes on body weight in anorexia nervosa and bulimia nervosa

artículo científico publicado en 2014

The role of obesity-associated loci identified in genome-wide association studies in the determination of pediatric BMI

artículo científico publicado en 2009

The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis

artículo científico publicado en 2014

Thymic stromal lymphopoietin-elicited basophil responses promote eosinophilic esophagitis.

artículo científico publicado en 2013

Thymic stromal lymphopoietin-mediated extramedullary hematopoiesis promotes allergic inflammation.

scientific article published on December 2013

Transcriptome profiling of human ulcerative colitis mucosa reveals altered expression of pathways enriched in genetic susceptibility loci

artículo científico publicado en 2014

Translational studies of lipoprotein-associated phospholipase A₂ in inflammation and atherosclerosis

artículo científico publicado en 2012

Two variants of the C-reactive protein gene are associated with risk of pre-eclampsia in an American Indian population

artículo científico publicado en 2013

Two-stage extreme phenotype sequencing design for discovering and testing common and rare genetic variants: efficiency and power

artículo científico publicado en 2012

Type I IFN response associated with mTOR activation in the TAFRO subtype of idiopathic multicentric Castleman disease

artículo científico publicado en 2020

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis

scholarly article by Emanuele Barca published in October 2018

Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches

artículo científico publicado en 2016

Unfolding of hidden white blood cell count phenotypes for gene discovery using latent class mixed modeling

article

Unraveling the complex genetic underpinnings of asthma and allergic disorders

artículo científico publicado en 2010

Unsupervised Modeling and Genome-Wide Association Identify Novel Features of Allergic March Trajectories

artículo científico publicado en 2020

Using VAAST to Identify an X-linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency.

artículo científico publicado en 2011

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency

artículo científico publicado en 2011

Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome.

artículo científico publicado en 2012

Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients

artículo científico publicado en 2014

Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence

scientific article published on 24 February 2014

Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight

artículo científico publicado en 2010

Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility

artículo científico publicado en 2016

Variants in the Kisspeptin-GnRH Pathway Modulate the Hormonal Profile and Reproductive Outcomes

artículo científico publicado en 2020

Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 are associated with gestational duration

article

Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration

artículo científico publicado en 2019

Variants of DENND1B associated with asthma in children

artículo científico publicado en 2009

Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction

artículo científico publicado en 2016

Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder

artículo científico publicado en 2016

Whole Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma.

artículo científico publicado en 2018

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

artículo científico publicado en 2013

Whole-genome sequencing in an autism multiplex family

artículo científico publicado en 2013

Within-individual variability in neurocognitive performance: age- and sex-related differences in children and youths from ages 8 to 21

artículo científico publicado en 2014

deCODE genetics, Inc

artículo científico publicado en 2003

tRNA-DL: A Deep Learning Approach to Improve tRNAscan-SE Prediction Results

artículo científico publicado en 2018

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