Filtros de búsqueda

Lista de obras de

"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.

artículo científico publicado en 2012

A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration

artículo científico publicado en 2011

A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome

A Mixed-Effects Model for Powerful Association Tests in Integrative Functional Genomics.

artículo científico publicado en 2018

A case for expanding carrier testing to include actionable X-linked disorders

artículo científico publicado en 2018

A common VLDLR polymorphism interacts with APOE genotype in the prediction of carotid artery disease risk

artículo científico publicado en 2008

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

artículo científico publicado en 2021

A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair

artículo científico publicado en 2015

A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome

artículo científico publicado en 2012

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

artículo científico publicado en 2009

A multivariate genome-wide association analysis of 10 LDL subfractions, and their response to statin treatment, in 1868 Caucasians

artículo científico publicado en 2015

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex

artículo científico publicado en 2013

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

scientific article published on 16 February 2017

A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5.

artículo científico publicado en 2018

A reference panel of 64,976 haplotypes for genotype imputation

artículo científico publicado en 2016

A statin-dependent QTL for GATM expression is associated with statin-induced myopathy

artículo científico publicado en 2013

A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment

artículo científico publicado en 2018

A variational Bayes discrete mixture test for rare variant association

artículo científico publicado en 2014

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

A2ML1 and otitis media: novel variants, differential expression, and relevant pathways

scientific article published on 21 May 2019

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

scientific journal article

Abstract 2190: Fine-mapping of common genetic variants associated with colorectal tumor risk identified potential functional variants

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

artículo científico publicado en 2015

Actionable, pathogenic incidental findings in 1,000 participants' exomes

artículo científico publicado en 2013

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.

artículo científico publicado en 2017

Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans

artículo científico publicado en 2003

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

artículo científico publicado en 2014

Allele frequency matching between SNPs reveals an excess of linkage disequilibrium in genic regions of the human genome

artículo científico publicado en 2006

Allelic spectrum of the natural variation in CRP.

artículo científico publicado en 2006

Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).

artículo científico publicado en 2013

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

artículo científico publicado en 2020

An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.

artículo científico publicado en 2017

An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.

artículo científico publicado en 2016

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

artículo científico publicado en 2018

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

artículo científico publicado en 2012

Analysis of exome sequencing data sets reveals structural variation in the coding region of ABO in individuals of African ancestry

artículo científico publicado en 2016

Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms.

artículo científico publicado en 2018

Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study

artículo científico publicado en 2016

Association of exome sequences with plasma C-reactive protein levels in >9000 participants

artículo científico publicado en 2014

Association of polymorphisms in the CRP gene with circulating C-reactive protein levels and cardiovascular events

artículo científico publicado en 2006

Asthma and its relationship to mitochondrial copy number: Results from the Asthma Translational Genomics Collaborative (ATGC) of the Trans-Omics for Precision Medicine (TOPMed) program

artículo científico publicado en 2020

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.

artículo científico publicado en 2016

Automating resequencing-based detection of insertion-deletion polymorphisms

artículo científico publicado en 2006

Automating sequence-based detection and genotyping of SNPs from diploid samples

artículo científico publicado en 2006

Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation

artículo científico publicado en 2018

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

artículo científico publicado en 2015

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

artículo científico publicado en 2016

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome

artículo científico publicado en 2018

Biological, clinical and population relevance of 95 loci for blood lipids

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

Calling Star Alleles With Stargazer in 28 Pharmacogenes With Whole Genome Sequences

scientific article published on 26 July 2019

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

artículo científico publicado en 2014

Characteristics of COVID-19 in Homeless Shelters : A Community-Based Surveillance Study

scientific article published on 15 September 2020

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.

artículo científico publicado en 2017

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

artículo científico publicado en 2021

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

artículo científico publicado en 2016

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

article

Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study

scientific article published on 07 August 2019

Coagulation factor VIII: Relationship to cardiovascular disease risk and whole genome sequence and epigenome-wide analysis in African Americans

scientific article published on 27 January 2020

Combined influence of LDLR and HMGCR sequence variation on lipid-lowering response to simvastatin

artículo científico publicado en 2010

Comment on 'Discrepancies in dbSNP confirmations rates and allele frequency distributions from varying genotyping error rates and patterns'.

artículo científico publicado en 2004

Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project

artículo científico publicado en 2013

Common coding variants of the HNF1A gene are associated with multiple cardiovascular risk phenotypes in community-based samples of younger and older European-American adults: the Coronary Artery Risk Development in Young Adults Study and The Cardiov

artículo científico publicado en 2009

Common genetic variation in the prothrombin gene, hormone therapy, and incident nonfatal myocardial infarction in postmenopausal women

scientific article published on 08 February 2006

Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.

artículo científico publicado en 2018

Comparable specimen collection from both ends of at-home mid-turbinate swabs

scientific article published on 08 December 2020

Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes

artículo científico publicado en 2014

Completing the map of human genetic variation

artículo científico publicado en 2007

Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes

artículo científico publicado en 2004

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

artículo científico publicado en 2008

Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa

artículo científico publicado en 2018

Contributions of 18 additional DNA sequence variations in the gene encoding apolipoprotein E to explaining variation in quantitative measures of lipid metabolism

artículo científico publicado en 2002

Copy number variation detection and genotyping from exome sequence data

artículo científico publicado en 2012

Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

scientific article published on 01 July 2019

Correction: A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration

scientific article published in PLoS ONE

Cryptic transmission of SARS-CoV-2 in Washington State

artículo científico publicado en 2020

Cryptic transmission of SARS-CoV-2 in Washington state

scientific article published on 10 September 2020

D-Dimer in African Americans: Whole Genome Sequence Analysis and Relationship to Cardiovascular Disease Risk in the Jackson Heart Study

artículo científico publicado en 2017

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients

artículo científico publicado en 2018

DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype

artículo científico publicado en 2016

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

scientific article published on 14 November 2019

De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population

scientific article published on 21 January 2020

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

artículo científico publicado en 2015

De novo rates and selection of large copy number variation

artículo científico publicado en 2010

Definition and clinical importance of haplotypes

artículo científico publicado en 2005

Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing

artículo científico publicado en 2016

Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome

artículo científico publicado en 2016

Differential effects of ramipril on ambulatory blood pressure in African Americans and Caucasians

artículo científico publicado en 2007

Direct detection of null alleles in SNP genotyping data

artículo científico publicado en 2006

Discovery of common and rare genetic risk variants for colorectal cancer

artículo científico publicado en 2018

Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program

artículo científico publicado en 2020

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

scientific article published on 26 May 2020

ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes

artículo científico publicado en 2017

Early Detection of Covid-19 through a Citywide Pandemic Surveillance Platform

scientific article published on 01 May 2020

Effect of Sickle Cell Trait and <i>APOL1</i> Genotype on the Association of Soluble uPAR with Kidney Function Measures in Blacks

scientific article published on 02 December 2020

Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose

artículo científico publicado en 2005

Effects of weather-related social distancing on city-scale transmission of respiratory viruses

scientific article (preprint)

Efficient selection of tagging single-nucleotide polymorphisms in multiple populations.

artículo científico publicado en 2006

Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1

Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data

artículo científico publicado en 2017

Erratum: Corrigendum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

scientific article published in Nature

Erratum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

scholarly article by Brian J O'Roak et al published April 2012 in Nature Genetics

Estimating coverage and power for genetic association studies using near-complete variation data

artículo científico publicado en 2008

Evidence for Limited Early Spread of COVID-19 Within the United States, January-February 2020

artículo científico publicado en 2020

Evidence for involvement of GNB1L in autism

artículo científico publicado en 2011

Evidence for substantial fine-scale variation in recombination rates across the human genome

artículo científico publicado en 2004

Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits

artículo científico publicado en 2016

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

artículo científico publicado en 2010

Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms

artículo científico publicado en 2011

Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis

artículo científico publicado en 2014

Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers

artículo científico publicado en 2011

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia

artículo científico publicado en 2013

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

artículo científico publicado en 2014

Exome sequencing identifies the cause of a mendelian disorder

artículo científico publicado en 2010

Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.

artículo científico publicado en 2015

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

artículo científico publicado en 2011

Exome sequencing in suspected monogenic dyslipidemias

artículo científico publicado en 2015

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis

artículo científico publicado en 2012

Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data

scientific article published on 21 July 2019

Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families

artículo científico publicado en 2013

Exome-wide rare variant analysis in familial essential tremor

scientific article published on 24 November 2020

Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

artículo científico publicado en 2015

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

artículo científico publicado en 2017

Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

artículo científico publicado en 2015

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders

scientific article published on 26 February 2019

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice

artículo científico publicado en 2018

FUT2 Variants Confer Susceptibility to Familial Otitis Media

Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants

artículo científico publicado en 2016

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

artículo científico publicado en 2018

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

scientific article published on 19 May 2020

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

artículo científico publicado en 2018

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

artículo científico publicado en 2016

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

article

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

artículo científico publicado en 2018

Genetic ancestry in lung-function predictions

artículo científico publicado en 2010

Genetic ancestry, population sub-structure, and cardiovascular disease-related traits among African-American participants in the CARDIA Study

artículo científico publicado en 2007

Genetic and nongenetic sources of variation in phospholipid transfer protein activity

artículo científico publicado en 2009

Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication

artículo científico publicado en 2008

Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

article

Genetic variation is associated with C-reactive protein levels in the Third National Health and Nutrition Examination Survey

artículo científico publicado en 2006

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.

artículo científico publicado en 2015

Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing

artículo científico publicado en 2017

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

artículo científico publicado en 2018

Genome-wide association of lipid-lowering response to statins in combined study populations

artículo científico publicado en 2010

Genome-wide association study of plasma lipoprotein(a) levels identifies multiple genes on chromosome 6q

artículo científico publicado en 2009

Genomic characterization of the RH locus detects complex and novel structural variation in multi-ethnic cohorts

artículo científico publicado en 2018

Genomic regions exhibiting positive selection identified from dense genotype data

artículo científico publicado en 2005

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

article

Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project

artículo científico publicado en 2016

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

artículo científico publicado en 2012

Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations

artículo científico publicado en 2004

Heritable Thoracic Aortic Disease Genes in Sporadic Aortic Dissection

artículo científico publicado en 2017

High-throughput genotyping of intermediate-size structural variation

artículo científico publicado en 2006

IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome

scientific journal article

Identification of ASAH1 as a susceptibility gene for familial keloids

artículo científico publicado en 2017

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance

artículo científico publicado en 2018

Identification of Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis by Whole-Exome Sequencing

artículo científico publicado en 2015

Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue

artículo científico publicado en 2011

Identifying novel susceptibility genes for colorectal cancer risk from a transcriptome-wide association study of 125,478 subjects

artículo científico publicado en 2020

Imputation of coding variants in African Americans: better performance using data from the exome sequencing project

artículo científico publicado en 2013

Inactivating mutations in NPC1L1 and protection from coronary heart disease

artículo científico publicado en 2014

Influence of common and rare genetic variation on warfarin dose among African-Americans and European-Americans using the exome array

artículo científico publicado en 2017

Insights into genetics, human biology and disease gleaned from family based genomic studies

artículo científico publicado en 2019

Insights into genetics, human biology and disease gleaned from family based genomic studies

article

Integrating host genomics with surveillance for invasive bacterial diseases

artículo científico publicado en 2008

Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia

artículo científico publicado en 2013

LB21. The Seattle Flu Study: A Community-Based Study of Influenza

artículo científico publicado en 2019

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

artículo científico publicado en 2016

LPA and PLG sequence variation and kringle IV-2 copy number in two populations

artículo científico publicado en 2008

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.

artículo científico publicado en 2018

Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases

artículo científico publicado en 2016

Linkage and association of phospholipid transfer protein activity to LASS4

artículo científico publicado en 2011

Linkage disequilibrium in wild mice

artículo científico publicado en 2007

Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts

artículo científico publicado en 2018

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease

artículo científico publicado en 2016

Loss-of-function mutations in APOC3, triglycerides, and coronary disease

artículo científico publicado en 2014

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

scientific article published on 21 November 2018

MAT2A mutations predispose individuals to thoracic aortic aneurysms

artículo científico publicado en 2014

MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.

artículo científico publicado en 2017

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

artículo científico publicado en 2020

Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies

artículo científico publicado en 2015

Mapping and sequencing of structural variation from eight human genomes

artículo científico publicado en 2008

Mapping complex disease loci in whole-genome association studies

artículo científico publicado en 2004

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 exon capture and library-free resequencing across 16 genomes

artículo científico publicado en 2009

Massively parallel sequencing and rare disease

artículo científico publicado en 2010

Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.

artículo científico publicado en 2015

Mendelian Gene Discovery: Fast and Furious with No End in Sight

scientific article published on 01 September 2019

Meta-analysis of genome-wide association studies of HDL cholesterol response to statins

artículo científico publicado en 2016

Methods for genomic partitioning

artículo científico publicado en 2009

Mitochondrial genetic variants and Alzheimer disease: a case-control study of the T4336C and G5460A variants

artículo científico publicado en 2002

Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.

artículo científico publicado en 2016

Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.

artículo científico publicado en 2017

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

artículo científico publicado en 2013

Multi-omic studies on missense PLG variants in families with otitis media

scientific article published on 14 September 2020

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

artículo científico publicado en 2012

Multiplexed Functional Assessment of Genetic Variants in CARD11

artículo científico publicado en 2020

Mutation of ATF6 causes autosomal recessive achromatopsia

artículo científico publicado en 2015

Mutational and selective effects on copy-number variants in the human genome

artículo científico publicado en 2007

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

artículo científico

Mutations in ECEL1 cause distal arthrogryposis type 5D

artículo científico publicado en 2012

Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans

artículo científico publicado en 2019

Mutations in GET4 disrupt the transmembrane domain recognition complex pathway

scientific article published on 12 May 2020

Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling

artículo científico publicado en 2020

Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.

scientific article published on 10 April 2017

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89

artículo científico publicado en 2013

Mutations in KCTD1 cause scalp-ear-nipple syndrome

artículo científico publicado en 2013

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis ⬇️

artículo científico publicado en 2020

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

artículo científico publicado en 2014

Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype

artículo científico publicado en 2014

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

artículo científico publicado en 2013

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

artículo científico publicado en 2014

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate

Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.

artículo científico publicado en 2018

Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation

artículo científico publicado en 2019

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

artículo científico publicado en 2020

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability

article

Novel common and rare genetic determinants of paraoxonase activity: FTO, SERPINA12, and ITGAL.

artículo científico publicado en 2012

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

artículo científico publicado en 2012

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis

artículo científico publicado en 2015

Novel paraoxonase (PON1) nonsense and missense mutations predicted by functional genomic assay of PON1 status ⬇️

artículo científico publicado el 1 de mayo de 2003

Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1

artículo científico publicado en 2014

Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies

artículo científico publicado en 2012

Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants

scientific article published on 24 July 2020

PADRE: Pedigree-Aware Distant-Relationship Estimation

artículo científico publicado en 2016

PRIMUS: improving pedigree reconstruction using mitochondrial and Y haplotypes

artículo científico publicado en 2015

PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent.

artículo científico publicado en 2014

Paraoxonase activity, but not haplotype utilizing the linkage disequilibrium structure, predicts vascular disease

artículo científico publicado en 2003

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results

artículo científico publicado en 2014

Patient genotypes impact survival after surgery for isolated congenital heart disease

artículo científico publicado en 2014

Pattern of sequence variation across 213 environmental response genes

artículo científico publicado en 2004

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

artículo científico publicado en 2016

Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins

artículo científico publicado en 2014

Phenotypic predictors of response to simvastatin therapy among African-Americans and Caucasians: the Cholesterol and Pharmacogenetics (CAP) Study

artículo científico publicado en 2006

Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals

artículo científico publicado en 2016

Polymorphisms in the ICAM1 gene predict circulating soluble intercellular adhesion molecule-1(sICAM-1).

artículo científico publicado en 2011

Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein

artículo científico publicado en 2008

Polymorphisms of the IL1-receptor antagonist gene (IL1RN) are associated with multiple markers of systemic inflammation

artículo científico publicado en 2008

Polymorphisms within the C-Reactive Protein (CRP) Promoter Region Are Associated with Plasma CRP Levels

Polymorphisms within the C-reactive protein (CRP) promoter region are associated with plasma CRP levels

artículo científico publicado en 2005

Population analysis of large copy number variants and hotspots of human genetic disease

artículo científico publicado en 2009

Population history and natural selection shape patterns of genetic variation in 132 genes

artículo científico publicado en 2004

Positioning a medical school for modern biomedical research: the department of genome sciences at the University of Washington School of Medicine

artículo científico publicado en 2006

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory

artículo científico publicado en 2018

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis and treatment suggestions

artículo científico publicado en 2020

Preliminary support for a “dry swab, extraction free” protocol for SARS-CoV-2 testing via RT-qPCR

artículo científico publicado en 2020

Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.

artículo científico publicado en 2017

Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network ⬇️

artículo científico publicado en 2015

Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset

artículo científico publicado en 2013

RNF213 rare variants in an ethnically diverse population with Moyamoya disease

artículo científico publicado en 2014

Race-Specific Influence of CYP4F2 on Dose and Risk of Hemorrhage Among Warfarin Users

artículo científico publicado en 2016

Rare A2ML1 variants confer susceptibility to otitis media

artículo científico publicado en 2015

Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project

artículo científico publicado en 2015

Rare coding variation in paraoxonase-1 is associated with ischemic stroke in the NHLBI Exome Sequencing Project

artículo científico publicado en 2014

Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease

artículo científico publicado en 2020

Rare loss of function variants in candidate genes and risk of colorectal cancer

article

Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project

artículo científico publicado en 2016

Rare variation facilitates inferences of fine-scale population structure in humans

artículo científico publicado en 2014

Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data

artículo científico publicado en 2013

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections

artículo científico publicado en 2013

Redefining the Etiologic Landscape of Cerebellar Malformations

artículo científico publicado en 2019

Remote Household Observation for Non-influenza Respiratory Viral Illness

scientific article published on 17 November 2020

Response to Hall et al

artículo científico publicado en 2020

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

artículo científico publicado en 2012

SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections

scientific article published on 26 February 2019

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. ⬇️

artículo científico publicado en 2016

Sequence diversity, natural selection and linkage disequilibrium in the human T cell receptor alpha/delta locus

artículo científico publicado en 2006

Sequence polymorphism at the human apolipoprotein AII gene ( APOA2): unexpected deficit of variation in an African-American sample

artículo científico publicado en 2002

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

artículo científico publicado en 2017

Sequence variation in the human T-cell receptor loci

artículo científico publicado en 2002

Sequence-based linkage analysis

artículo científico publicado en 2004

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

artículo científico publicado en 2019

Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder

artículo científico publicado en 2017

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

artículo científico publicado en 2010

Soluble P-selectin, SELP polymorphisms, and atherosclerotic risk in European-American and African-African young adults: the Coronary Artery Risk Development in Young Adults (CARDIA) Study

artículo científico publicado en 2008

Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.

artículo científico publicado en 2016

Somatic mutations in cerebral cortical malformations

artículo científico publicado en 2014

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

artículo científico publicado en 2011

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

artículo científico publicado en 2012

Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections

artículo científico publicado en 2014

Survival Beyond the Perinatal Period Expands the Phenotypes Caused by Mutations in GLE1

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

artículo científico publicado en 2017

Systematic assessment of copy number variant detection via genome-wide SNP genotyping

artículo científico publicado en 2008

TCIRG1-associated congenital neutropenia

artículo científico publicado en 2014

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

artículo científico publicado en 2012

TagSNP analyses of the PON gene cluster: effects on PON1 activity, LDL oxidative susceptibility, and vascular disease

artículo científico publicado en 2006

TagSNP evaluation for the association of 42 inflammation loci and vascular disease: evidence of IL6, FGB, ALOX5, NFKBIA, and IL4R loci effects

artículo científico publicado en 2006

Targeted capture and massively parallel sequencing of 12 human exomes

artículo científico publicado en 2009

Targeted enrichment of specific regions in the human genome by array hybridization

artículo científico publicado en 2010

Targeted interrogation of copy number variation using SCIMMkit

artículo científico publicado en 2009

The All of Us Research Program: Data quality, utility, and diversity

artículo científico publicado en 2022

The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.

artículo científico publicado en 2012

The Seattle Flu Study: a multi-arm community-based prospective study protocol for assessing influenza prevalence, transmission, and genomic epidemiology

artículo científico publicado en 2020

The Seattle Flu Study: a multiarm community-based prospective study protocol for assessing influenza prevalence, transmission and genomic epidemiology

artículo científico publicado en 2020

The contribution of de novo coding mutations to autism spectrum disorder

artículo científico publicado en 2014

The effects of scale: variation in the APOA1/C3/A4/A5 gene cluster

artículo científico publicado en 2004

The environmental genome project: reference polymorphisms for drug metabolism genes and genome-wide association studies

artículo científico publicado en 2008

The patterns of natural variation in human genes

artículo científico publicado en 2005

The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy

artículo científico publicado en 2019

Toll-like receptor 1 polymorphisms affect innate immune responses and outcomes in sepsis

artículo científico publicado en 2008

Tracing sub-structure in the European American population with PCA-informative markers

artículo científico publicado en 2008

Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium

artículo científico publicado en 2020

Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene expression in the airway epithelium

artículo científico publicado en 2020

USF1 gene variants, cardiovascular risk, and mortality in European Americans: analysis of two US cohort studies

artículo científico publicado en 2007

Utilizing graph theory to select the largest set of unrelated individuals for genetic analysis

artículo científico publicado en 2012

Variant Interpretation for Dilated Cardiomyopathy (DCM): Refinement of the ACMG/ClinGen Guidelines for the DCM Precision Medicine Study

scientific article published on 11 March 2020

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly

scientific article published on 13 April 2019

Variation in LPA is associated with Lp(a) levels in three populations from the Third National Health and Nutrition Examination Survey

artículo científico publicado en 2011

Variation in the 3-hydroxyl-3-methylglutaryl coenzyme a reductase gene is associated with racial differences in low-density lipoprotein cholesterol response to simvastatin treatment

artículo científico publicado en 2008

Viral genomes reveal patterns of the SARS-CoV-2 outbreak in Washington State

artículo científico publicado en 2020

Whole Exome Sequencing in Atrial Fibrillation

artículo científico publicado en 2016

Whole Genome Sequencing Identifies Novel Functional Loci Associated with Lung Function in Puerto Rican Youth

scientific article published on 27 May 2020

Whole exome sequencing analysis in severe chronic obstructive pulmonary disease

scientific article published on 01 November 2018

Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium

artículo científico publicado en 2021

Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants

scientific article published on 14 October 2020

Whole genome sequence association with E-selectin levels reveals Loss-of-function variant in African Americans

artículo científico publicado en 2019

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia

artículo científico publicado en 2012

Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans.

artículo científico publicado en 2014

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

artículo científico publicado en 2014

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia

artículo científico publicado en 2012

Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program

artículo científico publicado en 2021

denovo-db: a compendium of human de novo variants.

artículo científico publicado en 2016

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda