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Lista de obras de Stephen W. Scherer

15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes

artículo científico publicado en 2015

1q21.1 Microduplication expression in adults

artículo científico publicado en 2012

2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.

artículo científico publicado en 2011

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

artículo científico publicado en 2001

A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families

artículo científico publicado en 2014

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

artículo científico publicado en 2018

A Third Linear Association Between Olduvai (DUF1220) Copy Number and Severity of the Classic Symptoms of Inherited Autism

scientific article published on 15 February 2019

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

artículo científico publicado en 2012

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

A copy number variation map of the human genome

artículo científico publicado en 2015

A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome.

artículo científico publicado en 2017

A discovery resource of rare copy number variations in individuals with autism spectrum disorder

artículo científico publicado en 2012

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3

artículo científico publicado en 2011

A framework for an evidence-based gene list relevant to autism spectrum disorder

artículo científico publicado en 2020

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

artículo científico publicado en 2001

A genome-wide association study of anorexia nervosa

artículo científico publicado en 2014

A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus.

artículo científico publicado en 2013

A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees.

artículo científico publicado en 2018

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

scientific journal article

A genotype resource for postmortem brain samples from the Autism Tissue Program

artículo científico publicado en 2011

A high-resolution copy-number variation resource for clinical and population genetics

artículo científico publicado en 2014

A large data resource of genomic copy number variation across neurodevelopmental disorders

artículo científico publicado en 2019

A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder

artículo científico publicado en 2017

A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes

artículo científico publicado en 2011

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

artículo científico publicado en 2011

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

artículo científico publicado en 2004

A role for common fragile site induction in amplification of human oncogenes

artículo científico publicado en 2002

A scan statistic to extract causal gene clusters from case-control genome-wide rare CNV data

artículo científico publicado en 2011

A third human carnitine/organic cation transporter (OCTN3) as a candidate for the 5q31 Crohn's disease locus (IBD5)

scientific journal article

A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints

artículo científico publicado en 2008

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.

artículo científico publicado en 2017

Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations

artículo científico publicado en 2008

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

artículo científico publicado en 2006

Absent CNKSR2 causes seizures and intellectual, attention, and language deficits

artículo científico publicado en 2014

Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015

artículo científico publicado en 2016

Accurate and reliable high-throughput detection of copy number variation in the human genome

artículo científico publicado en 2006

Adult expression of a 3q13.31 microdeletion

artículo científico publicado en 2014

Adult neuropsychiatric expression and familial segregation of 2q13 duplications

artículo científico publicado en 2014

Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype

artículo científico publicado en 2012

Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling.

artículo científico publicado en 2018

Altered expression and deletion of RMO1 in osteosarcoma

artículo científico publicado en 2005

An Epigenetically Distinct Subset of Children With Autism Spectrum Disorder Resulting From Differences in Blood Cell Composition

artículo científico publicado en 2021

An nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome)

Analysis of five deep-sequenced trio-genomes of the Peninsular Malaysia Orang Asli and North Borneo populations

scientific article published on 12 November 2019

Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants

artículo científico publicado en 2022

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Analysis of the monomeric alphoid sequences in the pericentromeric region of human chromosome 7

scientific article published on 01 January 1998

Ankrd11 is a chromatin regulator involved in autism that is essential for neural development

artículo científico

Assignment of growth factor receptor-bound protein 10 (GRB10) to human chromosome 7p11.2-p12

artículo científico publicado en 1997

Assignment of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24

artículo científico publicado en 1999

Association and mutation analyses of 16p11.2 autism candidate genes

artículo científico publicado en 2009

Association and transmission analysis of the FMR1 IVS10 + 14C-T variant in autism

artículo científico publicado en 2004

Association between distress and knowledge among parents of autistic children

artículo científico publicado en 2019

Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta-analysis

artículo científico publicado en 2017

Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage

artículo científico publicado en 2017

Autism and related neurodevelopmental disorders: the many genes involved.

artículo científico publicado en 2014

Autism spectrum disorder in the genetics clinic: a review.

artículo científico publicado en 2013

Autism spectrum disorder: advances in evidence-based practice

artículo científico publicado en 2014

Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.

artículo científico publicado en 2017

Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood

Biological overlap of attention-deficit/hyperactivity disorder and autism spectrum disorder: evidence from copy number variants

artículo científico publicado en 2014

Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).

artículo científico publicado en 2015

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

artículo científico publicado en 2014

Building trust in 21st century genomics

scientific article published on 07 August 2013

CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene

artículo científico

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

artículo científico publicado en 2017

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

artículo científico publicado en 2014

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

artículo científico publicado en 2016

Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray

artículo científico publicado en 2017

Challenges and standards in integrating surveys of structural variation

artículo científico publicado en 2007

Characterization of Large Copy Number Variation in Mexican Type 2 Diabetes subjects

artículo científico publicado en 2017

Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q.

artículo científico publicado en 2009

Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay

artículo científico publicado en 2005

Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region

artículo científico publicado en 2007

Characterization of terminal deletions at 7q32 and 22q13.3 healed by De novo telomere addition

artículo científico publicado en 2000

Characterization of the Gene Encoding Human Sarcolipin (SLN), a Proteolipid Associated with SERCA1: Absence of Structural Mutations in Five Patients with Brody Disease ⬇️

artículo científico publicado el 1 de noviembre de 1997

Characterization of the differentially methylated region of the Impact gene that exhibits Glires-specific imprinting

artículo científico publicado en 2008

Characterization of the segmental duplication LCR7-20 in the human genome

artículo científico publicado en 2004

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

artículo científico publicado en 2018

Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing.

artículo científico publicado en 2018

Chromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: a possible contributor to the holoprosencephaly 3 phenotype

artículo científico publicado en 1996

Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome

artículo científico publicado en 2002

Chromosome 7q31 allelic imbalance and somatic mutations of RAY1/ST7 gene in colorectal cancer

article

Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris.

artículo científico publicado en 2013

Clinically relevant copy number variations detected in cerebral palsy

artículo científico publicado en 2015

Clonal selection drives genetic divergence of metastatic medulloblastoma

artículo científico publicado en 2012

Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein family

artículo científico publicado en 2003

Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2.

artículo científico publicado en 2001

Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human

artículo científico publicado en 1999

Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia.

artículo científico publicado en 2013

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers

artículo científico publicado en 2015

Communicating complex genomic information: A counselling approach derived from research experience with Autism Spectrum Disorder

artículo científico

Comparative analysis of human chromosome 7q21 and mouse proximal chromosome 6 reveals a placental-specific imprinted gene, TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencing

artículo científico publicado en 2008

Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5

artículo científico publicado en 2001

Comparative analysis of the paired immunoglobulin-like receptor (PILR) locus in six mammalian genomes: duplication, conversion, and the birth of new genes

artículo científico publicado en 2006

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

article

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

artículo científico publicado en 2015

Complex Copy Number Variation of AMY1 does not Associate with Obesity in two East Asian Cohorts.

artículo científico publicado en 2016

Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy.

artículo científico publicado en 2016

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

artículo científico publicado en 2015

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

artículo científico publicado en 2011

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

artículo científico publicado en 1997

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

artículo científico publicado en 2010

Contemplating effects of genomic structural variation

scientific article published on September 2008

Contribution of SHANK3 mutations to autism spectrum disorder

artículo científico publicado en 2007

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

artículo científico publicado en 2016

Contributors

article

Control of Long-Term Synaptic Potentiation and Learning by Alternative Splicing of the NMDA Receptor Subunit GluN1

scientific article published on 01 December 2019

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

artículo científico publicado en 2014

Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders

artículo científico publicado en 2018

Copy Number Variation in Tourette Syndrome

artículo científico publicado en 2017

Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets

artículo científico publicado en 2014

Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes

artículo científico publicado en 2014

Copy number variation analysis and sequencing of the X-linked mental retardation gene TSPAN7/TM4SF2 in patients with autism spectrum disorder

artículo científico publicado en 2009

Copy number variation in Han Chinese individuals with autism spectrum disorder

artículo científico publicado en 2014

Copy number variation in fetal alcohol spectrum disorder

artículo científico publicado en 2018

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study

artículo científico publicado en 2014

Copy number variation: new insights in genome diversity

artículo científico publicado en 2006

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome

artículo científico publicado en 2008

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome.

artículo científico publicado en 2009

Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease

artículo científico publicado en 2010

Copy-number variation in control population cohorts

artículo científico publicado en 2007

Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder

artículo científico publicado en 2016

Copy-number variations associated with neuropsychiatric conditions

artículo científico publicado en 2008

Correction: Genome-Wide Copy Number Analysis Uncovers a New HSCR Gene: NRG3.

artículo científico publicado en 2012

Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

artículo científico publicado en 2020

Correction: Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease

Cover Image, Volume 173A, Number 2, February 2017

Cytogenetic prognostication within medulloblastoma subgroups

artículo científico publicado en 2014

DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants

artículo científico publicado en 2016

DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes

artículo científico publicado en 2022

De Novo Genome and Transcriptome Assembly of the Canadian Beaver (Castor canadensis)

artículo científico publicado en 2017

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

artículo científico publicado en 2017

De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: a case report and a brief literature review.

artículo científico publicado en 2015

De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients

artículo científico publicado en 2016

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.

artículo científico publicado en 2017

De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder

artículo científico publicado en 2004

Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation

artículo científico publicado en 2013

Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature

artículo científico publicado en 2014

Delineation of multiple deleted regions in 7q in myeloid disorders

scientific article published on 01 August 1999

Detection and characterization of copy number variation in autism spectrum disorder

artículo científico publicado en 2012

Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency

artículo científico publicado en 1998

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

artículo científico publicado en 2013

Detection of large-scale variation in the human genome

artículo científico publicado en 2004

Development of a high-resolution Y-chromosome microarray for improved male infertility diagnosis.

artículo científico publicado en 2014

Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome.

artículo científico publicado en 2006

Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing

artículo científico publicado en 2010

Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies

artículo científico publicado en 2005

Discrimination of SNPs in GC-rich regions using a modified hydrolysis probe chemistry protocol

artículo científico publicado en 2014

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

artículo científico publicado en 2010

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

artículo científico publicado en 2002

Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome

scientific journal article

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

artículo científico publicado en 2013

Dominant mutation causes intellectual disability with remitting epilepsy

artículo científico publicado en 2019

Duplication and relocation of the functional DPY19L2 gene within low copy repeats

artículo científico publicado en 2006

Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay

artículo científico publicado en 2008

Dynamic variation in allele-specific gene expression of Paraoxonase-1 in murine and human tissues

artículo científico publicado en 2008

Dysregulation of cyclin dependent kinase 6 expression in splenic marginal zone lymphoma through chromosome 7q translocations

artículo científico publicado en 1999

EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines

article

Early BrdU-responsive genes constitute a novel class of senescence-associated genes in human cells.

artículo científico publicado en 2004

Early-onset Lafora body disease

artículo científico publicado en 2012

Endothelial nitric-oxide synthase antisense (NOS3AS) gene encodes an autophagy-related protein (APG9-like2) highly expressed in trophoblast

artículo científico publicado en 2005

Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements

artículo científico publicado en 2003

Epigenomic alterations define lethal CIMP-positive ependymomas of infancy

artículo científico publicado en 2014

Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.

artículo científico publicado en 2016

Erratum: Corrigendum: Colorectal carcinomas in mice lacking the catalytic subunit of PI(3)Kγ

scientific article published in Nature

Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions

article

Evaluating genetic counseling for individuals with schizophrenia in the molecular age

artículo científico publicado en 2012

Evolutionary implications of inversions that have caused intra-strand parity in DNA.

artículo científico publicado en 2007

Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome

artículo científico publicado en 2008

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

artículo científico publicado en 2013

Expanded repeat in canine epilepsy

artículo científico publicado en 2005

Expanding the neurodevelopmental phenotypes of individuals with de novo variants

artículo científico publicado en 2019

Expression analysis of six paralogous human hyaluronidase genes clustered on chromosomes 3p21 and 7q31

artículo científico publicado en 1999

Expression and mutation status of candidate kinases in multiple myeloma

scientific article published on 08 March 2007

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project

artículo científico publicado en 2014

Failure of a medulloblastoma-derived mutant of SUFU to suppress WNT signaling

artículo científico publicado en 2004

Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype

artículo científico publicado en 2017

Frequent appearance of novel protein-coding sequences by frameshift translation

artículo científico publicado en 2006

Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants

scientific article published on 16 July 2019

Functional and chromosomal clustering of genes responsive to 5-bromodeoxyuridine in human cells

artículo científico publicado en 2004

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

artículo científico publicado en 2010

Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia.

artículo científico publicado en 2001

GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome

artículo científico publicado en 2003

Gene and miRNA expression profiles in autism spectrum disorders

artículo científico publicado en 2010

Gene structure of the human MET proto-oncogene ⬇️

artículo científico publicado el 25 de septiembre de 1997

GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation

artículo científico publicado en 2022

Genescript: DNA sequence annotation pipeline

artículo científico publicado en 2003

Genetic analysis of patients with the Saethre-Chotzen phenotype.

artículo científico publicado en 2002

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

artículo científico publicado en 2012

Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications

article

Genetic architecture in autism spectrum disorder

artículo científico

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

artículo científico publicado en 2014

Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22

artículo científico publicado en 2003

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

artículo científico publicado en 2013

Genetic variation at the ACE gene is associated with persistent microalbuminuria and severe nephropathy in type 1 diabetes: the DCCT/EDIC Genetics Study

artículo científico publicado en 2005

Genome analysis

artículo científico publicado en 1995

Genome assembly comparison identifies structural variants in the human genome.

artículo científico publicado en 2006

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

artículo científico publicado en 2017

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

scholarly article

Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease.

artículo científico publicado en 2019

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 of copy number variation in recurrent depressive disorder.

artículo científico publicado en 2011

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 of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

artículo científico publicado en 2010

Genome-wide association study of emotional empathy in children

artículo científico publicado en 2020

Genome-wide characteristics of de novo mutations in autism

artículo científico publicado en 2016

Genome-wide copy number analysis uncovers a new HSCR gene: NRG3

artículo científico publicado en 2012

Genome-wide copy number variant data for inflammatory bowel disease in a caucasian population

artículo científico publicado en 2019

Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity

artículo científico publicado en 2018

Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays

artículo científico publicado en 2006

Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence

artículo científico publicado en 2003

Genome-wide detection of tandem DNA repeats that are expanded in autism

artículo científico publicado en 2020

Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries

artículo científico publicado en 2015

Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics

artículo científico publicado en 2012

Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots

artículo científico publicado en 2018

Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS)

scientific article published on 28 November 2005

Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome.

artículo científico publicado en 2016

Genomic medicine goes mainstream

artículo científico publicado en 2016

Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue.

artículo científico publicado en 1999

Genomic variation in a global village: report of the 10th annual Human Genome Variation Meeting 2008.

scientific article published on July 2009

Genomics and pediatric research

artículo científico publicado en 2003

Genomics is the medium for 21st century biology

scientific article published on 01 October 2012

Germ-line DNA copy number variation frequencies in a large North American population

artículo científico publicado en 2007

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes

artículo científico publicado en 2017

Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency

artículo científico publicado en 2014

Global variation in copy number in the human genome

artículo científico publicado en 2006

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in

scientific article published on 01 April 2019

HGV2009 meeting: bigger and better studies provide more answers and more questions

scientific article published on July 2010

HGV2012: leveraging next-generation technology and large datasets to advance disease research

artículo científico publicado en 2013

HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis

artículo científico publicado en 2015

HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.

artículo científico publicado en 2017

Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome

artículo científico publicado en 2019

Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot

article

Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome

artículo científico publicado en 1997

Heterogeneity in clinical sequencing tests marketed for autism spectrum disorders

scholarly article by Ny Hoang et al published 2018 in NPJ genomic medicine

Heterogeneity of the 7q36 breakpoints in the t(7;12) involving ETV6 in infant leukemia

artículo científico publicado en 2003

Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity

artículo científico publicado en 2012

Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature.

artículo científico publicado en 2005

Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency

artículo científico publicado en 2000

Hotspots for copy number variation in chimpanzees and humans

artículo científico publicado en 2006

Human GBF1 is a ubiquitously expressed gene of the sec7 domain family mapping to 10q24

artículo científico publicado en 1998

Human Genome Variation 2006: emerging views on structural variation and large-scale SNP analysis

artículo científico publicado en 2007

Human PON2 gene at 7q21.3: cloning, multiple mRNA forms, and missense polymorphisms in the coding sequence

artículo científico publicado en 1998

Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene

artículo científico publicado en 2011

Human chromosome 7 circa 2004: a model for structural and functional studies of the human genome

artículo científico publicado en 2004

Human chromosome 7: DNA sequence and biology

artículo científico publicado en 2003

Human secretin (SCT): gene structure, chromosome location, and distribution of mRNA

artículo científico publicado en 2000

Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse

artículo científico publicado en 2007

Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome

artículo científico publicado en 2017

IQCJ-SCHIP1, a novel fusion transcript encoding a calmodulin-binding IQ motif protein

artículo científico publicado en 2006

Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32

artículo científico publicado en 2002

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.

artículo científico publicado en 2009

Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy

artículo científico publicado en 2005

Identification of a 1300 kilobase deletion unit on chromosome 7q31.3 in invasive epithelial ovarian carcinomas

artículo científico publicado en 1997

Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product

artículo científico publicado en 2003

Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome

artículo científico publicado en 1999

Identification of candidate intergenic risk loci in autism spectrum disorder

artículo científico publicado en 2013

Identification of germline genomic copy number variation in familial pancreatic cancer

artículo científico publicado en 2012

Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families

artículo científico publicado en 2014

Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution

artículo científico publicado en 2007

Identifying concerted evolution and gene conversion in mammalian gene pairs lasting over 100 million years

artículo científico publicado en 2009

Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data

artículo científico publicado en 2010

Impact of DNA source on genetic variant detection from human whole-genome sequencing data

artículo científico publicado en 2019

Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia

artículo científico publicado en 2017

Implication of LRRC4C and DPP6 in neurodevelopmental disorders.

artículo científico publicado en 2016

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

artículo científico publicado en 2017

Improving imputation in disease-relevant regions: lessons from cystic fibrosis.

artículo científico publicado en 2018

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

artículo científico publicado en 2016

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

scientific journal article

Individualized medicine enabled by genomics in Saudi Arabia

artículo científico publicado en 2015

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

artículo científico publicado en 2008

Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology

artículo científico publicado en 2011

Integrated genomics identifies convergence of ankylosing spondylitis with global immune mediated disease pathways

artículo científico publicado en 2015

Interleukin-1α-converting enzyme (ICE) and related cell death genes ICErel-II and ICErel-III map to the same PAC clone at band 11q22.2-22.3

article

Intratumoral Genetic and Functional Heterogeneity in Pediatric Glioblastoma

artículo científico publicado en 2019

Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes

artículo científico publicado en 2005

Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy

artículo científico publicado en 2004

Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes

artículo científico publicado en 1998

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

artículo científico publicado en 2019

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L.

artículo científico publicado en 2016

Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.

artículo científico publicado en 1994

Localization of the human SP3 gene to chromosome 7p14-p15.2. The lack of expression in multiple sclerosis does not reflect abnormal gene organization.

artículo científico publicado en 2000

Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy

artículo científico publicado en 2004

Loss of heterozygosity and reduced expression of the CUTL1 gene in uterine leiomyomas

article

MED23-associated refractory epilepsy successfully treated with the ketogenic diet.

artículo científico publicado en 2016

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

artículo científico publicado en 2007

Mapping the midkine family of developmentally regulated signaling molecules

artículo científico publicado en 1993

Mechanisms of formation of structural variation in a fully sequenced human genome

artículo científico publicado en 2012

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

scientific article published on 11 June 2019

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

artículo científico publicado en 2014

Methods for identifying and mapping recent segmental and gene duplications in eukaryotic genomes

artículo científico publicado en 2006

Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.

artículo científico publicado en 2016

Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation

artículo científico publicado en 2015

Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions

artículo científico publicado en 2016

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

artículo científico publicado en 2011

Molecular Cytogenetics of Autism

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

artículo científico publicado en 2015

Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong.

artículo científico publicado en 2007

Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome

artículo científico publicado en 2006

Molecular basis for expression of common and rare fragile sites

artículo científico publicado en 2003

Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome

artículo científico publicado en 2013

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.

artículo científico publicado en 2016

Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus.

artículo científico publicado en 2003

Molecular characterization of a common fragile site (FRA7H) on human chromosome 7 by the cloning of a simian virus 40 integration site.

artículo científico publicado en 1998

Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome

artículo científico publicado en 2002

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.

artículo científico publicado en 2013

Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma

artículo científico publicado en 2009

Murine segmental duplications are hot spots for chromosome and gene evolution

article

Mutation of the CLN6 Gene in Teenage-Onset Progressive Myoclonus Epilepsy

article

Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands

artículo científico publicado en 2004

Mutations in NHLRC1 cause progressive myoclonus epilepsy

artículo científico publicado en 2003

Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

artículo científico publicado en 2017

Mutations in SUFU predispose to medulloblastoma

artículo científico publicado en 2002

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

artículo científico publicado en 2010

Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism

artículo científico publicado en 2013

Neuregulin 1-alpha regulates phosphorylation, acetylation, and alternative splicing in lymphoblastoid cells

artículo científico

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

scientific article published on 09 July 2019

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

article

Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy

artículo científico publicado en 2005

Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism

artículo científico publicado en 2011

Novel population specific autosomal copy number variation and its functional analysis amongst Negritos from Peninsular Malaysia

artículo científico publicado en 2014

OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome

artículo científico publicado en 2018

Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children

artículo científico publicado en 2005

On the road to tractability: the current biochemical understanding of progressive myoclonus epilepsies

artículo científico publicado en 2006

Origins and functional impact of copy number variation in the human genome

artículo científico publicado en 2010

Outfoxed by RBFOX1-a caution about ascertainment bias.

artículo científico publicado en 2014

Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders

artículo científico publicado en 2017

P450RAI (CYP26A1) maps to human chromosome 10q23-q24 and mouse chromosome 19C2-3

artículo científico publicado en 1998

PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome

artículo científico publicado en 2018

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

artículo científico publicado en 2015

PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7.

artículo científico publicado en 1997

Paraoxonase-2 G148 variant in an aboriginal Canadian girl with non-insulin-dependent diabetes

article

Paraoxonase-2 Gene (PON2) G148 Variant Associated with Elevated Fasting Plasma Glucose in Noninsulin-Dependent Diabetes Mellitus1 ⬇️

artículo científico publicado el 1 de octubre de 1997

Parents' perspectives on participating in genetic research in autism

artículo científico publicado en 2013

Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay

scientific article published on 14 July 2018

Paternally inherited cis-regulatory structural variants are associated with autism.

artículo científico publicado en 2018

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size

scientific article published on 01 September 2019

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays

artículo científico publicado en 2013

Performance of case-control rare copy number variation annotation in classification of autism

artículo científico publicado en 2015

Performance of high-throughput sequencing for the discovery of genetic variation across the complete size spectrum.

artículo científico publicado en 2014

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

artículo científico publicado en 2018

Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing

scientific article published on 19 February 2014

Phenotypic Association Analyses With Copy Number Variation in Recurrent Depressive Disorder

artículo científico publicado en 2015

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder

artículo científico publicado en 2014

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

artículo científico publicado en 2009

Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder

artículo científico publicado en 2011

Physical mapping of a tandem duplication on the long arm of chromosome 7 associated with a multidrug resistant phenotype.

artículo científico

Population Differences in the Polyalanine Domain and 6 New Mutations in HLXB9 in Patients with Currarino Syndrome

artículo científico publicado en 2005

Post-transcriptional regulation of endothelial nitric-oxide synthase by an overlapping antisense mRNA transcript

artículo científico publicado en 2004

Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation

scientific article published on 01 December 2019

Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders

scientific article published on 05 December 2019

Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus

article

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders

artículo científico publicado en 2014

Prepublication data sharing

artículo científico publicado en 2009

Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism

artículo científico publicado en 2015

Progress in the genetics of autism spectrum disorder.

artículo científico publicado en 2018

Protein therapy for Unverricht-Lundborg disease using cystatin B transduction by TAT-PTD. Is it that simple?

artículo científico publicado en 2006

Psychiatric gene discoveries shape evidence on ADHD's biology

artículo científico publicado en 2015

Public data archives for genomic structural variation

artículo científico publicado en 2010

RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes

artículo científico publicado en 2021

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease

artículo científico publicado en 2014

Race and ancestry in biomedical research: exploring the challenges

artículo científico publicado en 2009

Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder

artículo científico publicado en 2022

Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy

artículo científico publicado en 2016

Rare Copy Number Variation In an Extremely Impulsively Violent Males

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome

artículo científico publicado en 2017

Rare copy number variants contribute to congenital left-sided heart disease

artículo científico publicado en 2012

Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.

artículo científico publicado en 2011

Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders

article

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways

artículo científico publicado en 2012

Rare copy number variations in an adult with transposition of the great arteries emphasize the importance of updated genetic assessments in syndromic congenital cardiac disease.

artículo científico publicado en 2015

Rare de novo deletion of metabotropic glutamate receptor 7 (GRM7) gene in a patient with autism spectrum disorder

artículo científico

Rare deletions at the neurexin 3 locus in autism spectrum disorder

artículo científico publicado en 2012

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

artículo científico publicado en 2013

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

artículo científico publicado en 2011

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

artículo científico publicado en 2017

Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels

scientific article published on 09 December 2019

Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors

artículo científico publicado en 2018

Recent segmental and gene duplications in the mouse genome

artículo científico publicado en 2003

Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

artículo científico publicado en 2014

Refined localization of the asparagine synthetase gene (ASNS) to chromosome 7, region q21.3, and characterization of the somatic cell hybrid line 4AF/106/KO15.

artículo científico publicado en 1994

Refining critical regions in 15q24 microdeletion syndrome pertaining to autism

scientific article published on 18 January 2020

Relative impact of nucleotide and copy number variation on gene expression phenotypes

artículo científico publicado en 2007

Remarkable sequence signatures in archaeal genomes

artículo científico publicado en 2003

Remote ischemic preconditioning in children undergoing cardiac surgery with cardiopulmonary bypass: a single-center double-blinded randomized trial

artículo científico publicado en 2014

Resources for human genetics on the World Wide Web

article

Risk factors for autism: translating genomic discoveries into diagnostics

artículo científico publicado en 2011

SHANK1 Deletions in Males with Autism Spectrum Disorder

artículo científico publicado en 2012

SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons

artículo científico publicado en 2019

SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report

artículo científico publicado en 2008

STXBP1 encephalopathy is associated with awake bruxism

scientific article published on 14 January 2019

Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome

artículo científico publicado en 2009

Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees

artículo científico publicado en 2020

Sequence variants within exon 1 of MECP2 occur in females with mental retardation

artículo científico publicado en 2007

Sequencing of isolated sperm cells for direct haplotyping of a human genome

artículo científico publicado en 2013

Severe expressive-language delay related to duplication of the Williams-Beuren locus

artículo científico publicado en 2005

Severe intellectual disability and autistic features associated with microduplication 2q23.1.

artículo científico publicado en 2011

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

artículo científico publicado en 2020

Single cell-derived clonal analysis of human glioblastoma links functional and genomic heterogeneity

artículo científico publicado en 2015

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells

artículo científico publicado en 2021

Small GTPase Rac1: structure, localization, and expression of the human gene.

artículo científico publicado en 2000

Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2.

artículo científico publicado en 2006

Strategies for the detection of copy number and other structural variants in the human genome

artículo científico publicado en 2006

Structural neuroimaging correlates of social deficits are similar in autism spectrum disorder and attention-deficit/hyperactivity disorder: analysis from the POND Network

artículo científico publicado en 2019

Structural organization and chromosomal localization of the human Na,K-ATPase beta 3 subunit gene and pseudogene.

artículo científico publicado en 1998

Structural variants: changing the landscape of chromosomes and design of disease studies

artículo científico publicado en 2006

Structural variation in the human genome

artículo científico publicado en 2006

Structural variation of chromosomes in autism spectrum disorder

artículo científico publicado en 2008

Subgroup-specific alternative splicing in medulloblastoma

artículo científico publicado en 2012

Subgroup-specific structural variation across 1,000 medulloblastoma genomes

artículo científico publicado en 2012

Synaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-AS

scientific article published on 29 July 2019

Synaptic, transcriptional and chromatin genes disrupted in autism

artículo científico publicado en 2014

Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach

artículo científico publicado en 2017

TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations

artículo científico publicado en 2013

The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.

artículo científico publicado en 2016

The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses

artículo científico publicado en 2014

The BCL7 gene family: deletion of BCL7B in Williams syndrome.

artículo científico publicado en 1998

The Cerebral Palsy Demonstration Project: A Multidimensional Research Approach to Cerebral Palsy

artículo científico publicado en 2011

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

artículo científico publicado en 2013

The Human Metabotropic Glutamate Receptor 8 (GRM8) Gene: A Disproportionately Large Gene Located at 7q31.3–q32.1 ⬇️

artículo científico publicado el 1 de septiembre de 1997

The NeuroDevNet Autism Spectrum Disorders Demonstration Project

artículo científico publicado en 2011

The RAY1/ST7 tumor-suppressor locus on chromosome 7q31 represents a complex multi-transcript system

artículo científico publicado en 2002

The Third International Genomic Medicine Conference (3rd IGMC, 2015): overall activities and outcome highlights

artículo científico publicado en 2016

The clinical context of copy number variation in the human genome

artículo científico publicado en 2010

The clinical impact of copy number variants in inherited bone marrow failure syndromes

artículo científico publicado en 2017

The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.

artículo científico publicado en 2008

The cycle of genome-directed medicine

artículo científico publicado en 2009

The diploid genome sequence of an individual human

artículo científico publicado en 2007

The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35

artículo científico publicado en 2001

The hyaluronidase gene HYAL1 maps to chromosome 3p21.2-p21.3 in human and 9F1-F2 in mouse, a conserved candidate tumor suppressor locus

artículo científico publicado en 1998

The mouse genome sequence--the end of the tail, or just the beginning?

artículo científico publicado en 2003

The phenotypic manifestations of rare genic CNVs in autism spectrum disorder

artículo científico publicado en 2014

The population genomic landscape of human genetic structure, admixture history and local adaptation in Peninsular Malaysia

artículo científico publicado en 2014

Towards a comprehensive structural variation map of an individual human genome

artículo científico publicado en 2010

Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome ⬇️

artículo científico publicado el 1 de julio de 1997

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

artículo científico publicado en 2021

Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation

artículo científico publicado en 2016

Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10

artículo científico publicado en 2017

Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

scientific article published on 09 November 2020

Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes

artículo científico publicado en 2014

Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder

artículo científico publicado en 2017

Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes

artículo científico publicado en 2017

Variation in the AU(AT)-rich element within the 3'-untranslated region of PPP1R3 is associated with variation in plasma glucose in aboriginal Canadians

artículo científico publicado en 1998

VikNGS: a C++ variant integration kit for next generation sequencing association analysis

artículo científico publicado en 2020

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

artículo científico publicado en 2016

Whole genome scanning: resolving clinical diagnosis and management amidst complex data

artículo científico publicado en 2009

Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy

artículo científico publicado en 2022

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

artículo científico publicado en 2017

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

artículo científico publicado en 2015

Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome

artículo científico publicado en 2015

Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome

artículo científico publicado en 2015

Whole-genome sequencing of quartet families with autism spectrum disorder

artículo científico publicado en 2015

Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease

artículo científico publicado en 2017

X-linked vacuolar myopathies: Two separate loci and refined genetic mapping

scientific article published on 01 May 2000

cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP).

artículo científico publicado en 1999

or human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks

artículo científico publicado en 2019

p200 ARF-GEP1: a Golgi-localized guanine nucleotide exchange protein whose Sec7 domain is targeted by the drug brefeldin A

artículo científico publicado en 1999

α5GABAA receptor deficiency causes autism-like behaviors

artículo científico publicado en 2016

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