Stephen W. Scherer
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Canadian geneticist and genomicist
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Why Is Stephen W. Scherer Influential?
(Suggest an Edit or Addition)According to Wikipedia, Stephen Wayne "Steve" Scherer is a Canadian scientist who studies genetic variation in human disease. He obtained his PhD at the University of Toronto under Professor Lap-chee Tsui. Together they founded Canada's first human genome centre, the Centre for Applied Genomics at the Hospital for Sick Children. He continues to serve as director of TCAG, and is also a University Professor in the Department of Molecular Genetics, and the director of the McLaughlin Centre at the Temerty Faculty of Medicine at the University of Toronto.
Stephen W. Scherer's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Global variation in copy number in the human genome (2006) (4283)
- Detection of large-scale variation in the human genome (2004) (2971)
- Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. (2010) (2348)
- Synaptic, transcriptional, and chromatin genes disrupted in autism (2014) (2080)
- Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs (2013) (2011)
- Origins and functional impact of copy number variation in the human genome (2010) (1899)
- Functional impact of global rare copy number variation in autism spectrum disorders (2010) (1891)
- The Diploid Genome Sequence of an Individual Human (2007) (1842)
- Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency (1999) (1742)
- Structural variation of chromosomes in autism spectrum disorder. (2008) (1740)
- Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes (2007) (1734)
- Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas (1997) (1501)
- Analysis of shared heritability in common disorders of the brain (2016) (1385)
- Mapping autism risk loci using genetic linkage and chromosomal rearrangements (2007) (1382)
- Mutations in the human Sonic Hedgehog gene cause holoprosencephaly (1996) (1136)
- A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects: CNV Analysis Group and the Schizophrenia Working Group of the Psychiatric Genomics Consortium (2016) (1125)
- Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (2018) (1064)
- The human splicing code reveals new insights into the genetic determinants of disease (2015) (1040)
- The Database of Genomic Variants: a curated collection of structural variation in the human genome (2013) (1027)
- Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene. (1993) (903)
- MADR2 Maps to 18q21 and Encodes a TGFβ–Regulated MAD–Related Protein That Is Functionally Mutated in Colorectal Carcinoma (1996) (900)
- Copy number variation: new insights in genome diversity. (2006) (832)
- Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders (2014) (814)
- Mutations in SUFU predispose to medulloblastoma (2002) (808)
- Subgroup-specific structural variation across 1,000 medulloblastoma genomes (2012) (760)
- Structural variation in the human genome (2006) (755)
- Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects (2016) (736)
- A copy number variation map of the human genome (2015) (680)
- Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways (2015) (676)
- Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly (1996) (656)
- Copy-number variations associated with neuropsychiatric conditions (2008) (629)
- Contribution of SHANK3 mutations to autism spectrum disorder. (2007) (608)
- Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls (2010) (600)
- Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder (2017) (575)
- A genome-wide scan for common alleles affecting risk for autism (2010) (567)
- Cone-Rod Dystrophy Due to Mutations in a Novel Photoreceptor-Specific Homeobox Gene ( CRX ) Essential for Maintenance of the Photoreceptor (1997) (545)
- Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation (2010) (517)
- Epigenomic alterations define lethal CIMP-positive ependymomas of infancy (2014) (507)
- Genetic architecture in autism spectrum disorder. (2012) (484)
- Identifying Signatures of Natural Selection in Tibetan and Andean Populations Using Dense Genome Scan Data (2010) (483)
- Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy (1998) (479)
- Whole-genome sequencing of quartet families with autism spectrum disorder (2015) (467)
- Genome-wide association study of copy number variation in 16,000 cases of eight common diseases and 3,000 shared controls (2010) (465)
- Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly (2002) (460)
- A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 (2001) (460)
- Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments (2014) (452)
- Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. (2013) (443)
- Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma (2009) (430)
- Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus (2011) (428)
- Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing (2000) (413)
- Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants (2011) (405)
- Challenges and standards in integrating surveys of structural variation (2007) (390)
- Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. (1998) (378)
- The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein (1999) (373)
- Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders (2012) (371)
- Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test (2017) (350)
- Individual common variants exert weak effects on the risk for autism spectrum disorders (2012) (346)
- A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome (2004) (343)
- Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD (2011) (342)
- Severe expressive-language delay related to duplication of the Williams-Beuren locus. (2005) (330)
- Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. (2015) (325)
- Single cell-derived clonal analysis of human glioblastoma links functional and genomic heterogeneity (2014) (319)
- A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome (2001) (319)
- Clonal Selection Drives Genetic Divergence of Metastatic Medulloblastoma (2012) (317)
- Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa (2019) (314)
- Towards a comprehensive structural variation map of an individual human genome (2010) (312)
- Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia (2017) (301)
- Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers (2015) (295)
- A role for common fragile site induction in amplification of human oncogenes. (2002) (294)
- A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis (1998) (293)
- Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia (2001) (292)
- GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome. (2003) (289)
- SHANK1 Deletions in Males with Autism Spectrum Disorder. (2012) (284)
- A genome-wide association study of anorexia nervosa (2014) (284)
- Mutations in NHLRC1 cause progressive myoclonus epilepsy (2003) (280)
- Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders (2019) (280)
- Structural variants: changing the landscape of chromosomes and design of disease studies. (2006) (278)
- Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization (2014) (260)
- Molecular Cloning of the Human Gene, PNKP, Encoding a Polynucleotide Kinase 3′-Phosphatase and Evidence for Its Role in Repair of DNA Strand Breaks Caused by Oxidative Damage* (1999) (256)
- Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder (2009) (254)
- Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence (2003) (250)
- Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine (2016) (249)
- Copy-number variation in control population cohorts. (2007) (245)
- Genome-Wide Analysis of Copy Number Variants in Attention Deficit Hyperactivity Disorder: The Role of Rare Variants and Duplications at 15q13.3 (2012) (245)
- Cytogenetic prognostication within medulloblastoma subgroups. (2014) (242)
- Molecular Basis for Expression of Common and Rare Fragile Sites (2003) (238)
- FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project. (2014) (234)
- Expression analysis of six paralogous human hyaluronidase genes clustered on chromosomes 3p21 and 7q31. (1999) (232)
- Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome (2006) (231)
- Hotspots for copy number variation in chimpanzees and humans. (2006) (230)
- Molecular analysis of the PDS gene in Pendred syndrome. (1998) (228)
- Molecular characterization of a common fragile site (FRA7H) on human chromosome 7 by the cloning of a simian virus 40 integration site. (1998) (225)
- Frequent amplification of a chr19q13.41 microRNA polycistron in aggressive primitive neuroectodermal brain tumors. (2009) (217)
- Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing (2010) (214)
- Human Chromosome 7: DNA Sequence and Biology (2003) (208)
- Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder (2015) (206)
- Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. (1996) (204)
- Excessive genomic DNA copy number variation in the Li–Fraumeni cancer predisposition syndrome (2008) (199)
- Rare deletions at the neurexin 3 locus in autism spectrum disorder. (2012) (198)
- Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. (2006) (198)
- Genome-wide characteristics of de novo mutations in autism (2016) (195)
- Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability (2010) (193)
- Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays. (2006) (192)
- Prepublication data sharing (2009) (190)
- Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease. (2010) (190)
- Rates, Distribution, and Implications of Post-zygotic Mosaic Mutations in Autism Spectrum Disorder (2017) (187)
- A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder (2011) (186)
- Discovery of Human Inversion Polymorphisms by Comparative Analysis of Human and Chimpanzee DNA Sequence Assemblies (2005) (185)
- A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder (2012) (184)
- Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome (2008) (179)
- Human PON2 gene at 7q21.3: cloning, multiple mRNA forms, and missense polymorphisms in the coding sequence. (1998) (175)
- The clinical context of copy number variation in the human genome (2010) (175)
- Cloning and Characterization of PDK4 on 7q21.3 Encoding a Fourth Pyruvate Dehydrogenase Kinase Isoenzyme in Human* (1996) (175)
- Expanded Repeat in Canine Epilepsy (2005) (173)
- Genome assembly comparison identifies structural variants in the human genome (2006) (171)
- Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome. (2001) (170)
- Autism spectrum disorder: advances in evidence-based practice (2014) (167)
- Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly. (1997) (166)
- Gene and miRNA expression profiles in autism spectrum disorders (2011) (165)
- Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease. (1997) (162)
- Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways (2012) (160)
- Accurate and reliable high-throughput detection of copy number variation in the human genome. (2006) (159)
- 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. (1994) (157)
- Dysregulation of cyclin dependent kinase 6 expression in splenic marginal zone lymphoma through chromosome 7q translocations (1999) (150)
- Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements. (2003) (147)
- Germ-line DNA copy number variation frequencies in a large North American population (2007) (146)
- Molecular cytogenetic delineation of deletions and translocations involving chromosome band 7q22 in myeloid leukemias. (1997) (146)
- Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder (2014) (144)
- A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data. (2018) (144)
- Paternally inherited cis-regulatory structural variants are associated with autism (2018) (144)
- Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy. (2005) (142)
- Involvement of the HLXB9 homeobox gene in Currarino syndrome. (2000) (139)
- Post-transcriptional Regulation of Endothelial Nitric-oxide Synthase by an Overlapping Antisense mRNA Transcript* (2004) (138)
- Germline Mutation of RPS20, Encoding a Ribosomal Protein, Causes Predisposition to Hereditary Nonpolyposis Colorectal Carcinoma Without DNA Mismatch Repair Deficiency (2014) (138)
- Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. (2013) (136)
- Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. (2013) (136)
- Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. (2014) (135)
- CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions (2017) (135)
- Risk factors for autism: translating genomic discoveries into diagnostics (2011) (130)
- Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease (2012) (130)
- Mutation screening of X‐chromosomal neuroligin genes: No mutations in 196 autism probands (2004) (129)
- Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2 (2006) (127)
- Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology (2011) (127)
- Replication Delay along FRA7H, a Common Fragile Site on Human Chromosome 7, Leads to Chromosomal Instability (2000) (126)
- HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis (2015) (125)
- Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly. (1994) (123)
- Clinically relevant copy number variations detected in cerebral palsy (2015) (122)
- EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines. (2010) (121)
- Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual. (2000) (119)
- Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. (1996) (118)
- Race and ancestry in biomedical research: exploring the challenges (2009) (118)
- Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications (2016) (118)
- Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays. (2013) (117)
- p200 ARF-GEP1: a Golgi-localized guanine nucleotide exchange protein whose Sec7 domain is targeted by the drug brefeldin A. (1999) (117)
- A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism (2012) (114)
- Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. (2008) (114)
- Molecular characterization of zyme/protease M/neurosin (PRSS9), a hormonally regulated kallikrein-like serine protease. (1999) (113)
- Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly (1997) (110)
- A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes. (2011) (109)
- Colorectal carcinomas in mice lacking the catalytic subunit of PI(3)Kγ (2000) (109)
- Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. (2014) (109)
- Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors (2018) (108)
- Endothelial Nitric-oxide Synthase Antisense (NOS3AS) Gene Encodes an Autophagy-related Protein (APG9-like2) Highly Expressed in Trophoblast* (2005) (108)
- Molecular cytogenetic characterization of a critical region in bands 7q35-q36 commonly deleted in malignant myeloid disorders. (1998) (107)
- Genetic variation at the ACE gene is associated with persistent microalbuminuria and severe nephropathy in type 1 diabetes: the DCCT/EDIC Genetics Study. (2005) (107)
- Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1. (1994) (106)
- Genome-wide detection of tandem DNA repeats that are expanded in autism (2020) (106)
- Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature (2014) (105)
- Progress in the genetics of autism spectrum disorder (2018) (104)
- Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling (2018) (103)
- Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. (2017) (101)
- Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome (2010) (101)
- Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing (2015) (101)
- Association and Mutation Analyses of 16p11.2 Autism Candidate Genes (2009) (101)
- Paraoxonase-2 gene (PON2) G148 variant associated with elevated fasting plasma glucose in noninsulin-dependent diabetes mellitus. (1997) (100)
- Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy. (2004) (100)
- SHANK2 mutations associated with Autism Spectrum Disorder cause hyperconnectivity of human neurons (2019) (99)
- Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families (2014) (97)
- Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability (2010) (96)
- Biological Overlap of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder: Evidence From Copy Number Variants (2014) (96)
- Loss of heterozygosity and reduced expression of the CUTL1 gene in uterine leiomyomas (1997) (95)
- Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations (2008) (95)
- Recent segmental and gene duplications in the mouse genome (2003) (94)
- Identification of the Imprinted KLF14 Transcription Factor Undergoing Human-Specific Accelerated Evolution (2007) (93)
- Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome. (2002) (93)
- A large data resource of genomic copy number variation across neurodevelopmental disorders (2019) (92)
- Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease. (2019) (91)
- Molecular definition of a narrow interval at 7q22.1 associated with myelodysplasia. (1996) (89)
- Progressive myoclonus epilepsy with polyglucosans (Lafora disease) (2004) (89)
- 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. (2008) (88)
- A common variant in PPP1R3 associated with insulin resistance and type 2 diabetes. (1998) (88)
- The hyaluronidase gene HYAL1 maps to chromosome 3p21.2-p21.3 in human and 9F1-F2 in mouse, a conserved candidate tumor suppressor locus. (1998) (86)
- Molecular Cytogenetics of Autism (2004) (86)
- Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons (2018) (86)
- Structure and mapping of the human lanosterol 14alpha-demethylase gene (CYP51) encoding the cytochrome P450 involved in cholesterol biosynthesis; comparison of exon/intron organization with other mammalian and fungal CYP genes. (1996) (85)
- Physical mapping of the holoprosencephaly critical region on chromosome 7q36 (1993) (83)
- Contemplating effects of genomic structural variation (2008) (83)
- Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach (2017) (82)
- Genetic analysis of patients with the Saethre-Chotzen phenotype. (2002) (82)
- Public data archives for genomic structural variation (2010) (82)
- CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems (2014) (80)
- Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse (2007) (80)
- 1q21.1 Microduplication expression in adults (2012) (80)
- Ankrd11 is a chromatin regulator involved in autism that is essential for neural development. (2015) (79)
- Failure of a medulloblastoma-derived mutant of SUFU to suppress WNT signaling (2004) (79)
- Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22 (2003) (78)
- Phase Separation as a Missing Mechanism for Interpretation of Disease Mutations (2020) (78)
- Detection and characterization of copy number variation in autism spectrum disorder. (2012) (78)
- Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome. (1997) (78)
- Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing (2018) (77)
- PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7. (1997) (77)
- Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C (2013) (76)
- Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome. (2017) (76)
- A third human carnitine/organic cation transporter (OCTN3) as a candidate for the 5q31 Crohn's disease locus (IBD5). (2003) (75)
- Delineation of multiple deleted regions in 7q in myeloid disorders (1999) (75)
- Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein family. (2003) (75)
- De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy (2017) (74)
- Small GTPase Rac1: structure, localization, and expression of the human gene. (2000) (73)
- Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN) (2015) (72)
- A high-resolution copy-number variation resource for clinical and population genetics (2014) (72)
- Sequencing of isolated sperm cells for direct haplotyping of a human genome (2013) (72)
- Contribution of SHANK 3 Mutations to Autism Spectrum Disorder (2007) (71)
- A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36. (1999) (70)
- Early-onset Lafora body disease. (2012) (70)
- Genetic variation in paraoxonase-1 and paraoxonase-2 is associated with variation in plasma lipoproteins in Alberta Hutterites. (1998) (69)
- Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome. (1997) (69)
- The XRCC2 DNA repair gene: identification of a positional candidate. (1997) (68)
- Whole Genome Scanning: Resolving Clinical Diagnosis and Management Amidst Complex Data (2009) (68)
- Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes (2014) (68)
- Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. (2005) (67)
- Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome. (1999) (67)
- Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L. (2016) (67)
- OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome (2018) (67)
- Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors (2020) (66)
- t(7;12)(q36;p13), a new recurrent translocation involving ETV6 in infant leukemia (2000) (65)
- Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression (2016) (64)
- Structural characterization and mapping of the normal epithelial cell-specific 1 gene. (1998) (64)
- Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes (2016) (63)
- Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes (2016) (63)
- ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data (2019) (63)
- Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome (2020) (62)
- Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32. (2002) (62)
- Molecular cloning, expression and physical mapping of the human methionine synthase reductase gene. (1999) (61)
- Ankrd11 is a chromatin regulator involved in autism that is essential for neural development (2015) (61)
- 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes (2015) (60)
- Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay. (2005) (60)
- Remote Ischemic Preconditioning in Children Undergoing Cardiac Surgery With Cardiopulmonary Bypass: A Single‐Center Double‐Blinded Randomized Trial (2014) (60)
- 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. (1998) (59)
- Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia (2015) (58)
- Lafora progressive myoclonus epilepsy mutation database‐EPM2A and NHLRC1 (EMP2B) genes (2005) (57)
- Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome (2006) (57)
- Characterization of terminal deletions at 7q32 and 22q13.3 healed by De novo telomere addition. (2000) (57)
- A framework for an evidence-based gene list relevant to autism spectrum disorder (2020) (56)
- PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. (2015) (56)
- Network Topologies and Convergent Aetiologies Arising from Deletions and Duplications Observed in Individuals with Autism (2013) (56)
- Structural neuroimaging correlates of social deficits are similar in autism spectrum disorder and attention-deficit/hyperactivity disorder: analysis from the POND Network (2019) (56)
- Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk (2018) (55)
- Gene structure of the human MET proto-oncogene (1997) (54)
- The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism (2014) (54)
- Genome-Wide Survey of Large Rare Copy Number Variants in Alzheimer’s Disease Among Caribbean Hispanics (2012) (54)
- Copy Number Variable MicroRNAs in Schizophrenia and Their Neurodevelopmental Gene Targets (2015) (54)
- Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS (2019) (53)
- The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants (2018) (53)
- Identification of candidate intergenic risk loci in autism spectrum disorder (2013) (53)
- Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5. (2001) (53)
- Frequent appearance of novel protein-coding sequences by frameshift translation. (2006) (53)
- Psychiatric gene discoveries shape evidence on ADHD's biology (2015) (52)
- CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks (2018) (52)
- The BCL7 gene family: deletion of BCL7B in Williams syndrome. (1998) (52)
- Genome Wide Association Analysis of Copy Number Variation in Recurrent Depressive Disorder (2011) (51)
- Identification of a 1300 kilobase deletion unit on chromosome 7q31.3 in invasive epithelial ovarian carcinomas (1997) (51)
- Individualized medicine enabled by genomics in Saudi Arabia (2015) (51)
- Laforin is a cell membrane and endoplasmic reticulum–associated protein tyrosine phosphatase (2001) (51)
- The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome (2003) (51)
- Copy number variation in Han Chinese individuals with autism spectrum disorder (2014) (51)
- Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation (2016) (51)
- 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. (2001) (50)
- Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31. (2001) (50)
- Evaluating genetic counseling for individuals with schizophrenia in the molecular age. (2014) (50)
- An inversion inv(4)(p12–p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster (2005) (49)
- The RAY1/ST7 tumor-suppressor locus on chromosome 7q31 represents a complex multi-transcript system. (2002) (49)
- Complex Copy Number Variation of AMY1 does not Associate with Obesity in two East Asian Cohorts (2016) (48)
- Sequence Analysis and Chromosomal Localization of Human Cap Z (1995) (48)
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- Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot (2018) (47)
- Chromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: a possible contributor to the holoprosencephaly 3 phenotype. (1996) (46)
- Detailed deletion mapping with a refined physical map of 7q31 localizes a putative tumor suppressor gene for breast cancer in the region of MET. (1996) (46)
- CAOS—Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss (2015) (46)
- Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants (2019) (46)
- TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations (2013) (44)
- Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19. (2021) (43)
- DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes (2020) (43)
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- Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31. (1996) (43)
- Characterization of the human myeloid leukemia‐derived cell line GF‐D8 by multiplex fluorescence in situ hybridization, subtelomeric probes, and comparative genomic hybridization (1999) (43)
- Type II Citrullinemia (Citrin Deficiency): A Mysterious Disease caused by a Defect of Calcium-Binding Mitochondrial Carrier Protein (2000) (42)
- Genomic imprinting of PPP1R9A encoding neurabin I in skeletal muscle and extra-embryonic tissues (2004) (42)
- Absent CNKSR2 causes seizures and intellectual, attention, and language deficits (2014) (42)
- Identification of new and common mutations in the EPM2A gene in Lafora disease (2000) (42)
- 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 (2009) (41)
- Synaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-AS (2020) (41)
- Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation (2015) (41)
- Skin biopsy in Lafora disease (2003) (41)
- Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy (2015) (41)
- Mechanisms of Formation of Structural Variation in a Fully Sequenced Human Genome (2013) (41)
- Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy (1999) (41)
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- Localization of two metabotropic glutamate receptor genes, GRM3 and GRM8, to human chromosome 7q. (1996) (40)
- Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3. (1996) (40)
- Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly (1998) (39)
- Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human. (1999) (38)
- Human secretin (SCT): gene structure, chromosome location, and distribution of mRNA (2000) (38)
- Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy (2004) (38)
- Parents’ Perspectives on Participating in Genetic Research in Autism (2013) (38)
- Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches (2019) (37)
- α5GABAA receptor deficiency causes autism‐like behaviors (2016) (37)
- Genomic structure of the human congenital chloride diarrhea (CLD) gene. (1998) (37)
- Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study (2017) (37)
- Observation of a parental inversion variant in a rare Williams–Beuren syndrome family with two affected children (2005) (36)
- Assignment of growth factor receptor-bound protein 10 (GRB10) to human chromosome 7p11.2-p12. (1997) (36)
- The phenotypic manifestations of rare genic CNVs in autism spectrum disorder (2014) (36)
- Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder (2016) (36)
- The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease (2020) (36)
- A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3 (2011) (35)
- Duplication and relocation of the functional DPY19L2 gene within low copy repeats (2006) (35)
- Regional localization of 725 human chromosome 7-specific yeast artificial chromosome clones. (1994) (35)
- Early BrdU-responsive genes constitute a novel class of senescence-associated genes in human cells. (2005) (35)
- Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes (2017) (35)
- Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation (2013) (35)
- Using ancestry-informative markers to identify fine structure across 15 populations of European origin (2014) (34)
- The population genomic landscape of human genetic structure, admixture history and local adaptation in Peninsular Malaysia (2014) (34)
- The common inversion of the Williams–Beuren syndrome region at 7q11.23 does not cause clinical symptoms (2008) (34)
- A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus (2013) (34)
- Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay (2008) (33)
- Comparative analysis of the paired immunoglobulin-like receptor (PILR) locus in six mammalian genomes: duplication, conversion, and the birth of new genes. (2006) (33)
- Implication of LRRC4C and DPP6 in neurodevelopmental disorders (2017) (33)
- Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency. (1998) (33)
- Human Genome Variation 2006: emerging views on structural variation and large-scale SNP analysis (2007) (33)
- The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses (2014) (33)
- Heterogeneity of the 7q36 breakpoints in the t(7;12) involving ETV6 in infant leukemia (2003) (33)
- Localization of the human dihydrolipoamide dehydrogenase gene (DLD) to 7q31----q32. (1991) (33)
- Severe intellectual disability and autistic features associated with microduplication 2q23.1 (2011) (32)
- Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation. (1994) (32)
- The human metabotropic glutamate receptor 8 (GRM8) gene: a disproportionately large gene located at 7q31.3-q32.1. (1997) (32)
- Performance of High-Throughput Sequencing for the Discovery of Genetic Variation Across the Complete Size Spectrum (2013) (32)
- Evolutionary implications of inversions that have caused intra-strand parity in DNA (2007) (31)
- Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders (2017) (31)
- Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly (2017) (31)
- Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay (2016) (31)
- Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient. (1995) (31)
- Characterization of an Autism-Associated Segmental Maternal Heterodisomy of the Chromosome 15q11–13 Region (2007) (31)
- Speech and Language Impairment and Oromotor Dyspraxia Due to Deletion of 7 q 31 That Involves FOXP 2 (2006) (31)
- 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 (2015) (30)
- Development of a high-resolution Y-chromosome microarray for improved male infertility diagnosis. (2014) (30)
- Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders (2018) (30)
- A CGG‐Repeat Expansion Mutation in ZNF713 Causes FRA7A: Association with Autistic Spectrum Disorder in Two Families (2014) (30)
- Strategies for the detection of copy number and other structural variants in the human genome (2006) (30)
- Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity (2020) (29)
- Genetic variation in paraoxonase‐2 is associated with variation in plasma lipoproteins in Canadian Oji‐Cree (1998) (29)
- Subgroup-specific alternative splicing in medulloblastoma (2012) (29)
- Variation in the AU(AT)-rich element within the 3'-untranslated region of PPP1R3 is associated with variation in plasma glucose in aboriginal Canadians. (1998) (29)
- Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A. (2016) (28)
- Functional and chromosomal clustering of genes responsive to 5-bromodeoxyuridine in human cells (2004) (28)
- De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome (2018) (28)
- Communicating complex genomic information: A counselling approach derived from research experience with Autism Spectrum Disorder. (2017) (27)
- Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders (2014) (27)
- Gene structure and chromosome localization to 7q21.3 of the human rod photoreceptor transducin gamma-subunit gene (GNGT1). (1996) (27)
- Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray (2017) (27)
- Murine segmental duplications are hot spots for chromosome and gene evolution. (2005) (27)
- Identification of germline genomic copy number variation in familial pancreatic cancer (2012) (27)
- Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia (2017) (27)
- 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features (2011) (27)
- Regional localization of the CCAAT displacement protein gene (CUTL1) to 7q22 by analysis of somatic cell hybrids. (1993) (26)
- Phenotypic Association Analyses With Copy Number Variation in Recurrent Depressive Disorder (2016) (26)
- Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications (2021) (26)
- The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35. (2001) (26)
- 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. (1994) (26)
- New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome (2019) (26)
- Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency (2000) (26)
- Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes (2017) (26)
- A genotype resource for postmortem brain samples from the Autism Tissue Program (2011) (26)
- Human GBF1 is a ubiquitously expressed gene of the sec7 domain family mapping to 10q24. (1998) (26)
- Rare de novo deletion of metabotropic glutamate receptor 7 (GRM7) gene in a patient with autism spectrum disorder (2015) (25)
- Maternal and paternal chromosomes 7 show differential methylation of many genes in lymphoblast DNA. (2001) (25)
- Combined De-Novo Mutation and Non-Random X-Chromosome Inactivation Causing Wiskott-Aldrich Syndrome in a Female with Thrombocytopenia (2013) (25)
- Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome. (2006) (25)
- Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype (2012) (25)
- Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders (2019) (25)
- The human homologue of flamingo, EGFL2, encodes a brain-expressed large cadherin-like protein with epidermal growth factor-like domains, and maps to chromosome 1p13.3-p21.1. (2000) (25)
- Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy. (2012) (24)
- DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants. (2016) (24)
- Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman‐Diamond syndrome (2013) (24)
- Intratumoral Genetic and Functional Heterogeneity in Pediatric Glioblastoma. (2019) (24)
- Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity. (2012) (24)
- Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants (2019) (23)
- Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism (2011) (23)
- Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries. (2016) (23)
- Adult neuropsychiatric expression and familial segregation of 2q13 duplications (2014) (23)
- X‐linked vacuolar myopathies: Two separate loci and refined genetic mapping (2000) (23)
- Control of Long-Term Synaptic Potentiation and Learning by Alternative Splicing of the NMDA Receptor Subunit GluN1. (2019) (23)
- Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size. (2019) (23)
- Meta‐Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort (2019) (22)
- Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions (2016) (22)
- Sequence variants within exon 1 of MECP2 occur in females with mental retardation (2007) (22)
- Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders (2017) (22)
- Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13 (1996) (22)
- Integrated Genomics Identifies Convergence of Ankylosing Spondylitis with Global Immune Mediated Disease Pathways (2015) (22)
- Impact of DNA source on genetic variant detection from human whole-genome sequencing data (2019) (22)
- Molecular characterization of a 12q22‐q24 deletion associated with congenital deafness: Confirmation and refinement of the DFNA25 locus (2002) (22)
- A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34. (1999) (21)
- Genomic organization and transcript analysis of ICAp69, a target antigen in diabetic autoimmunity. (1996) (21)
- Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial (2019) (21)
- Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity (2018) (21)
- Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism (2016) (21)
- Paraoxonase-2 G148 variant in an aboriginal Canadian girl with non-insulin-dependent diabetes (1997) (20)
- DNA Methylation of the Oxytocin Receptor Across Neurodevelopmental Disorders (2021) (20)
- The NeuroDevNet Autism Spectrum Disorders Demonstration Project. (2011) (20)
- ARHGEF9 disease (2017) (20)
- Shared Genetic Risk between Eating Disorder- and Substance-Use-Related Phenotypes: Evidence from Genome-Wide Association Studies (2019) (20)
- Heterogeneity in clinical sequencing tests marketed for autism spectrum disorders (2018) (20)
- Localization of the human mGluR4 gene within an epilepsy susceptibility locus(1). (2001) (20)
- Environmental exposures associated with elevated risk for autism spectrum disorder may augment the burden of deleterious de novo mutations among probands (2021) (19)
- Refined localization and yeast artificial chromosome (YAC) contig--mapping of genes and DNA segments in the 7q21-q32 region. (1993) (19)
- Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature (2021) (19)
- Localization of the gene encoding the α2/δ subunit (CACNL2A) of the human skeletal muscle voltage-dependent Ca2+ channel to chromosome 7q21- q22 by somatic cell hybrid analysis (1994) (19)
- Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome (2015) (18)
- Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes (2015) (18)
- Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta‐analysis (2018) (18)
- Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson’s disease (2017) (18)
- Copy number variation analysis and sequencing of the X-linked mental retardation gene TSPAN7/TM4SF2 in patients with autism spectrum disorder. (2009) (18)
- A YAC-based contig of 1.5 Mb spanning the human multidrug resistance gene region and delineating the amplification unit in three human multidrug-resistant cell lines. (1995) (18)
- Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene (2011) (17)
- Performance of case-control rare copy number variation annotation in classification of autism (2015) (17)
- P450RAI (CYP26A1) maps to human chromosome 10q23-q24 and mouse chromosome 19C2-3. (1998) (17)
- Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology. (2022) (17)
- De Novo Genome and Transcriptome Assembly of the Canadian Beaver (Castor canadensis) (2017) (16)
- Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome (2019) (16)
- Editorial: Secondary vs. Idiopathic Autism (2020) (16)
- Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder. (2011) (16)
- Genescript: DNA Sequence Annotation Pipeline (2003) (16)
- Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation (2019) (16)
- A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees (2018) (16)
- Implications of copy-number variation in the human genome: a time for questions (2006) (16)
- The Cerebral Palsy Demonstration Project: a multidimensional research approach to cerebral palsy. (2011) (16)
- Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences (2020) (16)
- Expression and mutation status of candidate kinases in multiple myeloma (2008) (15)
- 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 (2016) (15)
- Human chromosome 7 circa 2004: a model for structural and functional studies of the human genome. (2004) (15)
- Microcephaly‐capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing (2016) (15)
- Physical mapping of the chromosome 7 breakpoint region in an SLOS patient with t(7;20) (q32.1;q13.2). (1997) (15)
- Assignment of the 5-hydroxytryptamine (serotonin) receptor 5A gene (HTR5A) to human chromosome band 7q36.1. (1996) (15)
- IQCJ-SCHIP1, a novel fusion transcript encoding a calmodulin-binding IQ motif protein. (2006) (15)
- A translocation t(6;7)(p11–p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints (2008) (15)
- Assignment of the human homolog of mouse Dlx3 to Chromosome 17q21.3-q22 by analysis of somatic cell hybrids and fluorescence in situ hybridization (1995) (15)
- Genomic architecture of autism from comprehensive whole-genome sequence annotation (2022) (14)
- Towards a Transcriptional Map of the q21-q22 Region of Chromosome 7 (1994) (14)
- Identifying concerted evolution and gene conversion in mammalian gene pairs lasting over 100 million years (2009) (14)
- Maintenance of hypomethylation status and preferential expression of exogenous humanMDR1/PGY1 gene in mouse L cells by YAC mediated transfer (1997) (14)
- Expression and regulation of glucoamylase from the yeast Schwanniomyces castellii (1990) (14)
- Dynamic variation in allele-specific gene expression of Paraoxonase-1 in murine and human tissues. (2008) (14)
- De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay (2017) (14)
- Copy number variation in fetal alcohol spectrum disorder. (2018) (14)
- Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder—implications of a copy number variation involving DPP10 (2017) (14)
- Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy (2017) (14)
- cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP) (2000) (14)
- Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders (2014) (13)
- Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS). (2006) (13)
- Identification and characterization of an imprinted antisense RNA ( MESTIT 1 ) in the human MEST locus on chromosome 7 q 32 (2002) (13)
- Assignment1 of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24 (2000) (13)
- Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease (2017) (13)
- Analysis of the monomeric alphoid sequences in the pericentromeric region of human chromosome 7 (1999) (13)
- Remarkable sequence signatures in archaeal genomes. (2003) (13)
- Mutation analysis of the origin recognition complex subunit 5 (ORC5L) gene in adult patients with myeloid leukemias exhibiting deletions of chromosome band 7q22 (2001) (12)
- A Third Linear Association Between Olduvai (DUF1220) Copy Number and Severity of the Classic Symptoms of Inherited Autism. (2019) (12)
- Methods for identifying and mapping recent segmental and gene duplications in eukaryotic genomes. (2006) (12)
- Chromosomal localization of phospholipase A2 activating protein, an Ets2 target gene, to 9p21. (1999) (12)
- Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells (2021) (11)
- Altered expression and deletion of RMO1 in osteosarcoma (2005) (11)
- Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization. (2006) (11)
- The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care (2021) (11)
- On the road to tractability: the current biochemical understanding of progressive myoclonus epilepsies. (2006) (11)
- Adult expression of a 3q13.31 microdeletion (2014) (11)
- Genome-wide tandem repeat expansions contribute to schizophrenia risk (2021) (11)
- Quality of life drives patients’ preferences for secondary findings from genomic sequencing (2020) (11)
- Physical mapping of a tandem duplication on the long arm of chromosome 7 associated with a multidrug resistant phenotype. (1999) (11)
- Association and transmission analysis of the FMR1 IVS10 + 14C‐T variant in autism (2004) (11)
- Fine mapping of the human and mouse genes for the type I procollagen COOH-terminal proteinase enhancer protein. (1996) (10)
- Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions (2011) (10)
- Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder (2017) (10)
- Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons (2019) (10)
- DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes (2022) (10)
- MED23‐associated refractory epilepsy successfully treated with the ketogenic diet (2016) (10)
- CCMG Guidelines for Genomic Microarray Testing (2010) (10)
- HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia (2017) (10)
- The cycle of genome-directed medicine (2009) (10)
- 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 (2009) (10)
- Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders (2019) (10)
- Characterization of the segmental duplication LCR7-20 in the human genome. (2004) (10)
- Outfoxed by RBFOX1‐A caution about ascertainment bias (2014) (10)
- Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19 (2020) (9)
- Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome (2021) (9)
- Associations of clinical and inflammatory biomarker clusters with juvenile idiopathic arthritis categories. (2019) (9)
- Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy (2016) (9)
- The clinical impact of copy number variants in inherited bone marrow failure syndromes (2017) (9)
- Localization of 67 exons on a YAC contig spanning 1.5 Mb around the multidrug resistance gene region of human chromosome 7q21.1. (1998) (9)
- Enrichment of loss-of-function and copy number variants in ventricular cardiomyopathy genes in 'lone' atrial fibrillation. (2021) (9)
- Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot (2021) (9)
- RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes (2021) (9)
- Mapping the human growth hormone-releasing hormone receptor (GHRHR) gene to the short arm of chromosome 7 (7p13-p21) near the epidermal growth factor receptor (EGFR) gene. (1994) (9)
- Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) (2016) (8)
- Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease relevant pathologies (2022) (8)
- Characterization of Large Copy Number Variation in Mexican Type 2 Diabetes subjects (2017) (8)
- EHMT1 pathogenic variants and 9q34.3 microdeletions share altered DNA methylation patterns in patients with Kleefstra syndrome (2020) (8)
- Contribution of Multiple Inherited Variants to Autism Spectrum Disorder (ASD) in a Family with 3 Affected Siblings (2021) (8)
- Protein therapy for Unverricht–Lundborg disease using cystatin B transduction by TAT-PTD Is it that simple? (2006) (8)
- Improving imputation in disease-relevant regions: lessons from cystic fibrosis (2018) (8)
- Differential glucoamylase expression in Schwanniomyces castellii induced by maltose (1988) (8)
- Clinical characteristics in patients with interstitial deletions of chromosome region 12q21–q22 and identification of a critical region associated with keratosis pilaris (2014) (8)
- 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. (2016) (8)
- Characterization of the differentially methylated region of the Impact gene that exhibits Glires-specific imprinting (2008) (8)
- Delineation of genomic regions in chromosome band 7q22 commonly deleted in myeloid leukemias. (1998) (8)
- Genome sequencing as a diagnostic test (2021) (8)
- Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders (2020) (7)
- Corrigendum: Colorectal carcinomas in mice lacking the catalytic subunit of PI(3)Kγ (2003) (7)
- Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh (2021) (7)
- Length of uninterrupted CAG repeats, independent of polyglutamine size, results in increased somatic instability and hastened age of onset in Huntington disease (2019) (7)
- Rare copy number variation in extremely impulsively violent males (2018) (7)
- Modeling neuronal consequences of autism-associated gene regulatory variants with human induced pluripotent stem cells (2020) (7)
- Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes (2021) (7)
- Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants (2022) (7)
- De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder (2004) (7)
- Expression and mutation status of candidate kinases in multiple myeloma (2007) (7)
- Novel Population Specific Autosomal Copy Number Variation and Its Functional Analysis amongst Negritos from Peninsular Malaysia (2014) (7)
- Chromosome mapping of the human genes encoding the MAP kinase kinase MEK1 (MAP2K1) to 15q21 and MEK2 (MAP2K2) to 7q32 (2000) (7)
- Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) required for maintenance of the mammalian photoreceptor. (1997) (7)
- Microdeletions of ELP4 are associated with language impairment, autism spectrum disorder and epilepsy (2015) (7)
- PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome (2018) (7)
- Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome (2017) (7)
- Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder (2012) (7)
- A scan statistic to extract causal gene clusters from case-control genome-wide rare CNV data (2011) (7)
- TO JMG Genomic imprinting of PPP 1 R 9 A encoding neurabin I in skeletal muscle and extraembryonic tissues (2004) (7)
- Genome-wide association study of emotional empathy in children (2020) (6)
- Williams-Beuren Syndrome (2006) (6)
- Perceived utility of biological testing for autism spectrum disorder is associated with child and family functioning. (2020) (6)
- Sleep phenotype of individuals with autism spectrum disorder bearing mutations in the PER2 circadian rhythm gene (2021) (6)
- De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients (2016) (6)
- What a finding of gene copy number variation can add to the diagnosis of developmental neuropsychiatric disorders. (2021) (6)
- Mapping the midkine family of developmentally regulated signaling molecules (1993) (6)
- Copy Number Variation in Tourette Syndrome (2017) (6)
- A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome (2017) (6)
- The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations (2022) (6)
- Building Trust in 21st Century Genomics (2013) (6)
- Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders (2019) (6)
- SNPs Meet CNVs in Genome-Wide Association Studies: HGV2007 Meeting Report (2008) (6)
- Localization of the human SP3 gene to chromosome 7p14–p15.2. The lack of expression in multiple sclerosis does not reflect abnormal gene organization (2000) (6)
- Title Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16 p 11 . 2 in individuals ascertained for diagnosis of autism spectrum disorder (6)
- Neuregulin 1-alpha regulates phosphorylation, acetylation, and alternative splicing in lymphoblastoid cells. (2013) (5)
- An ANKRD26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome) (2018) (5)
- VikNGS: a C++ variant integration kit for next generation sequencing association analysis (2018) (5)
- A Distributed Whole Genome Sequencing Benchmark Study (2020) (5)
- Deletion of Loss-of-Function-Intolerant Genes and Risk of 5 Psychiatric Disorders. (2021) (5)
- Autism and related neurodevelopmental disorders: the many genes involved (2014) (5)
- Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong (2007) (5)
- CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD. (2022) (5)
- Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood (2018) (5)
- Discovery of genomic variation across a generation (2021) (5)
- Association between distress and knowledge among parents of autistic children (2019) (5)
- Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus (2015) (5)
- The Genetics of a Novel Form of Lafora Disease (2010) (5)
- Formation of de novo centromeres and construction of first-generation human artificial microchromosomes, Harrington J.J., in: Nat. Genet., 15. (1997), 345 (1997) (5)
- Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy (2019) (5)
- Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges (2021) (5)
- Frequent Amplification of a chr19q13.41 MicroRNA Polycistron in Aggressive Primitive Neuroectodermal Brain Tumors (DOI: 10.1016/j.ccr.2009.10.025) (2010) (5)
- Generation and chromosome mapping of expressed sequence tags (ESTs) from a human infant thymus. (1999) (5)
- Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees (2020) (5)
- FARP‐1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family (2020) (5)
- Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders (2019) (5)
- A human Chromosome 7-specific genomic DNA library in yeast artificial chromosomes (2004) (5)
- Sequence variants within exon 1 of MECP2 occur in females with mental retardation. Am J Medical Genetics Part B (Neuropsychiatric Genetic) 144B:355–360 (2007) (2007) (5)
- Chromosome 7q31 allelic imbalance and somatic mutations of RAY1/ST7 gene in colorectal cancer. (2004) (4)
- Faculty Opinions recommendation of Association between microdeletion and microduplication at 16p11.2 and autism. (2008) (4)
- Discovery of the human genome sequence in the public and private databases (2001) (4)
- Localization of the gene encoding the alpha 2/delta subunit (CACNL2A) of the human skeletal muscle voltage-dependent Ca2+ channel to chromosome 7q21-q22 by somatic cell hybrid analysis. (1994) (4)
- 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 (1997) (4)
- Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype (2017) (4)
- Calendar of Events: 1991 — 1992 (1991) (4)
- Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay (2018) (4)
- An Epigenetically Distinct Subset of Children With Autism Spectrum Disorder Resulting From Differences in Blood Cell Composition (2021) (4)
- The mouse genome sequence - the end of the tail, or just the beginning? (2003) (4)
- A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder (2021) (4)
- Genomics is the medium for 21st century biology. (2012) (4)
- Whole genome sequencing delineates regulatory and novel genic variants in childhood cardiomyopathy (2020) (4)
- The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD (2016) (4)
- Regionally defined proteomic profiles of human cerebral tissue and organoids reveal conserved molecular modules of neurodevelopment. (2022) (3)
- Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation (2018) (3)
- Genome and Transcriptome Assembly of the Canadian Beaver ( ). (2017) (3)
- Discrimination of SNPs in GC-rich regions using a modified hydrolysis probe chemistry protocol. (2014) (3)
- Mapping of the human Lunatic Fringe (LFNG) gene to 7p22 and Manic Fringe (MFNG) to 22q12. (1998) (3)
- Erratum: Colorectal carcinomas in mice lacking the catalytic subunit of PI(3)Kγ (Nature (2000) 406 (897-902)) (2003) (3)
- Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay (2022) (3)
- ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome (2022) (3)
- Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) (2016) (3)
- Stranger , Variation on Gene Expression Phenotypes Relative Impact of Nucleotide and Copy Number (2007) (3)
- Molecular Characterization of Distinct Hot Spot Regions on Chromosome 7q in Myeloid Leukemias. (2006) (3)
- Ancestry and frequency of genetic variants in the general population are confounders in the characterization of germline variants linked to cancer (2020) (3)
- Genomic medicine goes mainstream (2016) (3)
- Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency (2022) (3)
- Mutational Landscape of Autism Spectrum Disorder Brain Tissue (2022) (3)
- Bone Marrow Failure and Developmental Delay Caused By Mutations in Poly(A)-Specific Ribonuclease (2015) (3)
- Adaptation and validation of the Genetic Counseling Outcome Scale for autism spectrum disorders and related conditions (2020) (3)
- Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) (2016) (3)
- Refining critical regions in 15q24 microdeletion syndrome pertaining to autism (2020) (3)
- Common Genetic Variation and Age of Onset of Anorexia Nervosa (2021) (3)
- Analysis of five deep-sequenced trio-genomes of the Peninsular Malaysia Orang Asli and North Borneo populations (2019) (3)
- Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels (2019) (3)
- Variation on Gene Expression Phenotypes Relative Impact of Nucleotide and Copy (2007) (2)
- Genomics and Pediatric Research (2003) (2)
- Frontiers in pediatric health technology assessment: Development of a discrete event simulation model for economic evaluation of screening, diagnosis and treatment strategies in autism spectrum disorder (2014) (2)
- Faculty Opinions recommendation of Shank3 mutant mice display autistic-like behaviours and striatal dysfunction. (2011) (2)
- Genomic variation in a global village: Report of the 10th annual Human Genome Variation Meeting 2008 (2009) (2)
- Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage (2017) (2)
- Improving imputation in disease-relevant regions: lessons from cystic fibrosis (2018) (2)
- The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis (2001) (2)
- Disruption of the autism-associated gene SCN2A alters synaptic development and neuronal signaling in patient iPSC-glutamatergic neurons (2021) (2)
- Blue whale (Balaenoptera musculus musculus) genome: population structure and history in the North Atlantic (2021) (2)
- Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes (2017) (2)
- Susumu Ohno left us January 13, 2000, at the age of 71 (2000) (2)
- Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots (2018) (2)
- Cracking the Genome: Inside the Race to Unlock Human DNA (2001) (2)
- Homozygous duplication identified by whole genome sequencing causes LRBA deficiency (2021) (2)
- Building Trust in 21 st Century Genomics (2013) (2)
- Chorea-acanthocytosis (2018) (2)
- Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies (2022) (2)
- Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila (2022) (2)
- Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder (2021) (2)
- Application Domains: The Human Genome Project (2007) (1)
- Corrigendum to “The hyaluronidase gene HYAL1 maps to chromosome 3p21.2–p21.3 in human and 9F1–F2 in mouse, a conserved candidate tumor suppressor locus” [Genomics 48 (1998) 63–70] (2004) (1)
- Biomarkers for autism spectrum disorders (2016) (1)
- Cloning of a DSS1 pseudogene (DSS1P1) and mapping to human Chromosome band 5ql4 (1997) (1)
- Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy (2022) (1)
- Copy Number Variation in Autism Spectrum Disorders (2013) (1)
- Faculty Opinions recommendation of Epigenetic differences arise during the lifetime of monozygotic twins. (2005) (1)
- Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot. (2021) (1)
- MG-132 Diagnostic utility of whole genome sequencing in paediatric medicine (2015) (1)
- Erratum: Expression and mutation status of candidate kinases in multiple myeloma (Leukemia (2007) vol. 21 (1124-1127) 10.1038/sj.leu.2404612) (2008) (1)
- Rare copy number variation in posttraumatic stress disorder (2022) (1)
- Physical and transcription map of a 25 Mb region on human chromosome 7 (region q21-q22) (1994) (1)
- Expression andRegulation ofGlucoamylase fromtheYeast Schwanniomyces castelliit (1990) (1)
- A panel of radiation hybrids defining the 7q31-q32 region of human chromosome 7. (1996) (1)
- Chromosomal-level reference genome assembly of the North American wolverine (Gulo gulo luscus): a resource for conservation genomics (2022) (1)
- The Third International Genomic Medicine Conference (3rd IGMC, 2015): overall activities and outcome highlights (2016) (1)
- Sequencing the Multiple Myeloma Kinome: Absence of Mutation in Known Malignancy-Associated Kinases. (2004) (1)
- Location, location, location: protein truncating variants in different loci of SRCAP cause three distinct neurodevelopmental disorders, associated with distinctive DNA methylation signatures (2020) (1)
- HLXB9 (MNX1), Sacral Agenesis, and the Currarino Syndrome (2016) (1)
- ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data (2020) (1)
- Identification of Novel, Replicable Genetic Risk Loci for Suicidal Thoughts and Behaviors Among US Military Veterans. (2022) (1)
- Complex Autism Spectrum Disorder with Epilepsy, Strabismus and Self-Injurious Behaviors in a Patient with a De Novo Heterozygous POLR2A Variant (2022) (1)
- GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation (2020) (1)
- Whole Genome Sequencing in Autism (2019) (1)
- IDENTIFICATION AND CHARACTERIZATION OF GENES SPANNING TRANSLOCATION BREAKPOINTS ON CHROMOSOME 7q31 IN TWO PATIENTS WITH AUTISTIC DISORDER (2000) (1)
- Adult expression of a 3q13.31 microdeletion (2014) (1)
- Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype (2021) (1)
- Developmental implications of genetic testing for physical indications (2022) (1)
- Pharmacogenetic profiling via genome sequencing in children with medical complexity (2022) (1)
- Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis (1996) (1)
- Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications. (2022) (1)
- Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder (2022) (1)
- Copy number variation (2009) (1)
- Predictors of empowerment in parents of children with autism and related neurodevelopmental disorders who are undergoing genetic testing (2021) (1)
- Abstract 11013: Remote Ischemic Preconditioning in Children Undergoing Surgery with Cardiopulmonary Bypass: A Single Centre Double-Blinded Randomized Trial (2011) (1)
- Individualized medicine enabled by genomics in Saudi Arabia (2015) (1)
- Genome-wide detection of tandem DNA repeats that are expanded in autism (2020) (1)
- High resolution genomic analyses of a clinically defined autism spectrum disorder cohort (2015) (1)
- Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot (2018) (1)
- Control iPSC lines with clinically annotated genetic variants for versatile multi-lineage differentiation (2019) (1)
- Performance of case-control rare copy number variation annotation in classification of autism (2015) (1)
- A Regional Burden of Sequence-Level Variation in the 22q11.2 Region Influences Schizophrenia Risk and Educational Attainment (2021) (1)
- Autism Spectrum Disorder (2018) (1)
- CLN6 Mutations Cause Teenage-Onset Progressive Myoclonus Epilepsy (P2.183) (2014) (0)
- Identification of germline genomic copy number variation in familial pancreatic cancer (2012) (0)
- Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families (2014) (0)
- Fluorescent in situ mapping of the murine deleted in split hand/split foot 1 (dss1) gene to Chromosome 6 (1997) (0)
- PTCHD3 is a non-essential gene in humans: Breakpoint mapping and population frequency of a rare deletion variant (2010) (0)
- Genome-wide copy number variant data for inflammatory bowel disease in a caucasian population (2019) (0)
- Erratum: Touching Base (2004) (0)
- Copy Number Variants Underlying Inherited Bone Marrow Failure Syndromes (2015) (0)
- 46% of individuals with ASD that harbour de novo CNVs have at least one de novo CNV that overlaps a gene associated with synaptic signalling (2010) (0)
- 30.4 Exploring Genetic Variation in ADHD Quantitative Traits and Executive Function Endophenotypes Using Rare Copy Number Variants (2018) (0)
- Genome Variation Influencing Gene Copy Number and Disease (2005) (0)
- Proof of Extensive Copy Number Variation in The Human Genome (2014) (0)
- Title Page / Table of Contents / Abstracts (1991) (0)
- Clustering of human chromosome fragments on the mouse genome by chromosome-mediated gene transfer. (1998) (0)
- Dysregulation of miRNAs and genes in Autism Spectrum Disorder (2008) (0)
- Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder (2020) (0)
- Abstract 4350: Clonal selection and parallel evolution during leptomeningeal dissemination of human and mouse medulloblastoma result in bicompartmental disease (2010) (0)
- Single cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss of function mutation genes regulating glial cells (2021) (0)
- Episodic weakness, cerebellar ataxia, deafness and optic atrophy - a new phenotype of a novel ATP1A3 mutation (2014) (0)
- Subject Index Vol. 87, 1999 (2000) (0)
- Heterogeneity in clinical sequencing tests marketed for autism spectrum disorders (2018) (0)
- Subject Index Vol. 56, 1991 (1991) (0)
- The Kruppel-like factor 4 (KLF4) tumor suppressor gene is silenced by genetic and epigenetic mechanisms in medulloblastoma (2007) (0)
- Subject Index Vol. 88, 2000 (2000) (0)
- Erratum: A genotype resource for postmortem brain samples from the Autism Tissue Program (2011) (0)
- Contents Vol. 88, 2000 (2000) (0)
- The Third International Genomic Medicine Conference (3rd IGMC, 2015): overall activities and outcome highlights (2016) (0)
- Erratum: A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome (2004) (0)
- Two leading researchers discuss the value of oddball data (2010) (0)
- Copy Number Variant Analysis Of Psychiatric Traits In A Community-Based Pediatric Sample (2017) (0)
- Inherited duplications of PPP2R3B promote naevi and melanoma via a novel C21orf91-driven proliferative phenotype (2019) (0)
- Reply to Zlotogora. (1995) (0)
- Project: another step closer: An STS-based map of the human genome (1996) (0)
- Contents Vol. 115, 2006 (2006) (0)
- Faculty Opinions recommendation of In vivo enhancer analysis of human conserved non-coding sequences. (2006) (0)
- The Autism Speaks Mssng Whole Genome Sequencing Precision Medicine Resource (2019) (0)
- Canadian Association of Neuropathologists Abstracts of papers and cases presented at the 40th Annual Meeting (2000) (0)
- Cloning of a DSS1 pseudogene (DSS1P1) and mapping to human chromosome band 5q14. (1997) (0)
- MG-108 Beyond the ACMG 56: Parental choices and initial results from a comprehensive whole genome sequencing-based search for predictive genomic variants in children (2015) (0)
- Mutation Screening of the 3’-UTR of SHANK3 in Autism Spectrum Disorder (2008) (0)
- Contents, Vol. 56, 1991 (2004) (0)
- The Nosology of Attention Deficit Hyperactive Disorder in Autism (2009) (0)
- Matching drug transcriptional signatures to rare losses disrupting synaptic gene networks identifies known and novel candidate drugs for schizophrenia (2018) (0)
- Revised guidelines for authors of gene mapping reports (2000) (0)
- The Genomic Clinic for Pediatric and Prenatal Diagnosis: Promise, Challenges, and Reality (2016) (0)
- Lay abstracts (2009) (0)
- New HLBX9 mutations in Currarino patients (2004) (0)
- Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells (2021) (0)
- Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa (2019) (0)
- Identification of candidate intergenic risk loci in autism spectrum disorder (2013) (0)
- 141 Molecular definition of two narrow interval at 7q22.1 and 7Q34 associated with myelodysplasia (1997) (0)
- List of Tissue Specific Critical Exons (2014) (0)
- MG-123 Exonic and intronic NRXN1 deletions: Novel genotype-phenotype correlations (2015) (0)
- Wednesday 2 May 2007 (2007) (0)
- A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature (2023) (0)
- Autism and related neurodevelopmental disorders: the many genes involved (2014) (0)
- Contents Vol. 153, 2017 (2018) (0)
- Genome-wide association study of emotional empathy in children (2020) (0)
- HGV2012: Leveraging Next‐Generation Technology and Large Datasets to Advance Disease Research (2013) (0)
- Abstract 2506: Exploring the complex etiology of oncogenic fusions in childhood cancer (2019) (0)
- The effect of Large de novo chromosomal deletions on gene expression (2009) (0)
- Manuscript Word Count: Abstract: 193; Text, with citations, without references: 3921 Number of Tables: 2; Supplemental Files: Yes Whole-genome sequencing suggests schizophrenia risk mechanisms in humans with 22q11.2 deletion syndrome (2015) (0)
- Symposium S17: New Discoveries in the Genetics of Human Epilepsy (2004) (0)
- Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome (2022) (0)
- SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing (2022) (0)
- Faculty Opinions recommendation of Distribution, silencing potential and evolutionary impact of promoter DNA methylation in the human genome. (2007) (0)
- De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome (2018) (0)
- Molecular and clinical characterization of de novo and familial cases with microduplication 3q29 (2016) (0)
- Combined De-Novo Mutation and Non-Random X-Chromosome Inactivation Causing Wiskott-Aldrich Syndrome in a Female with Thrombocytopenia (2013) (0)
- Analysis of Genomic Copy Number Variation Across Psychiatric Disorders (2021) (0)
- Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy (2015) (0)
- Faculty Opinions recommendation of A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export. (2009) (0)
- Clonal Evolution Predicts Poor Prognosis in Chronic Lymphocytic Leukaemia and Is As Significant A Marker of Poor Prognosis as High Risk Cytogenetic Markers 17 p-and 11 q-: A Population Based Cohort study of FISH Testing in British Columbia , Canada (2015) (0)
- Author's response to reviews Title: Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C Authors: (2012) (0)
- ExpansionHunter Denovo: a suite of tools for detecting novel expansions of short tandem repeats (2020) (0)
- Contents Vol. 87, 1999 (2000) (0)
- A novel pancreatic cancer genetic susceptibility factor (2005) (0)
- Contents Vol. 123, 2008 (2009) (0)
- Temporal analysis of enhancers during mouse cerebellar development reveals dynamic and novel regulatory functions (2022) (0)
- The meetingsGenome analysis (1995) (0)
- TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations (2013) (0)
- Chromosome-wide discovery of imprinted and differentially expressed genes for disease study. (2002) (0)
- Title De novo large rare copy-number variations contribute toconotruncal heart disease in Chinese patients (2016) (0)
- GENOMIC ARCHITECTURE OF TETRALOGY OF FALLOT AND GENOMIC PREDICTORS OF ADVERSE RIGHT VENTRICULAR REMODELLING (2018) (0)
- The population genomic landscape of human genetic structure, admixture history and local adaptation in Peninsular Malaysia (2014) (0)
- Genome analysis. (1995) (0)
- FUNCTIONAL VALIDATION OF NON-CODING REGULATORY VARIANTS ASSOCIATED WITH CHILDHOOD CARDIOMYOPATHY (2021) (0)
- O IX.2 Molecular cloning and functional characterization of the human XRCC2 DNA repair gene (1997) (0)
- 34. A GENOME-WIDE ASSOCIATION STUDY OF COPY NUMBER VARIATION ACROSS MAJOR PSYCHIATRIC DISORDERS IN 500,000 INDIVIDUALS (2022) (0)
- Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons (2023) (0)
- The clinical impact of copy number variants in inherited bone marrow failure syndromes (2017) (0)
- Conserved Proteomic Programs Between Human Cerebral Tissue and Organoids Implicate RUVBL2 in Neurodevelopment and Disease (2021) (0)
- Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes (2014) (0)
- Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications Short SCN8A -related genotype-phenotype correlations (2021) (0)
- Quality of life drives patients’ preferences for secondary findings from genomic sequencing (2020) (0)
- Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation (2016) (0)
- Germline PTPN13 mutations in patients with bone marrow failure and acute lymphoblastic leukemia (2022) (0)
- SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons (2019) (0)
- A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder (2021) (0)
- Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity (2018) (0)
- Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease (2020) (0)
- Title Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving (2017) (0)
- Abstract #5686: Clonal selection and parallel evolution define the hierachical structure of metastatic medulloblastoma (2009) (0)
- Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome (2015) (0)
- Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh (2021) (0)
- Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders (2017) (0)
- Profile of children with cerebral palsy and congenital malformations in canada (2017) (0)
- Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders (2019) (0)
- 51. An Emerging Landscape of Genomic Regions Where an Excess of Low Frequency Sequence Variants and Pathogenic CNVs are Associated With ASD and Schizophrenia Risk (2023) (0)
- Temporal analysis of enhancers during mouse brain development reveals dynamic regulatory function and identifies novel regulators of cerebellar development (2021) (0)
- INTERACTIONS OF RARE CNVS WITH POLYGENIC RISK SCORES IN PSYCHIATRIC DISORDERS AND QUANTITATIVE TRAITS (2022) (0)
- Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia (2017) (0)
- Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies (2022) (0)
- Gene copy number variation in pediatric mental illness in a general population (2022) (0)
- Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling (2017) (0)
- Uddin M, Woodbury-Smith M, Chan A, Albanna A, Minassian B, Boelman C, Scherer S. Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots. G3: Genes, Genomes, Genetics (2018) (2018) (0)
- Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay (2022) (0)
- Homozygous duplication identified by whole genome sequencing causes LRBA deficiency (2021) (0)
- Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy (2022) (0)
- Spit For Science: Using Kids From The Community To Uncover The Genomics of Childhood Psychiatric Disorders (2019) (0)
- Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants (2019) (0)
- Copy number variation in Han Chinese individuals with autism spectrum disorder (2014) (0)
- Correction: Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease (2013) (0)
- A large data resource of genomic copy number variation across neurodevelopmental disorders (2019) (0)
- 11. ANALYSIS OF GENOMIC COPY NUMBER VARIATION AND THEIR INTERACTION WITH POLYGENIC RISK SCORES ACROSS PSYCHIATRIC DISORDERS (2021) (0)
- Abstract B09: DNA polymerase mutations trigger rapid onset of ultra-hypermutant malignant brain tumors in children with biallelic mismatch repair deficiency (2015) (0)
- Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial (2019) (0)
- The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease (2020) (0)
- SA6 COPY NUMBER VARIANTS IN BRAIN-RELATED GENES ARE ASSOCIATED WITH NEUROPSYCHIATRIC TRAITS IN CHILDHOOD (2019) (0)
- A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees (2018) (0)
- Cover Image, Volume 173A, Number 2, February 2017. (2017) (0)
- Newborn screening by whole genome sequencing? Not quite yet. (2019) (0)
- MP30-09 ARE COMPLETE AZFc DUPLICATIONS ASSOCIATED WITH SPERMATOGENIC POTENTIAL? THE FIRST REPORTED SERIES (2023) (0)
- A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder (2011) (0)
- Molecular Genetics of Disease and the Human Genome Project (2003) (0)
- DNA Methylation of the Oxytocin Receptor Across Neurodevelopmental Disorders (2021) (0)
- GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation (2022) (0)
- Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage (2017) (0)
- Epm2b gene mutations associated with lafora's disease (2004) (0)
- Characterization of Large Copy Number Variation in Mexican Type 2 Diabetes subjects (2017) (0)
- A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling (2017) (0)
- Candidate genes and biological processes in de novo CNVs from autistic individuals (2010) (0)
- Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing (2018) (0)
- Genome-Wide Association Studies: Forewords (2016) (0)
- Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study (2017) (0)
- HGV2009 meeting: bigger and better studies provide more answers and more questions (2010) (0)
- The 36th American Cytogenetics Conference (2000) (0)
- Genome-Wide Analysis of Large Rare Copy Number Variations in Alzheimer Disease Among Caribbean Hispanics (2011) (0)
- Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome (2020) (0)
- Faculty Opinions recommendation of Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene? (2010) (0)
- Autism Sequencing Consortium (ASC) iPSYCH-BROAD Consortium Broad Institute Center for Common Disease Genomics (Broad-CCDG) (2021) (0)
- Faculty Opinions recommendation of Large-scale copy number polymorphism in the human genome. (2004) (0)
- The Contribution of Frameshift Translation to the Generation of Novel Human Proteins (2007) (0)
- Epigenomics and Genomics (2008) (0)
- Faculty Opinions recommendation of Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion. (2004) (0)
- MICRORNAS AND GENETIC RISK FOR TETRALOGY OF FALLOT (2015) (0)
- Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C (2013) (0)
- Parents’ Perspectives on Participating in Genetic Research in Autism (2012) (0)
- Analysis of five deep-sequenced trio-genomes of the Peninsular Malaysia Orang Asli and North Borneo populations (2019) (0)
- Contemplating effects of genomic structural (2008) (0)
- CONTRIBUTION OF DNA COPY-NUMBER VARIATION (CNV) TO CANCER SUSCEPTIBILITY AND LARGE-SCALE GENOME ALTERATIONS IN OSTEOSARCOMA (OS) (2008) (0)
- Carboxypeptidase A5: an imprinted member of the CPA gene family. (2002) (0)
- Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray (2017) (0)
- Human ehrlichiosis in Thailand (1997) (0)
- 765 Molecular Cloning, Genomic Structure, Mapping and Mutational Analysis of Human Suppressor of Fused (hSu[fu]), a Candidate Tumor Suppressor Gene for Medulloblastoma/PNET on Chromosome 10q24.3 (2000) (0)
- CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems (2014) (0)
- New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome (2019) (0)
- Whole Genome Sequencing in Autism: Clinical Translation (2014) (0)
- Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing (0)
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