Stephen W. Scherer généticien et génomiste canadien
Scherer, Stephen W.
Scherer, Stephen W. (1964- ).
Scherer, Stephen W. (Stephen Wayne), 1964-
Stephen W. Scherer
Scherer, Stephen W., 19..-....., spécialiste de la génomique
VIAF ID: 111149616626503752643 (Personal)
Permalink: http://viaf.org/viaf/111149616626503752643
Preferred Forms
- 100 1 _ ‡a Scherer, Stephen W.
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- 100 1 _ ‡a Scherer, Stephen W., ‡d 19..-....., ‡c spécialiste de la génomique
- 100 0 _ ‡a Stephen W. Scherer
- 100 0 _ ‡a Stephen W. Scherer ‡c généticien et génomiste canadien
4xx's: Alternate Name Forms (10)
Works
Title | Sources |
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Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome | |
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus | |
Expanded repeat in canine epilepsy | |
Expanding the neurodevelopmental phenotypes of individuals with de novo variants | |
Expression analysis of six paralogous human hyaluronidase genes clustered on chromosomes 3p21 and 7q31 | |
Expression and mutation status of candidate kinases in multiple myeloma | |
Failure of a medulloblastoma-derived mutant of SUFU to suppress WNT signaling | |
Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype | |
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project | |
A framework for an evidence-based gene list relevant to autism spectrum disorder | |
Frequent appearance of novel protein-coding sequences by frameshift translation | |
Functional and chromosomal clustering of genes responsive to 5-bromodeoxyuridine in human cells | |
Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants | |
Functional impact of global rare copy number variation in autism spectrum disorders | |
Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. | |
GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome | |
Gene and miRNA expression profiles in autism spectrum disorders | |
Genescript: DNA sequence annotation pipeline. | |
GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation | |
Genetic analysis of patients with the Saethre-Chotzen phenotype. | |
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders | |
Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications | |
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization | |
Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22 | |
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs | |
Genetic variation at the ACE gene is associated with persistent microalbuminuria and severe nephropathy in type 1 diabetes: the DCCT/EDIC Genetics Study | |
Genome assembly comparison identifies structural variants in the human genome. | |
Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study | |
Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3. | |
Genome-wide association studies, 2016: | |
Genome-wide characteristics of de novo mutations in autism | |
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3 | |
Genome-wide copy number variant data for inflammatory bowel disease in a caucasian population | |
Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays | |
Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence | |
Genome-wide detection of tandem DNA repeats that are expanded in autism | |
A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees. | |
Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries | |
A genome-wide scan for common alleles affecting risk for autism | |
Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics | |
Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS) | |
Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots. | |
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. | |
Genomic medicine goes mainstream | |
Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue. | |
Genomic variation in a global village: report of the 10th annual Human Genome Variation Meeting 2008. | |
Genomics and pediatric research | |
Genomics is the medium for 21st century biology | |
Germ-line DNA copy number variation frequencies in a large North American population | |
Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes | |
Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency | |
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in | |
Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome | |
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot | |
Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome | |
Heterogeneity in clinical sequencing tests marketed for autism spectrum disorders | |
Heterogeneity of the 7q36 breakpoints in the t(7;12) involving ETV6 in infant leukemia. | |
HGV2009 meeting: bigger and better studies provide more answers and more questions | |
HGV2012: leveraging next-generation technology and large datasets to advance disease research | |
A high-resolution copy-number variation resource for clinical and population genetics | |
Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity | |
HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis | |
HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia. | |
Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature. | |
Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency | |
Hotspots for copy number variation in chimpanzees and humans | |
An nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome) | |
A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes | |
De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy | |
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. | |
De Novo Genome and Transcriptome Assembly of the Canadian Beaver (Castor canadensis) | |
De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients | |
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome | |
De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay. | |
De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder | |
Physical mapping of human chromosome 7 with yeast artificial chromosomes. | |
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome | |
A role for common fragile site induction in amplification of human oncogenes | |
Thompson & Thompson genetics and genomics in medicine | |
A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints |