Articles with public access mandates - Scherer, Stephen W.Learn more
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Review
Genetic architecture in autism spectrum disorder
B Devlin, SW Scherer
Current opinion in genetics & development, 2012
Mandates: US National Institutes of Health, Canadian Institutes of Health Research
Review
Whole-genome sequencing of quartet families with autism spectrum disorder.
RK Yuen, B Thiruvahindrapuram, D Merico, S Walker, K Tammimies, ...
Nature Medicine, 2015
Mandates: Canadian Institutes of Health Research, Genome Canada, Swedish Research …
Review
Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers
A Shlien, BB Campbell, R De Borja, LB Alexandrov, D Merico, D Wedge, ...
Nature genetics 47 (3), 257-262, 2015
Mandates: Canadian Institutes of Health Research, Cancer Research UK, Wellcome Trust
Review
The clinical context of copy number variation in the human genome
C Lee, SW Scherer
Expert Reviews in Molecular Medicine 12, e8, 2010
Mandates: US National Institutes of Health, Canadian Institutes of Health Research …
Review
Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome
S Dhanraj, A Matveev, H Li, S Lauhasurayotin, L Jardine, M Cada, ...
Blood 129 (11), 1557-1562, 2017
Mandates: Canadian Institutes of Health Research
Review
Risk factors for autism: translating genomic discoveries into diagnostics
SW Scherer, G Dawson
Human Genetics 130 (1), 123-148, 2011
Mandates: US National Institutes of Health, Canadian Institutes of Health Research …
Review
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families
G Egger, KM Roetzer, A Noor, AC Lionel, H Mahmood, T Schwarzbraun, ...
neurogenetics 15, 117-127, 2014
Mandates: Canadian Institutes of Health Research, Genome Canada, Wellcome Trust
Review
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome
SME Majewski J, Schwartzentruber JA, Caqueret A, Patry L, Marcadier J, Fryns ...
Human Mutation 32, 1114-1117, 2011
Mandates: Canadian Institutes of Health Research, Genome Canada
Review
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study
CRC Dyment DA, Tetreault M, Beaulieu CL, Hartley T, Ferreira P, Chardon JW ...
Clinical Genetics 88, 34-40, 2015
Mandates: Canadian Institutes of Health Research, Genome Canada
Review
Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes
A Noor, AC Lionel, S Cohen‐Woods, N Moghimi, J Rucker, A Fennell, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 165 …, 2014
Mandates: Canadian Institutes of Health Research
Review
Hemizygous deletions on chromosome 1p21. 3 involving the DPYD gene in individuals with autism spectrum disorder
MT Carter, SM Nikkel, BA Fernandez, CR Marshall, A Noor, AC Lionel, ...
Clinical Genetics 80 (5), 435-443, 2011
Mandates: Canadian Institutes of Health Research, Genome Canada
Review
Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L
CRD Yoon G, Malam Z, Paton T, Marshall CR, Hyatt E, Ivakine Z, Scherer SW ...
Journal of Pediatrics, 2016
Mandates: Canadian Institutes of Health Research, Genome Canada
Review
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder
SJ Mosca, LM Langevin, D Dewey, AM Innes, AC Lionel, CC Marshall, ...
Journal of medical genetics 53 (12), 812-819, 2016
Mandates: Canadian Institutes of Health Research
Review
Parents’ Perspectives on Participating in Genetic Research in Autism
M Trottier, W Roberts, I Drmic, SW Scherer, R Weksberg, C Cytrynbaum, ...
Journal of Autism and Developmental Disorders, 1-13, 2012
Mandates: Canadian Institutes of Health Research
Review
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy
BKM Dyment DA, Sell E, Vanstone MR, Smith AC, Garandeau D, Garcia V ...
Clinical Genetics 86, 558-563, 2014
Mandates: Canadian Institutes of Health Research, Genome Canada
Review
CAOS—Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss A Third Allelic Disorder of the ATP1A3 Gene
G Heimer, Y Sadaka, L Israelian, A Feiglin, A Ruggieri, CR Marshall, ...
Journal of child neurology 30 (13), 1749-1756, 2015
Mandates: Genome Canada
Review
Holoprosencephaly and cleidocranial dysplasia in a patient due to two position‐effect mutations: case report and review of the literature
BA Fernandez, J Siegel‐Bartelt, JAS Herbrick, I Teshima, SW Scherer
Clinical Genetics 68 (4), 349-359, 2005
Mandates: Genome Canada
Review
OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium
A Vincent, N Forster, JT Maynes, TA Paton, G Billingsley, NM Roslin, A Ali, ...
Journal of medical genetics 51 (12), 797-805, 2014
Mandates: Canadian Institutes of Health Research, Genome Canada
Review
Deletions in 16q24. 2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation
GR Handrigan, D Chitayat, AC Lionel, M Pinsk, AK Vaags, CR Marshall, ...
Journal of medical genetics 50 (3), 163-173, 2013
Mandates: Canadian Institutes of Health Research, Genome Canada
Review
A CGG‐Repeat Expansion Mutation in ZNF713 Causes FRA7A: Association with Autistic Spectrum Disorder in Two Families
S Metsu, JK Rainger, K Debacker, B Bernhard, L Rooms, ...
Human mutation 35 (11), 1295-1300, 2014
Mandates: Research Foundation (Flanders), UK Medical Research Council
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