Artículos con órdenes de acceso público - Christian R. MarshallMás información
No disponibles en ningún lugar: 23
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Whole-genome sequencing of quartet families with autism spectrum disorder
RKC Yuen, B Thiruvahindrapuram, D Merico, S Walker, K Tammimies, ...
Nature medicine 21 (2), 185-191, 2015
Órdenes: Canadian Institutes of Health Research, Genome Canada, Swedish Research …
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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
Órdenes: Canadian Institutes of Health Research, Genome Canada, Wellcome Trust
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De novo WNT5A‐associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype
M Roifman, CLM Marcelis, T Paton, C Marshall, R Silver, JL Lohr, ...
Clinical genetics 87 (1), 34-41, 2015
Órdenes: Canadian Institutes of Health Research, Genome Canada
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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
Órdenes: Canadian Institutes of Health Research, Genome Canada
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Lethal disorder of mitochondrial fission caused by mutations in DNM1L
G Yoon, Z Malam, T Paton, CR Marshall, E Hyatt, Z Ivakine, SW Scherer, ...
The Journal of pediatrics 171, 313-316. e2, 2016
Órdenes: Canadian Institutes of Health Research, Genome Canada
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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
Órdenes: Genome Canada
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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
Órdenes: Canadian Institutes of Health Research, Genome Canada
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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
Órdenes: Canadian Institutes of Health Research, Genome Canada
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Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene
CL DesRoches, J Patel, P Wang, B Minassian, GS Salomons, ...
Gene 565 (2), 187-191, 2015
Órdenes: US National Institutes of Health
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Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene
CL Desroches, J Patel, P Wang, B Minassian, CR Marshall, GS Salomons, ...
Molecular Genetics and Genomics 290, 2163-2171, 2015
Órdenes: US National Institutes of Health
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Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries
G Costain, AC Lionel, L Ogura, CR Marshall, SW Scherer, CK Silversides, ...
International Journal of Cardiology 204, 115-121, 2016
Órdenes: US National Institutes of Health, Canadian Institutes of Health Research …
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Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes
M Woodbury-Smith, AD Paterson, B Thiruvahindrapduram, AC Lionel, ...
Human genetics 134, 191-201, 2015
Órdenes: US National Institutes of Health, Canadian Institutes of Health Research …
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De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay
R Ejaz, AC Lionel, S Blaser, S Walker, SW Scherer, R Babul‐Hirji, ...
American Journal of Medical Genetics Part A 173 (10), 2725-2730, 2017
Órdenes: Canadian Institutes of Health Research
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Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions
AM Joseph-George, Y He, CR Marshall, RCC Wong, JR MacDonald, ...
Journal of medical genetics 48 (5), 317-322, 2011
Órdenes: Canadian Institutes of Health Research, Genome Canada
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MED23‐associated refractory epilepsy successfully treated with the ketogenic diet
AC Lionel, N Monfared, SW Scherer, CR Marshall, ...
American Journal of Medical Genetics Part A 170 (9), 2421-2425, 2016
Órdenes: US National Institutes of Health
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Clinical characteristics in patients with interstitial deletions of chromosome region 12q21–q22 and identification of a critical region associated with keratosis pilaris
A Al‐Maawali, CR Marshall, SW Scherer, L Dupuis, R Mendoza‐Londono, ...
American Journal of Medical Genetics Part A 164 (3), 796-800, 2014
Órdenes: Canadian Institutes of Health Research, Genome Canada
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Genome-wide sequencing identified rare genetic variants for childhood-onset monogenic lupus
MC Misztal, F Liao, M Couse, J Cao, D Dominguez, L Lau, CR Marshall, ...
The Journal of Rheumatology 50 (5), 671-675, 2023
Órdenes: Canadian Institutes of Health Research
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Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data
T Hartley, É Soubry, M Acker, M Osmond, M Couse, MK Gillespie, Y Ito, ...
Clinical genetics 103 (3), 288-300, 2023
Órdenes: Canadian Institutes of Health Research, Genome Canada, Natural Sciences and …
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Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay
K San Yeung, MSP Ho, SL Lee, ASY Kan, KYK Chan, MHY Tang, ...
Journal of Medical Genetics 55 (12), 847-852, 2018
Órdenes: Canadian Institutes of Health Research
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Long‐read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development
GF Del Gobbo, X Wang, M Couse, L Mackay, C Goldsmith, AE Marshall, ...
American Journal of Medical Genetics Part A 194 (5), e63522, 2024
Órdenes: Genome Canada
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