A. Rideout

发表

Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.

M. Dubé, M. Matsuoka, S. Evans, 2009, American journal of human genetics.

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

M. Fleming, M. Matsuoka, S. Evans, 2009, Nature Genetics.

Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients

J. Rosenfeld, B. Torchia, L. Shaffer, 2014, American journal of medical genetics. Part A.

Genetics and Precision Medicine: Heritable Thoracic Aortic Disease.

M. Pariani, A. Rideout, Madeline Graf, 2019, The Medical clinics of North America.

Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

P. Awadalla, M. Matsuoka, S. Evans, 2010, American journal of human genetics.

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.

R. Wevers, S. Gospe, P. Clayton, 2012, American journal of human genetics.

Germline Mutations in MAP3K6 Are Associated with Familial Gastric Cancer

Marissa A. LeBlanc, D. Huntsman, Weei‐Yuarn Huang, 2014, PLoS genetics.

Genetic education for primary care providers

W. Meschino, C. Shuman, A. Summers, 2009 .

Performance of Black and Indigenous applicants in a medical school admissions process

A. Rideout, Katherine A. Girgulis, M. Rashid, 2021, Canadian medical education journal.

SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium

S. Leal, D. Milewicz, D. Guo, 2019, Journal of Medical Genetics.

A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1.

A. Vandersteen, U. Schwarze, J. Beis, 2020, European journal of medical genetics.

Interactive Genetic Counseling Role-Play: A Novel Educational Strategy for Family Physicians

W. Meschino, G. Glendon, C. Shuman, 2008, Journal of Genetic Counseling.

Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium

Z. Cohen, B. Campbell, S. Gallinger, 2016, The American Journal of Gastroenterology.

Grange syndrome due to homozygous YY1AP1 missense rare variants

D. Milewicz, D. Guo, A. Rideout, 2019, American journal of medical genetics. Part A.

Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changes.

W. Meschino, C. Shuman, M. Esplen, 2013, Canadian family physician Medecin de famille canadien.

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

Haiyan Jiang, Mark E Samuels, Makoto Matsuoka, 2011, Nature Genetics.

Novel mutations in the sacsin gene in ataxia patients from Maritime Canada

D. Guernsey, S. Evans, M. Samuels, 2010, Journal of the Neurological Sciences.

Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease

T. Benstead, M. Matsuoka, S. Evans, 2010, PLoS genetics.

A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix.

B. Callewaert, A. Vandersteen, A. Rideout, 2019, Matrix biology : journal of the International Society for Matrix Biology.

A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3

S. Mehta, J. Roos‐Hesselink, M. Kempers, 2018, Human mutation.

Genetic education for primary care providers: improving attitudes, knowledge, and confidence.

Fiona Miller, Jennifer MacKenzie, W. Meschino, 2009, Canadian family physician Medecin de famille canadien.

Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy

D. Nickerson, M. Bamshad, D. Milewicz, 2021, Neurology.

Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia.

N. Samani, L. Mazzolai, A. Maas, 2020, Circulation.

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

R. Wevers, S. Gospe, P. Clayton, 2016, American journal of human genetics.

18th annual meeting: Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA-ICC)

B. Campbell, S. Gallinger, M. Kalady, 2014, Familial Cancer.

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

C. Cytrynbaum, C. Marshall, A. Noor, 2015, Clinical genetics.

Atypical Neuropsychiatric Presentation of FTD-ALS Caused by a Pathogenic Repeat Expansion in C9orf72: A Case Report

A. Rideout, S. Dyack, M. LeBlanc, 2023, Journal of geriatric psychiatry and neurology.