M. Napier

发表

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network

John J. Mitchell, J. Little, K. Wilson, 2020, Orphanet Journal of Rare Diseases.

Pitfalls in Genetic Testing for Consanguineous Pediatric Populations

C. A. Rupar, C. Prasad, A. Prasad, 2022, Case reports in genetics.

Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants

S. Yip, A. Lehman, K. Keppler-Noreuil, 2021, American journal of medical genetics. Part A.

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Carol J. Saunders, E. Zackai, G. Cooper, 2020, European Journal of Human Genetics.

Gene therapy: perspectives from young adults with Leber’s congenital amaurosis

D. Chitayat, C. Shuman, R. Hayeems, 2021, Eye.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Beth K. Martin, Martin, J. Shendure, 2016, JCI insight.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

J. Shendure, Martin Kircher, K. Devriendt, 2016, JCI insight.

Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).

Maria D. Karaceper, P. Chakraborty, O. Al-Dirbashi, 2015, Molecular genetics and metabolism.

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.

I. Krantz, A. Beaudet, C. Schwartz, 2019, American journal of human genetics.

BCL11B-related disorder in two canadian children: Expanding the clinical phenotype.

M. Prasad, C. Prasad, M. Jurkiewicz, 2020, European journal of medical genetics.

Growth hormone deficiency in megalencephaly‐capillary malformation syndrome: An association with activating mutations in PIK3CA

M. Deardorff, G. Mirzaa, C. Prasad, 2019, American journal of medical genetics. Part A.

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.

A. Reymond, R. Myers, G. Cooper, 2022, American journal of human genetics.

Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolism

B. Potter, C. Prasad, A. Prasad, 2020, Molecular genetics and metabolism reports.

The phenotypic spectrum of AMER1‐related osteopathia striata with cranial sclerosis: The first Canadian cohort

D. Chitayat, H. Faghfoury, Roberto Mendoza, 2021, American journal of medical genetics. Part A.

Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer.

C. A. Rupar, C. Prasad, M. Napier, 2017, Clinical dysmorphology.

Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario.

V. Siu, O. Al-Dirbashi, C. A. Rupar, 2015, JIMD reports.