Hannaneh Faghfoury

发表

Angelman Syndrome Due to a Termination Codon Mutation of the UBE3A Gene

R. Mendoza-Londono, J. Machado, L. Dupuis, 2013, Journal of child neurology.

Massive CAG repeat expansion and somatic instability in maternally transmitted infantile spinocerebellar ataxia type 7.

C. Hawkins, C. E. Pearson, Heather P Trang, 2015, JAMA neurology.

Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.

Y. Chien, W. Hwu, F. Corrales, 2010, Molecular genetics and metabolism.

Genome screening, reporting, and genetic counseling for healthy populations

Matthew S. Lebo, Trevor J Pugh, A. Gingras, 2022, Human Genetics.

Transient fulminant liver failure as an initial presentation in citrullinemia type I.

A. Schulze, J. Häberle, H. D. de Baulny, 2011, Molecular genetics and metabolism.

A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C

V. Ng, P. Gissen, S. Santra, 2021, Children.

Late-onset ornithine transcarbamylase deficiency presenting with asymptomatic liver dysfunction.

V. Ng, E. Cutz, J. Raiman, 2012, Journal of pediatric gastroenterology and nutrition.

Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening.

D. Bulman, P. Chakraborty, A. Lamhonwah, 2019, Molecular genetics and metabolism.

A second update on mapping the human genetic architecture of COVID-19

M. A. Hakim Newton, Jack D. Sanders, Jonathan H. Morgan, 2022, Nature.