Yael Wilnai

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Seema R. Lalani, Pengfei Liu, Jill A. Rosenfeld et al. · The American Journal of Human Genetics · 2016 · 139 citations · Full text

Bi-allelic Tango2 Mutations, Cardiac Muscle, Cardiomyopathy +9

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Sarah E. Sheppard, Ian M. Campbell, Margaret Harr et al. · American Journal of Medical Genetics Part A · 2021 · 66 citations · Full text

Clinical whole-exome sequencing: are we there yet?

Paldeep S. Atwal, Marie-Louise Brennan, Rachel Cox et al. · Genetics in Medicine · 2014 · 65 citations · Full text

Long-read Sequencing, Sequencing, Medicine +8

The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to <i>CHST14</i> mutations

Andreas Janecke, Ben Li, Manfred Boehm et al. · American Journal of Medical Genetics Part A · 2015 · 62 citations · Full text

Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California

Natalie M. Gallant, Karen Leydiker, Yael Wilnai et al. · Molecular Genetics and Metabolism · 2017 · 36 citations

Newborn Screening, Neonatology, Carnitine Transporter Defect +8