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 · 147 citations · Full text

Medicine, Genetics, Molecular Genetics +10

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 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Clinical whole-exome sequencing: are we there yet?

Paldeep S. Atwal, Marie-Louise Brennan, Rachel Cox et al. · Genetics in Medicine · 2014 · 67 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

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 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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 · 38 citations

Medicine, Biochemistry, Pediatrics +16