Nitay Fraenkel

Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in <i>SLC25A1</i> encoding the mitochondrial citrate transporter

Simon Edvardson, Vito Porcelli, Chaim Jalas et al. · Journal of Medical Genetics · 2013 · 67 citations

Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy

Ruth Sheffer, Michal Gur, Rebecca Brooks et al. · European Journal of Human Genetics · 2019 · 34 citations · Full text

Molecular Neuroscience, Biallelic Variants, Medicine +11

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

Kyle Thompson, Homa Majd, Cristina Dallabona et al. · The American Journal of Human Genetics · 2016 · 31 citations · Full text

Genetics, Genetic Epidemiology, Molecular Biology +23

A homozygous deleterious <i>CDK10</i> mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness

Vincent J. Guen, Simon Edvardson, Nitay Fraenkel et al. · American Journal of Medical Genetics Part A · 2017 · 25 citations · Full text

Brief report: Use and misuse of thyroid ultrasound in the initial workup of patients with suspected thyroid problems referred by primary care physicians to an endocrine clinic

Yair Liel, Nitay Fraenkel · Journal of General Internal Medicine · 2005 · 20 citations · Full text

Endocrine Disease, Brief Report, Thyroid Disease +9