Dina Marek‐Yagel

Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy

Paulina Navon Elkan, Sarah B. Pierce, Reeval Segel et al. · New England Journal of Medicine · 2014 · 690 citations

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

Xiaolin Zhu, Slavé Petrovski, Pingxing Xie et al. · Genetics in Medicine · 2015 · 337 citations · Full text

Clinical disease among patients heterozygous for familial mediterranean fever

Dina Marek‐Yagel, Yackov Berkun, Shai Padeh et al. · Arthritis & Rheumatism · 2009 · 212 citations

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

Yair Anikster, Tobias B. Haack, Thierry Vilboux et al. · The American Journal of Human Genetics · 2017 · 149 citations · Full text

Genome Instability, Biallelic Mutations, Mendelian Disorder +8

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Gali Heimer, Juha M. Kerätär, Lisa G. Riley et al. · The American Journal of Human Genetics · 2016 · 101 citations · Full text

Mitochondrial Myopathy, Neurodegenerative Diseases, Mendelian Disorder +10