Aviva Eliyahu

The Genetic Landscape and Epidemiology of Phenylketonuria

Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana et al. · The American Journal of Human Genetics · 2020 · 380 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency

May Christine V. Malicdan, Thierry Vilboux, Bruria Ben‐Zeev et al. · Human Mutation · 2017 · 53 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata et al. · Genetics in Medicine · 2021 · 49 citations · Full text

Medicine, Genetics, Molecular Genetics +13

<i>BRPF1</i>‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family

Naomi Pode‐Shakked, Ortal Barel, Ben Pode‐Shakked et al. · Molecular Genetics & Genomic Medicine · 2019 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects

Yoav Bolkier, Ortal Barel, Dina Marek‐Yagel et al. · Journal of Medical Genetics · 2021 · 30 citations

Life Sciences, Genetics, Molecular Genetics +17