Odelia Chorin

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum et al. · The American Journal of Human Genetics · 2022 · 36 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies

Ben Pode‐Shakked, Ortal Barel, Amihood Singer et al. · Scientific Reports · 2021 · 27 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

María del Rocío Pérez Baca, Eva Jacobs, Lies Vantomme et al. · The American Journal of Human Genetics · 2024 · 25 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

Hellen Lesmann, Alexander Hustinx, Shahida Moosa et al. · medRxiv · 2023 · 24 citations · Full text

Life Sciences, Bioinformatics, Genetics +14