Hana Poran

Mutations in <i>STN1</i> cause Coats plus syndrome and are associated with genomic and telomere defects

Amos J. Simon, Atar Lev, Yong Zhang et al. · The Journal of Experimental Medicine · 2016 · 137 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

Lior Greenbaum, Ben Pode‐Shakked, Shlomit Eisenberg‐Barzilai et al. · Frontiers in Genetics · 2019 · 44 citations · Full text

Life Sciences, Genetics, Obstetrics +16

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene <scp> <i>ATOH1</i> </scp>

Zippora Brownstein, Süleyman Gülsüner, Tom Walsh et al. · Clinical Genetics · 2020 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Prenatal diagnosis for <i>de novo</i> mutations: Experience from a tertiary center over a 10‐year period

Ori Eyal, Michal Berkenstadt, Haike Reznik‐Wolf et al. · Molecular Genetics & Genomic Medicine · 2019 · 12 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16