Concepedia

Pola Smirin‐Yosef

PS

Statistics

Publications

16

Citations

775

H-Index

14

Active since

2012

Affiliations

Schneider Children's Medical Center(Current)

Rabin Medical Center

Tel Aviv University

Rafael Advanced Defense Systems (Israel)

Ariel University

Pola Smirin‐Yosef is an author at Schneider Children's Medical Center specializing in genetics, life sciences, and molecular genetics.

Publications per year

2012–2023

16

Publications

16

Exome Sequencing Reveals SYCE1 Mutation Associated With Autosomal Recessive Primary Ovarian Insufficiency

Liat de Vries, Doron M. Behar, Pola Smirin‐Yosef et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 179 citations

, , +17

eIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation

Guntram Borck, Byung‐Sik Shin, Barbara Stiller et al. · Molecular Cell · 2012 · 91 citations · Full text

, , +15

PEDIA: prioritization of exome data by image analysis

Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel et al. · Genetics in Medicine · 2019 · 86 citations · Full text

, , +17

Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum

Lina Basel‐Vanagaite, Tova Hershkovitz, Eli Heyman et al. · The American Journal of Human Genetics · 2013 · 81 citations · Full text

, , +12

A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis

Pola Smirin‐Yosef, Nehama Zuckerman‐Levin, Shay Tzur et al. · The Journal of Clinical Endocrinology & Metabolism · 2016 · 69 citations · Full text

, , +17

1–5 of 16