Concepedia

Hila Fridman

HF

Statistics

Publications

9

Citations

425

H-Index

9

Active since

2011

Affiliations

Shaare Zedek Medical Center(Current)

Hebrew University of Jerusalem

Maastricht University

Wellcome Sanger Institute

Radboud University Medical Center

Hila Fridman is an author at Shaare Zedek Medical Center specializing in molecular genetics, genetics, and human genetics.

ORCID

Publications per year

2011–2022

9

Publications

9

XX Ovarian Dysgenesis Is Caused by a PSMC3IP/HOP2 Mutation that Abolishes Coactivation of Estrogen-Driven Transcription

David Zangen, Yotam Kaufman, Sharon Zeligson et al. · The American Journal of Human Genetics · 2011 · 117 citations · Full text

, , +12

The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects

Hila Fridman, Helger G. Yntema, Reedik Mägi et al. · The American Journal of Human Genetics · 2021 · 76 citations · Full text

, , +12

Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century

Shamam Waldman, Daniel Backenroth, Éadaoin Harney et al. · Cell · 2022 · 62 citations · Full text

, , +14

Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral

Sari Lieberman, Ariela Tomer, Avi Ben-Chetrit et al. · Genetics in Medicine · 2016 · 59 citations · Full text

, , +12

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection

Adi Aran, Nuphar Rosenfeld, Ranit Jaron et al. · Neurology · 2016 · 38 citations · Full text

, , +17

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