Hila Fridman - Concepedia

Author

Hila Fridman

Hebrew University of Jerusalem ORCID

Also Known As

Hila Fridman

Publications

450

Citations

H-Index

Concepts

All Affiliations

Hebrew University of Jerusalem Shaare Zedek Medical Center Maastricht University Wellcome Sanger Institute Radboud University Medical Center

About

Hila Fridman is an author at Hebrew University of Jerusalem specializing in medicine, genetics, and public health.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	225
2	Public Health	3	3	212
3	Epidemiology	2	2	97
4	Biology	1	1	13
5	Obstetrics	1	1	115

Hila Fridman

Publications

404

Citations

H-Index

Page 1

	Year	Citations
XX Ovarian Dysgenesis Is Caused by a PSMC3IP/HOP2 Mutation that Abolishes Coactivation of Estrogen-Driven Transcription David Zangen, Yotam Kaufman, Sharon Zeligson, The American Journal of Human Genetics Developmental BiologyOogenesisPsmc3ip/hop2 MutationGeneticsEstrogen-driven Transcription	2011	115
The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects Hila Fridman, Helger G. Yntema, Reedik Mägi, The American Journal of Human Genetics Allelic VariantPhenotypic VariationGenotype-phenotype AssociationMedicineGenetics	2021	67
Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral Sari Lieberman, Ariela Tomer, Avi Ben-Chetrit, Genetics in Medicine	2016	57
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century Shamam Waldman, Daniel Backenroth, Éadaoin Harney, Cell	2022	57
Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection Adi Aran, Nuphar Rosenfeld, Ranit Jaron, Neurology	2016	37
Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants Hila Fridman, Doron M. Behar, Shai Carmi, Genetics in Medicine Unknown SignificanceGenetic TestingGenetic EpidemiologyPreconception CarrierSignificant Variants	2019	30
A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia Oded Breuer, Maha Abdulhadi‐Atwan, Sharon Zeligson, European Journal of Endocrinology	2012	17
Performance comparison: exome sequencing as a single test replacing Sanger sequencing Hila Fridman, Concetta Bormans, Moshe Einhorn, Molecular Genetics and Genomics BiologyLong-read SequencingDna SequencingSequencingExome Sequencing	2021	13
The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects Hila Fridman, Helger G. Yntema, Reedik Mägi,	2020	11

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