← back to search

Avital Eilat

Hebrew University of Jerusalem · IL
Area of research
Pediatrics, Perinatology and Child Health · Molecular Biology
Research interest
Research interests include Medicine, Exome sequencing, Genetic counseling, Genetic testing, Cataracts, and Genetics.
h-index
citations
58
works
8
NIH funding
primary concept
email

Recent publications

Reconsidering a silent variant: SGCA’s role in atypical cardiomyopathy
European Journal of Human Genetics 2025cited by 1position: middledoi
Genetics of bilateral pediatric cataract in the Israeli and Palestinian populations
Graefe s Archive for Clinical and Experimental Ophthalmology 2024cited by 3position: middledoi
Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel
Genes 2024cited by 2position: middledoi
Intellectual disability syndrome associated with a homozygous founder variant in <i>SGSM3</i> in Ashkenazi Jews
Journal of Medical Genetics 2023cited by 2position: middledoi
Exome sequencing for structurally normal fetuses—yields and ethical issues
European Journal of Human Genetics 2022cited by 25position: middledoi
Genetic counseling practice for inherited eye diseases in an Israeli medical center during the COVID‐19 pandemic
Journal of Genetic Counseling 2021cited by 6position: middledoi
Information Women Choose to Receive About Prenatal Chromosomal Microarray Analysis
Obstetrics and Gynecology 2019cited by 14position: middledoi
Prenatal observation of nystagmus, cataracts, and brain abnormalities in a case of Zellweger spectrum disorder syndrome
Prenatal Diagnosis 2016cited by 5position: middledoi

Grants

No grants ingested yet.

Frequent collaborators

Vardiella Meiner · Hebrew University of Jerusalem4 papers (2016–2025)Tamar Harel · Hebrew University of Jerusalem4 papers (2022–2025)Michal Macarov · Hebrew University of Jerusalem3 papers (2019–2024)Hagit Daum · Hebrew University of Jerusalem2 papers (2019–2022)N. Yanai · Hebrew University of Jerusalem2 papers (2016–2022)Claudia Yahalom · Hebrew University of Jerusalem2 papers (2021–2024)Chaggai Rosenbluh · Hadassah Medical Center2 papers (2022–2025)Orly Elpeleg · Hebrew University of Jerusalem2 papers (2022–2023)Shiri Shkedi‐Rafid · Hebrew University of Jerusalem1 papers (2019–2019) · 1 papers (2023–2023)Donna R. Zwas · Hebrew University of Jerusalem1 papers (2025–2025) · 1 papers (2023–2023)Reeval Segel · Hebrew University of Jerusalem1 papers (2023–2023)Karen Hendler · Hadassah Medical Center1 papers (2024–2024)Hagar Mor‐Shaked · Hebrew University of Jerusalem1 papers (2022–2022) · 1 papers (2019–2019) · 1 papers (2019–2019) · 1 papers (2019–2019)Smadar Horowitz‐Cederboim · Hebrew University of Jerusalem1 papers (2025–2025) · 1 papers (2023–2023)