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Shiri Shkedi‐Rafid

Hebrew University of Jerusalem · IL
Area of research
Genetics · Pediatrics, Perinatology and Child Health
Research interest
Research interests include BRCA gene mutations in cancer, Prenatal Screening and Diagnostics, Genomics and Rare Diseases, and Genomic variations and chromosomal abnormalities.
h-index
13
citations
1,072
works
39
NIH funding
primary concept
email

Recent publications

Should recipient parents have access to gamete donors’ raw genomic data? Clinical, legal, and ethical considerations
Journal of Assisted Reproduction and Genetics 2025cited by 1position: firstdoi
Clinical and genetic characteristics of carriers of the TP53 c.541C > T, p.Arg181Cys pathogenic variant causing hereditary cancer in patients of Arab-Muslim descent
Familial Cancer 2024cited by 10position: lastdoi
The genetic landscape of Lynch syndrome in the Israeli population
Familial Cancer 2024cited by 2position: middledoi
Receiving uncertain results from prenatal chromosomal microarray analysis: Women's decisions on continuation or termination of pregnancy
Prenatal Diagnosis 2023cited by 13position: lastdoi
Cancer patients’ understandings of genetic variants of uncertain significance in clinical care
Journal of Community Genetics 2022cited by 10position: lastdoi
Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews
Breast Cancer Research and Treatment 2022cited by 7position: middledoi
Views of Israeli healthcare professionals regarding communication of genetic variants of uncertain significance to patients
Journal of Genetic Counseling 2022cited by 4position: lastdoi
Postpartum women's attitudes to disclosure of adult‐onset conditions in pregnancy
Prenatal Diagnosis 2022cited by 4position: middledoi
Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome
Journal of Medical Genetics 2022cited by 2position: lastdoi
Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin
Neurology Genetics 2021cited by 22position: middledoi
Is it time for prenatal chromosomal-microarray analysis to all women? A review of the diagnostic yield in structurally normal fetuses
Current Opinion in Obstetrics & Gynecology 2021cited by 10position: lastdoi
Re‐evaluating the pathogenicity of the c.783+2T&gt;C <i>BAP1</i> germline variant
Human Mutation 2021cited by 7position: middledoi
Fragmented responsibility: views of Israeli HCPs regarding patient recontact following variant reclassification
Journal of Community Genetics 2021cited by 6position: lastdoi
What is the meaning of a ‘genomic result’ in the context of pregnancy?
European Journal of Human Genetics 2020cited by 12position: firstdoi
Personalized prenatal genomic testing: Couples' experience with choice regarding uncertain and adult‐onset findings from chromosomal‐microarray‐analysis
Prenatal Diagnosis 2020cited by 9position: lastdoi
Psychiatric genetic counseling: A mapping exercise
American Journal of Medical Genetics Part B Neuropsychiatric Genetics 2019cited by 31position: middledoi
Information Women Choose to Receive About Prenatal Chromosomal Microarray Analysis
Obstetrics and Gynecology 2019cited by 14position: lastdoi
The Global State of the Genetic Counseling Profession
European Journal of Human Genetics 2018cited by 368position: middledoi
Clinicians' Attitudes toward General Screening of the Ashkenazi-Jewish Population for Prevalent Founder &lt;b&gt;&lt;i&gt;BRCA1/2&lt;/i&gt;&lt;/b&gt; and &lt;b&gt;&lt;i&gt;LRRK2&lt;/i&gt;&lt;/b&gt; Mutations
Public Health Genomics 2013cited by 10position: firstdoi
BRCA genetic testing of individuals from families with low prevalence of cancer: experiences of carriers and implications for population screening
Genetics in Medicine 2012cited by 18position: firstdoi

Grants

No grants ingested yet.

Frequent collaborators

Vardiella Meiner · Hebrew University of Jerusalem4 papers (2013–2024) · 4 papers (2021–2025)Yael Goldberg · Hebrew University of Jerusalem4 papers (2021–2022)Hagit Daum · Hebrew University of Jerusalem3 papers (2019–2022)Hagit Hochner · Hebrew University of Jerusalem3 papers (2019–2023)Ayala Frumkin · Hebrew University of Jerusalem3 papers (2019–2022) · 2 papers (2022–2024) · 2 papers (2021–2022) · 2 papers (2021–2022)Yechiel Friedlander · Hebrew University of Jerusalem2 papers (2022–2023)Liza Douiev · Hebrew University of Jerusalem2 papers (2019–2020)Michal Macarov · Hebrew University of Jerusalem2 papers (2019–2022)Ephrat Levy‐Lahad · Hebrew University of Jerusalem2 papers (2012–2022)Shira Stern · Hebrew University of Jerusalem2 papers (2021–2022)Vitalia Libman · Hebrew University of Jerusalem2 papers (2022–2023)Ronit Calderon‐Margalit · University of Illinois Chicago1 papers (2013–2013)Reeval Segel · Hebrew University of Jerusalem1 papers (2022–2022)Arnon Wiznitzer · Rabin Medical Center1 papers (2022–2022)Omri Weiss · Hebrew University of Jerusalem1 papers (2022–2022)Shamir Zenvirt · Hebrew University of Jerusalem1 papers (2022–2022)