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Yael Goldberg

Hebrew University of Jerusalem · IL
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Area of research
Pathology and Forensic Medicine · Genetics
Research interest
Research interests include Medicine, Lynch syndrome, Genetics, Cancer, MSH2, and MSH6.
h-index
citations
1,791
works
28
NIH funding
primary concept
email

Recent publications

Raising the Age for Starting Colonoscopy to 35 Years for Individuals With path_MSH6 Carriers May Lead to Missed Opportunities for Detecting Advanced Neoplasia in a Notable Percentage of Carriers
The American Journal of Gastroenterology 2025cited by 2position: middledoi
<i>Solanum pennellii</i> (<scp>LA5240</scp>) backcross inbred lines (<scp>BILs</scp>) for high resolution mapping in tomato
The Plant Journal 2024cited by 8position: middledoi
A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies
Genes 2024cited by 6position: lastdoi
The genetic landscape of Lynch syndrome in the Israeli population
Familial Cancer 2024cited by 2position: lastdoi
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database
EClinicalMedicine 2023cited by 103position: middledoi
The benefit of pancreatic cancer surveillance in carriers of germline <i>BRCA1/2</i> pathogenic variants
Cancer 2023cited by 12position: middledoi
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome
The American Journal of Human Genetics 2022cited by 76position: middledoi
Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews
Breast Cancer Research and Treatment 2022cited by 7position: lastdoi
Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background
Hereditary Cancer in Clinical Practice 2022cited by 5position: 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: middledoi
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group
Journal of Medical Genetics 2021cited by 138position: middledoi
Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance
Journal of Clinical Oncology 2021cited by 98position: middledoi
Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin
Neurology Genetics 2021cited by 22position: lastdoi
Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications
Breast Cancer Research and Treatment 2021cited by 14position: lastdoi
Re‐evaluating the pathogenicity of the c.783+2T&gt;C <i>BAP1</i> germline variant
Human Mutation 2021cited by 7position: firstdoi
Report of the fifth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Leiden, The Netherlands, July 6th 2019
Familial Cancer 2020cited by 24position: middledoi
Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants
Breast Cancer Research and Treatment 2020cited by 8position: lastdoi
Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center
Genetics in Medicine 2020cited by 5position: middledoi
Update on genetic predisposition to colorectal cancer and polyposis
Molecular Aspects of Medicine 2019cited by 205position: middledoi
Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
Human Mutation 2019cited by 133position: middledoi
Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A
Clinical and Translational Gastroenterology 2019cited by 18position: lastdoi
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy
Journal of Medical Genetics 2018cited by 58position: middledoi
Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance
Gastroenterology 2017cited by 44position: lastdoi
Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents
Gastroenterology 2015cited by 96position: middledoi
Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)
Journal of Medical Genetics 2014cited by 469position: middledoi
Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)
Journal of Medical Genetics 2014cited by 202position: middledoi
Genetic features of Lynch syndrome in the Israeli population
Clinical Genetics 2014cited by 11position: firstdoi
Lynch Syndrome in high risk Ashkenazi Jews in Israel
Familial Cancer 2013cited by 16position: firstdoi

Grants

No grants ingested yet.

Frequent collaborators

Zohar Levi · Hebrew University of Jerusalem7 papers (2013–2024) · 6 papers (2013–2024)Tamar Peretz · Hebrew University of Jerusalem5 papers (2013–2022)Lior H. Katz · Hebrew University of Jerusalem5 papers (2019–2025) · 5 papers (2014–2021)Chrystelle Colas · Université Paris Cité5 papers (2014–2021)Elizabeth Half · Rambam Health Care Campus5 papers (2017–2025)Shiri Shkedi‐Rafid · Hebrew University of Jerusalem4 papers (2021–2022)Ido Laish · Hebrew University of Jerusalem4 papers (2021–2025) · 4 papers (2014–2021) · 4 papers (2014–2020)Hans F. A. Vasen · Kliniken Essen-Mitte4 papers (2014–2020)Sari Lieberman · Hebrew University of Jerusalem4 papers (2017–2023) · 4 papers (2013–2025)Ephrat Levy‐Lahad · Hebrew University of Jerusalem3 papers (2017–2022)Rakefet Chen‐Shtoyerman · Kaplan Medical Center3 papers (2022–2025)Christian P. Kratz · Medizinische Hochschule Hannover3 papers (2014–2018) · 3 papers (2020–2024)Clara Ruíz-Ponte · Universidade de Santiago de Compostela3 papers (2014–2020) · 3 papers (2023–2025)
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