Area of research
Pathology and Forensic Medicine · Genetics
Research interest
Research interests include Medicine, Lynch syndrome, Genetics, Cancer, MSH2, and MSH6.
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
<i>Solanum pennellii</i> (<scp>LA5240</scp>) backcross inbred lines (<scp>BILs</scp>) for high resolution mapping in tomato
A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies
The genetic landscape of Lynch syndrome in the Israeli population
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
The benefit of pancreatic cancer surveillance in carriers of germline <i>BRCA1/2</i> pathogenic variants
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome
Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews
Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background
Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group
Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance
Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin
Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications
Re‐evaluating the pathogenicity of the c.783+2T>C <i>BAP1</i> germline variant
Report of the fifth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Leiden, The Netherlands, July 6th 2019
Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants
Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center
Update on genetic predisposition to colorectal cancer and polyposis
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
Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy
Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance
Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents
Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)
Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)
Genetic features of Lynch syndrome in the Israeli population
Lynch Syndrome in high risk Ashkenazi Jews in Israel