Yael Goldberg

Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)

Hans F. A. Vasen, Zeinab Ghorbanoghli, Franck Bourdeaut et al. · Journal of Medical Genetics · 2014 · 199 citations · Full text

Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group

Melyssa Aronson, Chrystelle Colas, Andrew Y. Shuen et al. · Journal of Medical Genetics · 2021 · 135 citations · Full text

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

Magdalena Koczkowska, Tom Callens, Yunjia Chen et al. · Human Mutation · 2019 · 130 citations · Full text

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

Sahra Bodo, Chrystelle Colas, Olivier Buhard et al. · Gastroenterology · 2015 · 96 citations · Full text

Primary Immunodeficiency, Methylating Agents, Genetic Testing +10

Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance

Carol Durno, Ayse B. Ercan, Vanessa Bianchi et al. · Journal of Clinical Oncology · 2021 · 95 citations · Full text