Y. Goldberg

发表

Homozygosity of MSH2 c.1906G→C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I

D. Bercovich, H. Baris, I. Lerer, 2008, Familial Cancer.

Endoscopic findings and esophageal cancer incidence among Fanconi Anemia patients participating in an endoscopic surveillance program.

H. Tamary, Y. Goldberg, I. Dotan, 2019, Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver.

COG6‐CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development

H. Mandel, Y. Goldberg, L. Kalfon, 2020, Clinical genetics.

A BRCA1 Frame Shift Mutation in Women of Kurdish Jewish Descent

A. Zick, Y. Goldberg, T. Peretz, 2015 .

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Michael F. Wangler, E. Haan, E. Zackai, 2019, Human mutation.

An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome

J. Houwing-Duistermaat, David Evans, S. Nikolaev, 2019, Genetics in Medicine.

Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity

D. Bercovich, H. Baris, I. Lerer, 2016, Pediatric blood & cancer.

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome

M. Christie, D. Wedge, N. López-Bigas, 2022, American journal of human genetics.

An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC

D. Bercovich, I. Lerer, Y. Goldberg, 2010, Familial Cancer.

Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin

R. Eliahou, Y. Goldberg, E. Pras, 2021, Neurology: Genetics.

Characterization of splice-altering mutations in inherited predisposition to cancer

T. Walsh, M. King, Ming K. Lee, 2019, Proceedings of the National Academy of Sciences.

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

A. Duval, K. Wimmer, Y. Goldberg, 2014, Journal of Medical Genetics.

Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews

S. Carmi, Y. Goldberg, I. Kedar, 2022, Breast Cancer Research and Treatment.

Age at diagnosis of cancer in 185delAG BRCA1 mutation carriers of diverse ethnicities: tentative evidence for modifier factors

D. Evans, E. Friedman, Y. Goldberg, 2020, Familial Cancer.

Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder

N. Shomron, D. Lev, Y. Goldberg, 2022, American journal of medical genetics. Part A.

Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in Israel

D. Behar, H. Baris, Y. Goldberg, 2017, Familial Cancer.

High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses

A. Rolfs, Y. Goldberg, M. Shohat, 2021, Prenatal diagnosis.

Polyposis Caused by Low APC Mosaicism

H. Jacob, C. Pritchard, Y. Goldberg, 2016 .

Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency

A. Shuldiner, N. Orenstein, K. Wimmer, 2019, Journal of Medical Genetics.

Antiphospholipid syndrome manifested by ischemic stroke in a patient with Crohn's disease.

J. Gomori, D. Mevorach, Y. Goldberg, 1996, Journal of clinical gastroenterology.

Constitutional mismatch repair deficiency–associated brain tumors: report from the European C4CMMRD consortium

P. Varlet, F. Andreiuolo, L. Guerrini-Rousseau, 2018, Neuro-oncology advances.

Complete remission, in BRCA2 mutation carrier with metastatic pancreatic adenocarcinoma, treated with cisplatin based therapy

L. Kadouri, Y. Goldberg, T. Peretz, 2011, Cancer biology & therapy.

OTT_A_276814 11637..11644

O. Margalit, E. Friedman, L. Kadouri, 2020 .

Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy

L. Messiaen, K. Wimmer, E. Legius, 2018, Journal of Medical Genetics.

Report of the fifth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Leiden, The Netherlands, July 6th 2019

M. Kloor, K. Wimmer, Y. Goldberg, 2020, Familial Cancer.

Genetic testing for assessment of lynch syndrome in young patients with polyps.

E. Friedman, U. Kopylov, Y. Goldberg, 2021, Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver.

Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype

A. Shuldiner, Y. Goldberg, A. Kurolap, 2019, Journal of Medical Genetics.

Recurrent TP53 missense mutation in cancer patients of Arab descent

A. Zick, L. Kadouri, Y. Goldberg, 2017, Familial Cancer.

Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background

Y. Goldberg, E. Derazne, Shlomi Cohen, 2022, Hereditary cancer in clinical practice.

Familial Translocation t(5;15)(p14.2;q26.2) Causing a Mirror Combination of Several Known Genetic Conditions

Y. Goldberg, Racheli Berger, L. Sagi‐Dain, 2017, Journal of Pediatric Neurology.

Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants

E. Friedman, L. Kadouri, Y. Goldberg, 2020, Breast Cancer Research and Treatment.

Genetic features of Lynch syndrome in the Israeli population

L. Kadouri, H. Baris, I. Lerer, 2015, Clinical genetics.

Mutated MCM9 is associated with predisposition to hereditary mixed polyposis and colorectal cancer in addition to primary ovarian failure.

V. Meiner, Y. Goldberg, O. Pappo, 2015, Cancer genetics.

Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A

T. Walsh, M. King, H. Jacob, 2019, Clinical and translational gastroenterology.

Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance.

T. Walsh, M. King, I. Tomlinson, 2017, Gastroenterology.

The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis‐like phenotype and early onset cancer

R. Elhasid, H. Baris, Y. Goldberg, 2015, Clinical genetics.

The rare 13q33–q34 microdeletions: eight new patients and review of the literature

Y. Goldberg, S. Ben-Shachar, L. Basel-Salmon, 2019, Human Genetics.

MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence

Y. Goldberg, M. Nielsen, S. Shalev, 2021, NPJ genomic medicine.

Lynch Syndrome in high risk Ashkenazi Jews in Israel

A. Nissan, H. Baris, I. Lerer, 2014, Familial Cancer.

Report of the fifth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Leiden, The Netherlands, July 6th 2019

K. Wimmer, Y. Goldberg, E. Bleiker, 2020, Familial Cancer.

Oncotype Dx recurrence score among BRCA1/2 germline mutation carriers with hormone receptors positive breast cancer

L. Kadouri, Y. Goldberg, T. Peretz, 2017, International journal of cancer.

When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations

Y. Goldberg, L. Basel-Salmon, M. Shohat, 2017, Genetics in Medicine.

Clinical Characteristics and Prognosis of Gastric Cancer Patients with BRCA 1/2 Germline Mutations: Report of Ten Cases and a Literature Review

O. Margalit, E. Friedman, L. Kadouri, 2020, OncoTargets and therapy.

Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)

A. Duval, K. Wimmer, Y. Goldberg, 2014, Journal of Medical Genetics.

Nonmalignant Features Associated with Inherited Colorectal Cancer Syndromes-Clues for Diagnosis

Y. Goldberg, M. Nielsen, S. Lieberman, 2022, Cancers.

Update on genetic predisposition to colorectal cancer and polyposis.

K. Hemminki, A. Försti, Y. Goldberg, 2019, Molecular aspects of medicine.

The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients

E. Friedman, Y. Goldberg, T. Peretz, 2019, Breast Cancer Research and Treatment.

Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay

Vered Kunik, B. Pode-Shakked, O. Barel, 2022, Frontiers in Pediatrics.

Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation

R. Ofir, O. Birk, T. Harel, 2004, European Journal of Human Genetics.

Genetic predisposition to radiation induced sarcoma: possible role for BRCA and p53 mutations

L. Kadouri, I. Lerer, Y. Goldberg, 2013, Breast Cancer Research and Treatment.

When phenotype does not match genotype: importance of “real-time” refining of phenotypic information for exome data interpretation

A. Shuldiner, N. Orenstein, Y. Goldberg, 2020, Genetics in Medicine.

When phenotype does not match genotype: importance of “real-time” refining of phenotypic information for exome data interpretation

A. Shuldiner, N. Orenstein, Y. Goldberg, 2020, Genetics in Medicine.

Neurofibromatosis Type 1—An Update and Review for the Primary Pediatrician

J. Graham, V. Riccardi, Y. Goldberg, 1996, Clinical pediatrics.

Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance

W. Foulkes, C. Hawkins, G. Nicholas, 2021, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations

E. Friedman, Y. Goldberg, T. Peretz, 2018, Breast Cancer Research and Treatment.

Treatment inferred from mutations identified using massive parallel sequencing leads to clinical benefit in some heavily pretreated cancer patients

A. Zick, Y. Goldberg, E. Pikarsky, 2016, Medicine.

Prenatal microarray analysis in right aortic arch—a retrospective cohort study and review of the literature

H. Baris, Y. Goldberg, S. Ben-Shachar, 2018, Journal of Perinatology.

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

W. Foulkes, Y. Goldberg, U. Tabori, 2021, Journal of Medical Genetics.

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

H. Blanché, A. Duval, R. Hamelin, 2015, Gastroenterology.

Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome

H. Daum, A. Frumkin, V. Meiner, 2022, Journal of Medical Genetics.

Vici syndrome in Israel: Clinical and molecular insights

H. Mandel, N. Fleischer, B. Pode-Shakked, 2022, Frontiers in Genetics.

In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease

D. Lev, Y. Goldberg, L. Basel-Salmon, 2022, Scientific reports.

Two intronic cis‐acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia

N. Shomron, A. Shuldiner, Y. Goldberg, 2021, Clinical genetics.

Di‐genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition

Y. Maruvka, S. Izraeli, H. Toledano, 2021, Clinical genetics.

High prevalence of MUTYH associated polyposis among minority populations in Israel, due to rare founder pathogenic variants.

G. Rennert, K. Weiss, Y. Goldberg, 2023, Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver.

Mutation spectrum in HNPCC in the Israeli population

E. Pikarski, D. Bercovich, A. Nissan, 2008, Familial Cancer.

Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications

E. Friedman, Y. Goldberg, I. Kedar, 2021, Breast Cancer Research and Treatment.

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

Aung Ko Win, M. von Knebel Doeberitz, B. Bonanni, 2023, EClinicalMedicine.

Correlations between pathogenic variants in DNA repair genes and anticancer treatment efficacy in stage IV non‐small cell lung cancer: A large real‐world cohort and review of the literature

Y. Goldberg, A. Allen, N. Peled, 2023, Thoracic cancer.

Oncotargets and Therapy Dovepress Clinical Course and Outcome of Patients with High-level Microsatellite Instability Cancers in a Real-life Setting: a Retrospective Analysis

L. Kadouri, Y. Goldberg, T. Peretz, 2022 .

Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome

T. van Wezel, Y. Goldberg, E. Pikarsky, 2020, JCI insight.