A single nucleotide polymorphism in the <i>RAD51</i> gene modifies cancer risk in <i>BRCA2</i> but not <i>BRCA1</i> carriers

Ephrat Levy‐Lahad, Amnon Lahad, Shlomit Eisenberg, +8

Proceedings of the National Academy of Sciences

Genome InstabilityOncologySingle Nucleotide PolymorphismCancer RiskCommon Brca1 +12

<i>EPG5</i> -related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

Susan Byrne, Jean-Marie U-King-Im, Ata Siddiqui, +50

Brain

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

Antonis C. Antoniou, Olga M. Sinilnikova, Lesley McGuffog, +131

Human Molecular Genetics

Association of the C677T polymorphism in the MTHFR gene with breast and/or ovarian cancer risk in Jewish women

Ruth Gershoni‐Baruch, Efrat Dagan, Doron Israeli, +3

European Journal of Cancer

Cancer RiskCancer EpidemiologyGeneticsGenetic EpidemiologyHuman Polymorphism +10

Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population

Sharon Simchoni, Eitan Friedman, Bella Kaufman, +11

Proceedings of the National Academy of Sciences

MEFV, TNF1rA, CARD15 and NLRP3 mutation analysis in PFAPA

Efrat Dagan, Ruth Gershoni‐Baruch, Ihab Khatib, +2

Rheumatology International

MedicineGeneticsPathogenesisPathologyDisease Gene Identification +3

The <i>LRRK2</i> G2019S mutation is associated with Parkinson disease and concomitant non-skin cancers

Rivka Inzelberg, Ohad Cohen, J. Aharon‐Peretz, +15

Neurology

The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews

Efrat Dagan, Ilana Schlesinger, M. Ayoub, +5

Parkinsonism & Related Disorders

Mendelian DisorderAshkenazi JewsParkinson DiseaseMolecular BiologyPathology +3

Mutational analyses ofBRCA1 andBRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer

Ronit Shiri‐Sverdlov, Peter J. Oefner, Limor Green, +13

Human Mutation

Androgen receptor CAG repeat length in Jewish Israeli women who are BRCA1/2 mutation carriers: association with breast/ovarian cancer phenotype

Efrat Dagan, Eitan Friedman, Tamar Paperna, +2

European Journal of Human Genetics

Breast OncologyJewish Israeli WomenBreast/ovarian Cancer PhenotypeMedicineGynecology +7