Lisa Golmard


Ontology type: schema:Person     


Person Info

NAME

Lisa

SURNAME

Golmard

Publications in SciGraph latest 50 shown

  • 2019-05 ART-DeCo: easy tool for detection and characterization of cross-contamination of DNA samples in diagnostic next-generation sequencing analysis in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2019-01 ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors in ACTA NEUROPATHOLOGICA
  • 2018-04 Sporadic endometrial adenocarcinoma with MMR deficiency due to biallelic MSH2 somatic mutations in FAMILIAL CANCER
  • 2017-12 Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-03 Mosaicism and prenatal diagnosis options: insights from retinoblastoma in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-03 Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations in ONCOGENE
  • 2015-12 The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-12 An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers in BREAST CANCER RESEARCH
  • 2015-06 Germline RAD51B truncating mutation in a family with cutaneous melanoma in FAMILIAL CANCER
  • 2014-04 Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-12 Germline mutation in the RAD51B gene confers predisposition to breast cancer in BMC CANCER
  • 2013-05 Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2012-12 Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon in HEREDITARY CANCER IN CLINICAL PRACTICE
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