Lynette S. Penney
Dalhousie University(CA)
Publications by Year
Research Areas
BRCA gene mutations in cancer, Genetic factors in colorectal cancer, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, Genomics and Rare Diseases
Most-Cited Works
- → Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants(2012)626 cited
- → Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care(2015)391 cited
- → Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance(2014)148 cited
- → A Fifth Locus for Bardet-Biedl Syndrome Maps to Chromosome 2q31(1999)125 cited
- → The complex behavioral phenotype of 15q13.3 microdeletion syndrome(2016)100 cited
- → Further evidence for germline BAP1 mutations predisposing to melanoma and malignant mesothelioma(2013)84 cited
- → Germline Mutations in MAP3K6 Are Associated with Familial Gastric Cancer(2014)68 cited
- → Five children with deletions of 1p34.3 encompassing AGO1 and AGO3(2014)62 cited
- → Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study(2024)54 cited
- → Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium(2016)47 cited