Mary Beth Dinulos
Dartmouth–Hitchcock Medical Center(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Congenital heart defects research, Hedgehog Signaling Pathway Studies, BRCA gene mutations in cancer
Most-Cited Works
- → Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia(2003)628 cited
- → The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned(1996)439 cited
- → Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations(2005)276 cited
- → Mouse Autosomal Homolog ofDAZ,a Candidate Male Sterility Gene in Humans, Is Expressed in Male Germ Cells before and after Puberty(1996)145 cited
- → A dyadic approach to the delineation of diagnostic entities in clinical genomics(2021)116 cited
- → Investigation ofNRXN1deletions: Clinical and molecular characterization(2013)111 cited
- → Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care(2018)106 cited
- → The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome(2001)93 cited
- → Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases(2017)62 cited
- → 6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy(2017)60 cited