Matthew Bower

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

Matthew Bower, Rémi Salomon, Judith Allanson et al. · Human Mutation · 2011 · 152 citations · Full text

Pax2 Mutations, Urology, Mendelian Disorder +15

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

Sandy Hsu, Renee Sears, Roberta R. Lemos et al. · Neurogenetics · 2013 · 145 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +8

Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations

Juergen Scharner, Charlotte A. Brown, Matthew Bower et al. · Human Mutation · 2010 · 71 citations · Full text

Next generation sequencing for clinical diagnostics: Five year experience of an academic laboratory

Paige Hartman, Kenneth B. Beckman, Kevin A.T. Silverstein et al. · Molecular Genetics and Metabolism Reports · 2019 · 62 citations · Full text

A Survey of Genetic Counselors' Strategies for Addressing Ethical and Professional Challenges in Practice

Matthew Bower, Patricia McCarthy Veach, Dianne M. Bartels et al. · Journal of Genetic Counseling · 2002 · 59 citations · Full text

Family Medicine, Counseling, Genetic Testing +23