Jill Beis

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

Susanne Kohl, Ditta Zobor, Wei‐Chieh Chiang et al. · Nature Genetics · 2015 · 211 citations · Full text

Signal Transduction, Disease Mechanism, Genetic Disorder +7

Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4

Duane L. Guernsey, Haiyan Jiang, Julie Hussin et al. · The American Journal of Human Genetics · 2010 · 194 citations · Full text

Developmental Biology, Cell Division, Molecular Genetics +3

Predictive, pre‐natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000

Susan Creighton, EW Almqvist, D F Macgregor et al. · Clinical Genetics · 2003 · 167 citations

Genetic Testing, Genetics, Genetic Epidemiology +20

Overlapping spectra of <i>SMAD4</i> mutations in juvenile polyposis (JP) and JP–HHT syndrome

Carol J. Gallione, Arthur S. Aylsworth, Jill Beis et al. · American Journal of Medical Genetics Part A · 2010 · 147 citations

Severe retinopathy of prematurity associated with<i>FZD4</i>mutations

Anna L. Ells, Duane L. Guernsey, Karin Wallace et al. · Ophthalmic Genetics · 2010 · 63 citations