Jean P. Pfotenhauer

USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder

Yi-Heng Hao, Michael D. Fountain, Klementina Fon Tacer et al. · Molecular Cell · 2015 · 210 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +15

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Justyna A. Karolak, Marie Vincent, Gail Deutsch et al. · The American Journal of Human Genetics · 2019 · 183 citations · Full text

Life Sciences, Developmental Biology, Genetics +15

Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities

Blake C. Ballif, Aaron Theisen, Jill A. Rosenfeld et al. · The American Journal of Human Genetics · 2010 · 169 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Limitations of exome sequencing in detecting rare and undiagnosed diseases

Kendall J. Burdick, Joy D. Cogan, Lynette Rives et al. · American Journal of Medical Genetics Part A · 2020 · 105 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Lack of interest by nonpregnant couples in population-based cystic fibrosis carrier screening.

Ellen Wright Clayton, Vickie Hannig, Jean P. Pfotenhauer et al. · PubMed · 1996 · 87 citations · Full text

Medicine, Population Health Sciences, Preventive Medicine +13