Kristin G. Monaghan

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola et al. · The American Journal of Human Genetics · 2015 · 324 citations · Full text

Unexplained Intellectual Disability, Gender-specific Effects, Mendelian Disorder +10

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

Akemi Tanaka, Megan T. Cho, Francisca Millan et al. · The American Journal of Human Genetics · 2015 · 158 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Spata5 Are Associated +8

Prophylactic total gastrectomy for familial gastric cancer

Frank R. Lewis, John D. Mellinger, Allen Hayashi et al. · Surgery · 2001 · 140 citations

Surgical Oncology, Medicine, Gastroenterology +5

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Sébastien Küry, Thomas Besnard, Frédéric Ebstein et al. · The American Journal of Human Genetics · 2017 · 107 citations · Full text

Molecular Neuroscience, Developmental Biology, De Novo Disruption +12

Prostate cancer risk from occupational exposure to polycyclic aromatic hydrocarbons interacting with the GSTP1 Ile105Val polymorphism

Benjamin A. Rybicki, Christine Neslund‐Dudas, Nora L. Nock et al. · Cancer Detection and Prevention · 2006 · 96 citations · Full text

Occupational Toxicology, Urology, Cancer Risk +12