Kristin G. Monaghan

Publications by Year

Research Areas

Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Ubiquitin and proteasome pathways

Most-Cited Works

• → Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling(2015)330 cited
• → Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss(2015)158 cited
• → Prophylactic total gastrectomy for familial gastric cancer(2001)140 cited
• → De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder(2017)108 cited
• → Prostate cancer risk from occupational exposure to polycyclic aromatic hydrocarbons interacting with the GSTP1 Ile105Val polymorphism(2006)100 cited
• → Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients(2020)96 cited
• → De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions(2016)92 cited
• → SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females(2021)89 cited
• → Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation(2019)84 cited
• → Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome(2019)81 cited