Gain-of-functionADCY5mutations in familial dyskinesia with facial myokymia

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

(2013) Michael O. Dorschner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Two Novel Mutations inABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects

(2013) Dong-Hui Chen et al.   HUMAN MUTATION

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

CHRNA3/5,IREB2, andADCY2Are Associated with Severe Chronic Obstructive Pulmonary Disease in Poland

(2012) Megan Hardin et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Autosomal Dominant Familial Dyskinesia and Facial Myokymia

(2012) Ying-Zhang Chen   ARCHIVES OF NEUROLOGY

Functional interactions between Fat family cadherins in tissue morphogenesis and planar polarity

(2012) S. Saburi et al.   DEVELOPMENT

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Additional information on familial essential (benign) chorea

(2010) Thomas D. Bird et al.   CLINICAL GENETICS

Loss of Modifier of Cell Adhesion Reveals a Pathway Leading to Axonal Degeneration

(2009) Q. Chen et al.   JOURNAL OF NEUROSCIENCE

Capturing adenylyl cyclases as potential drug targets

(2009) Sandra Pierre et al.   NATURE REVIEWS DRUG DISCOVERY

Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21

(2008) Wendy H. Raskind et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS