Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

Cyclic Nucleotide-gated Channel α-3 (CNGA3) Interacts with Stereocilia Tip-Link Cadherin 23 + Exon 68 or Alternatively with Myosin VIIa, Two Proteins Required for Hair Cell Mechanotransduction

(2013) Dakshnamurthy Selvakumar et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Autosomal Dominant Familial Dyskinesia and Facial Myokymia

(2012) Ying-Zhang Chen   ARCHIVES OF NEUROLOGY

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

(2012) Hashem A. Shihab et al.   HUMAN MUTATION

HCN1 and HCN2 Proteins Are Expressed in Cochlear Hair Cells

(2012) Neeliyath A. Ramakrishnan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

(2012) Saima Riazuddin et al.   NATURE GENETICS

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

The Calmodulin-Stimulated Adenylate Cyclase ADCY8 Sets the Sensitivity of Zebrafish Retinal Axons to Midline Repellents and Is Required for Normal Midline Crossing

(2010) H. Xu et al.   JOURNAL OF NEUROSCIENCE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Two interaction sites on mammalian adenylyl cyclase type I and II: modulation by calmodulin and Gβγ

(2008) Susanne Diel et al.   BIOCHEMICAL JOURNAL

Distinct Roles of Adenylyl Cyclases 1 and 8 in Opiate Dependence: Behavioral, Electrophysiological, and Molecular Studies

(2008) Venetia Zachariou et al.   BIOLOGICAL PSYCHIATRY