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Mutation databases

A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family

Kunjan Patel, Arnaud P. Giese, [ ... ], Bernice E. Morrow

Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese

Lee-Moay Lim, Xuan Zhao, [ ... ], Hung-Chun Chen

OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency

Steven Marston, Cecile Montgiraud, [ ... ], Ralph Knöll

Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders

Daniel L. Polla, Maria T. O. Cardoso, [ ... ], Robert Pogue

Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees

Amina Bakhchane, Majida Charif, [ ... ], Abdelhamid Barakat

Clinical Validation of Targeted Next Generation Sequencing for Colon and Lung Cancers

Nicky D’Haene, Marie Le Mercier, [ ... ], Isabelle Salmon

Longitudinal Detection and Persistence of Minority Drug-Resistant Populations and Their Effect on Salvage Therapy

Masako Nishizawa, Masakazu Matsuda, [ ... ], Wataru Sugiura

Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing

Bruno Maranhao, Pooja Biswas, [ ... ], Radha Ayyagari

Identification of Medically Actionable Secondary Findings in the 1000 Genomes

Emily Olfson, Catherine E. Cottrell, [ ... ], Laura J. Bierut

Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases

Yanqiu Liu, Xiaoming Wei, [ ... ], Yun Yang

Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease

Yi-Chu Liao, Yo-Tsen Liu, [ ... ], Yi-Chung Lee

Mastermind-Like 1 Is Ubiquitinated: Functional Consequences for Notch Signaling

Mozhgan Farshbaf, Mikael J. Lindberg, [ ... ], J. Brandon White

Precore/Core Region Mutations in Hepatitis B Virus DNA Predict Postoperative Survival in Hepatocellular Carcinoma

Ying Xie, Shufeng Liu, [ ... ], Zhanjun Guo

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