Shahid Mahmood Baig

Loss of Cav1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness

Shahid Mahmood Baig, Alexandra Koschak, Andreas Lieb et al. · Nature Neuroscience · 2010 · 313 citations

Congenital Deafness, Channelopathies, Human Channelopathy +5

Imbalance between Neutrophil Elastase and its Inhibitor α1-Antitrypsin in Obesity Alters Insulin Sensitivity, Inflammation, and Energy Expenditure

Virginie Mansuy‐Aubert, Qiong Zhou, Xiangyang Xie et al. · Cell Metabolism · 2013 · 237 citations · Full text

Obesity, Metabolic Syndrome, Inflammation +13

Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

Tobias Eisenberger, Christine Neuhaus, Arif O. Khan et al. · PLoS ONE · 2013 · 225 citations · Full text

Cnv Analysis, Genetics, Genetic Epidemiology +17

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

Carol-Anne Martin, Ilyas Ahmad, Anna Klingseisen et al. · Nature Genetics · 2014 · 178 citations · Full text

Centriole Biogenesis, Ocular Disease, Developmental Biology +8

A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function

Muhammad Sajid Hussain, Shahid Mahmood Baig, Sascha Neumann et al. · The American Journal of Human Genetics · 2012 · 171 citations · Full text

Developmental Biology, Genetic Disorder, Autophagy +8