Angelien Heister

Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

Kornelia Neveling, Lilian A. Martinez-Carrera, Irmgard Hölker et al. · The American Journal of Human Genetics · 2013 · 173 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +6

A missense mutation in the Kv1.1 voltage-gated potassium channel–encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia

Bob Glaudemans, Jenny van der Wijst, Rosana Hermínia Scola et al. · Journal of Clinical Investigation · 2009 · 156 citations · Full text

Electrolyte Disorder, Genetics, Blood Mg2+ Levels +22

Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia

Sascha Vermeer, Alexander Hoischen, Rowdy Meijer et al. · The American Journal of Human Genetics · 2010 · 147 citations · Full text

Autosomal-recessive Cerebellar Ataxia, Mendelian Disorder, Neurogenomics +7

Mutations of ESRRB Encoding Estrogen-Related Receptor Beta Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB35

Rob W.J. Collin, Ersan Kalay, Muhammad Tariq et al. · The American Journal of Human Genetics · 2008 · 128 citations · Full text

Developmental Biology, Genetics, Audiology +7

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

P. Smits, Ann Saada, Saskia B. Wortmann et al. · European Journal of Human Genetics · 2010 · 96 citations · Full text

Mitochondrial Myopathy, Lange-like Phenotype, Cardiomyopathy +9