Esther Gill

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

Ellen Knierim, Hiromi Hirata, Nicole I. Wolf et al. · The American Journal of Human Genetics · 2016 · 72 citations · Full text

Spinal Cord Injury, Developmental Biology, Bone Morphogenic Protein +7

A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness

Ellen Knierim, Esther Gill, Franziska Seifert et al. · Human Genetics · 2017 · 58 citations

Congenital Myopathy, Mendelian Disorder, Genetic Disorder +8

<i>POMK</i> mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability

Anja von Renesse, Mina Petkova, Susanne Lützkendorf et al. · Journal of Medical Genetics · 2014 · 51 citations

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia

Gudrun Schottmann, Sylvie Picker‐Minh, Jana Marie Schwarz et al. · Mitochondrion · 2017 · 37 citations

Mendelian Disorder, Mitochondrial Function, Mitochondrial Dysfunction +8

Recessive truncating <i>IGHMBP2</i> mutations presenting as axonal sensorimotor neuropathy

Gudrun Schottmann, Heinz Jungbluth, Ulrike Schara et al. · Neurology · 2015 · 35 citations