Alexander Pepler

Neurologic phenotypes associated with <i>COL4A1</i> / <i>2</i> mutations

Sara Zagaglia, C. Selch, Jelena Radić Nišević et al. · Neurology · 2018 · 144 citations · Full text

Medicine, Neurology, Neuroscience +17

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

Konrad Platzer, Heinrich Sticht, Stacey L. Edwards et al. · The American Journal of Human Genetics · 2019 · 77 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

Federico Tessadori, Karen Duran, Karen Knapp et al. · The American Journal of Human Genetics · 2022 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy

Anne Schänzer, Alexander Pepler, Corina Heller et al. · Neuropediatrics · 2017 · 30 citations

Life Sciences, Genetics, Molecular Genetics +13

RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature

Cédric Le Caignec, Benjamin Ory, François Lamoureux et al. · The American Journal of Human Genetics · 2019 · 30 citations · Full text

Medicine, Genetics, Molecular Genetics +14