Michael Marble

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Jean‐Baptiste Rivière, Bregje W.M. van Bon, Alexander Hoischen et al. · Nature Genetics · 2012 · 306 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Mutations in LTBP4 Cause a Syndrome of Impaired Pulmonary, Gastrointestinal, Genitourinary, Musculoskeletal, and Dermal Development

Zsolt Urbán, Vishwanathan Hucthagowder, Nura Schürmann et al. · The American Journal of Human Genetics · 2009 · 163 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

A Novel Disease with Deficiency of Mitochondrial Very-Long-Chain Acyl-CoA Dehydrogenase

Toshifumi Aoyama, Yasushi Uchida, Richard I. Kelley et al. · Biochemical and Biophysical Research Communications · 1993 · 152 citations

Life Sciences, Biochemistry, Molecular Biology +14

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44

Blake C. Ballif, Jill A. Rosenfeld, Ryan N. Traylor et al. · Human Genetics · 2011 · 147 citations

Life Sciences, Genetics, Neuroscience +17

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

María J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti et al. · The American Journal of Human Genetics · 2020 · 110 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17