Eyby Leon

Mutations in NOTCH1 Cause Adams-Oliver Syndrome

Anna‐Barbara Stittrich, Anna Lehman, Dale L. Bodian et al. · The American Journal of Human Genetics · 2014 · 190 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Bo Yuan, Juanita Neira, Davut Pehli̇van et al. · Genetics in Medicine · 2018 · 88 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Further delineation of an entity caused by <i>CREBBP</i> and <i>EP300</i> mutations but not resembling Rubinstein–Taybi syndrome

Leonie A. Menke, Thatjana Gardeitchik, Peter Hammond et al. · American Journal of Medical Genetics Part A · 2018 · 76 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Spectrum of K _V 2.1 Dysfunction in <i>KCNB1</i> ‐Associated Neurodevelopmental Disorders

Seok Kyu Kang, Carlos G. Vanoye, Sunita N. Misra et al. · Annals of Neurology · 2019 · 69 citations · Full text

Natural Sciences, Neurobiology, Neuroscience +17

<i>CREBBP</i> mutations in individuals without Rubinstein–Taybi syndrome phenotype

Leonie A. Menke, Martine J. van Belzen, Mariëlle Alders et al. · American Journal of Medical Genetics Part A · 2016 · 68 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16