Leonie A. Menke

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Michael A. Levy, Haley McConkey, Jennifer Kerkhof et al. · Human Genetics and Genomics Advances · 2021 · 149 citations · Full text

Efficacy and Safety of Oxandrolone in Growth Hormone-Treated Girls with Turner Syndrome

Leonie A. Menke, Theo Sas, Sabine M.P.F. de Muinck Keizer‐Schrama et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 94 citations · Full text

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

Michael A. Levy, Raissa Relator, Haley McConkey et al. · Human Mutation · 2022 · 76 citations · Full text

Epigenetic Change, Genetics, Dna Methylation +17

Further delineation of Malan syndrome

Manuela Priolo, Denny Schanze, Katrin Tatton-Brown et al. · Human Mutation · 2018 · 75 citations · Full text

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

Leonie A. Menke · American Journal of Medical Genetics Part A · 2018 · 73 citations

Rubinstein–taybi Syndrome, Exons 30, Brain Development +26