Melanie Leffler

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

Raman Kumar, Mark Corbett, Bregje W.M. van Bon et al. · The American Journal of Human Genetics · 2015 · 81 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

Elizabeth E. Palmer, Till Stuhlmann, Stefanie Weinert et al. · Molecular Psychiatry · 2016 · 72 citations · Full text

Medicine, Genetics, Molecular Genetics +17

New insights into Brunner syndrome and potential for targeted therapy

Elizabeth E. Palmer, Melanie Leffler, Carolyn Rogers et al. · Clinical Genetics · 2015 · 68 citations · Full text

Life Sciences, Genetics, Psychiatry +17

Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood

Hannah Stamberger, David Crosiers, Ganna Balagura et al. · Neurology · 2022 · 56 citations · Full text

Medicine, Neurology, Neuroscience +13

Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R

Melanie Leffler, Sanna Puusepp, Olga Žilina et al. · European Journal of Medical Genetics · 2015 · 46 citations

Life Sciences, Genetics, Molecular Genetics +16