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 · 77 citations · Full text

Genetic Disorder, Genetics, Fragile X Spectrum +4

New insights into Brunner syndrome and potential for targeted therapy

Elizabeth E. Palmer, Melanie Leffler, Carolyn Rogers et al. · Clinical Genetics · 2015 · 67 citations

Translational Medicine, Explosive Aggression, Allergy +15

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

Hannah Stamberger, David Crosiers, Ganna Balagura et al. · Neurology · 2022 · 53 citations · Full text

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

Normal Copy Number, Developmental Biology, Mendelian Disorder +9

Increased<i>STAG2</i>dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

Raman Kumar, Mark Corbett, Bregje W.M. van Bon et al. · Human Molecular Genetics · 2015 · 32 citations · Full text

Developmental Biology, Mendelian Disorder, Psychiatry +15