Melanie Leffler
Hunter Genetics(AU)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Cell Adhesion Molecules Research, Autism Spectrum Disorder Research
Most-Cited Works
- → The MS4A family: counting past 1, 2 and 3(2015)129 cited
- → THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability(2015)78 cited
- → 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(2016)68 cited
- → New insights into Brunner syndrome and potential for targeted therapy(2015)68 cited
- → Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood(2022)53 cited
- → Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R(2015)46 cited
- → IncreasedSTAG2dosage defines a novel cohesinopathy with intellectual disability and behavioral problems(2015)32 cited
- → A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations(2017)29 cited
- → Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor(2020)21 cited
- → Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy(2017)17 cited