Madeleine Fannemel

Update on Kleefstra Syndrome

Marjolein H. Willemsen, Anneke T. Vulto‐van Silfhout, Willy M. Nillesen et al. · Molecular Syndromology · 2011 · 178 citations · Full text

Down Syndrome, Chromatin, Developmental Biology +15

Unawareness of illness in chronic schizophrenia and its relationship to structural brain measures and neuropsychological tests

Frank Larøi, Madeleine Fannemel, Unni Rønneberg et al. · Psychiatry Research Neuroimaging · 2000 · 123 citations

Neuropsychology, Structural Brain Measures, Psychiatry +10

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny Lai et al. · Genetics in Medicine · 2021 · 79 citations · Full text

Neurodevelopmental Disorders, Syndromic Autism, Medicine +13

A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms

Eva Hladílková, Tuva Barøy, Madeleine Fannemel et al. · Molecular Cytogenetics · 2015 · 66 citations · Full text

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Hemant Bengani, Mark T. Handley, Mohsan Alvi et al. · Genetics in Medicine · 2017 · 61 citations · Full text