Eva Maria Christina Schwaibold

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun et al. · Molecular Psychiatry · 2020 · 67 citations · Full text

Setd1a Haploinsufficiency, Developmental Biology, Genetic Disorder +11

Trio exome sequencing is highly relevant in prenatal diagnostics

Heinz Gabriel, Dirk Korinth, M Ritthaler et al. · Prenatal Diagnosis · 2021 · 57 citations · Full text

The genomic and clinical landscape of fetal akinesia

Matthias Pergande, Susanne Motameny, Özkan Özdemir et al. · Genetics in Medicine · 2019 · 54 citations · Full text

Developmental Anomaly, Genetic Disorder, Genetics +5

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Paul C. Marcogliese, Samantha L. Deal, Jonathan C. Andrews et al. · Cell Reports · 2022 · 51 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Syndromic Autism +10

Microduplication of 3p26.3 in Nonsyndromic Intellectual Disability Indicates an Important Role of CHL1 for Normal Cognitive Function

Moneef Shoukier, Sigrid Fuchs, Eva Maria Christina Schwaibold et al. · Neuropediatrics · 2013 · 47 citations