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Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 1, 2018
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathyF Tran Mau-Them, L Guibaud, L Duplomb, et al.
American Journal of Human Genetics|February 5, 2026
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 traffickingPilar Chacon-Millan, Antonella Delicato, Arif Mahmood, et al.
Physical Review Letters|May 21, 2005
Isotopic scaling and the symmetry energy in spectator fragmentationA Le Fèvre, G Auger, M L Begemann-Blaich, et al.
American Journal of Human Genetics|March 30, 2023
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhageMauro Lecca, Davut Pehlivan, Damià Heine Suñer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2023
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset strokeTheresa Brunet, Benedikt Zott, Victoria Lieftüchter, et al.
Psychological Medicine|October 19, 2021
Longitudinal clinical and functional outcome in distinct cognitive subgroups of first-episode psychosis: a cluster analysisPriscilla P Oomen, Marieke J H Begemann, Bodyl A Brand, et al.
Trials|February 9, 2020
To continue or not to continue? Antipsychotic medication maintenance versus dose-reduction/discontinuation in first episode psychosis: HAMLETT, a pragmatic multicenter single-blind randomized controlled trialMarieke J H Begemann, Ilse A Thompson, Wim Veling, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2020
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamicsAnaïs Begemann, Heinrich Sticht, Amber Begtrup, et al.
European Journal of Human Genetics : EJHG|March 5, 2025
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signatureClara Houdayer, Kathleen Rooney, Liselot van der Laan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SETYuwei Shi, Ananilia Silva, Christophe Debuy, et al.
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