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Human Molecular Genetics|April 3, 2023
Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neuronsR Asadollahi, I Delvendahl, R Muff, et al.
European Journal of Human Genetics : EJHG|May 12, 2016
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndromeKatja Eggermann, Jet Bliek, Frédéric Brioude, et al.
Epilepsia|October 24, 2025
De novo missense variants in BAIAP2 are associated with developmental and epileptic encephalopathiesGang Zhang, Yaping Lu, Lingling Xie, et al.
Hemasphere|April 25, 2023
Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified CriteriaMareike Tometten, Martin Kirschner, Robert Meyer, et al.
Brain : a Journal of Neurology|August 12, 2020
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuolesCarola Hedberg-Oldfors, Robert Meyer, Kay Nolte, et al.
Nature Medicine|May 30, 2018
Convergence of placenta biology and genetic risk for schizophreniaGianluca Ursini, Giovanna Punzi, Qiang Chen, et al.
The Journal of Clinical Investigation|December 19, 2017
Microglia ablation alleviates myelin-associated catatonic signs in miceHana Janova, Sahab Arinrad, Evan Balmuth, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 10, 2026
Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4Philip Harrer, Volker Kittke, Alice Saparov, et al.
Molecular Psychiatry|September 4, 2013
Neuropsychiatric disease relevance of circulating anti-NMDA receptor autoantibodies depends on blood-brain barrier integrityC Hammer, B Stepniak, A Schneider, et al.
Nature Communications|September 2, 2015
Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humansLouise E Docherty, Faisal I Rezwan, Rebecca L Poole, et al.
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