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Nature Communications|May 22, 2021
Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathologyYulia Kargapolova, Rizwan Rehimi, Hülya Kayserili, et al.Annals of Neurology|April 19, 2013
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 geneKatja Lohmann, Robert A Wilcox, Susen Winkler, et al.American Journal of Human Genetics|May 29, 2012
RAD21 mutations cause a human cohesinopathyMatthew A Deardorff, Jonathan J Wilde, Melanie Albrecht, et al.Nature Communications|May 29, 2021
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonismBjörn-Hergen Laabs, Christine Klein, Jelena Pozojevic, et al.American Journal of Human Genetics|September 10, 2025
Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorderHammad Yousaf, Maayke A de Koning, Kamal Khan, et al.Brain : a Journal of Neurology|May 10, 2023
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defectsAndreas Roos, Peter F M van der Ven, Hadil Alrohaif, et al.Brain : a Journal of Neurology|November 26, 2020
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disordersFanny Mochel, Agnès Rastetter, Berten Ceulemans, et al.HGG Advances|March 30, 2024
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profilesSadegheh Haghshenas, Hidde J Bout, Josephine M Schijns, et al.Genes|June 2, 2021
Schuurs-Hoeijmakers Syndrome (<i>PACS1</i> Neurodevelopmental Disorder): Seven Novel Patients and a ReviewJair Tenorio-Castaño, Beatriz Morte, Julián Nevado, et al.Frontiers in Cell and Developmental Biology|February 2, 2023
<i>PHIP</i>-associated Chung-Jansen syndrome: Report of 23 new individualsAntje Kampmeier, Elsa Leitão, Ilaria Parenti, et al.Pageof 11