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Proceedings of the National Academy of Sciences of the United States of America|January 25, 2022
Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disordersJian Zhou, Hamdan Hamdan, Hari Krishna Yalamanchili, et al.Clinical Genetics|June 6, 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 PatientsCamille Bergès, Clément Sauvestre, Sophie Naudion, 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.American Journal of Human Genetics|May 28, 2019
Activating Mutations of RRAS2 Are a Rare Cause of Noonan SyndromeYline Capri, Elisabetta Flex, Oliver H F Krumbach, et al.Genes|June 2, 2021
Schuurs-Hoeijmakers Syndrome (PACS1 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
PHIP-associated Chung-Jansen syndrome: Report of 23 new individualsAntje Kampmeier, Elsa Leitão, Ilaria Parenti, et al.American Journal of Human Genetics|November 5, 2013
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophyMiriam Schmidts, Julia Vodopiutz, Sonia Christou-Savina, et al.Journal of Medical Genetics|November 6, 2021
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplexRuth J Falb, Amelie J Müller, Wolfram Klein, et al.Nature Communications|November 3, 2022
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome XElsa Leitão, Christopher Schröder, Ilaria Parenti, et al.Pageof 11