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Nature Communications|September 2, 2024
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testingAnouk E J Janssen, Rebekka M Koeck, Rick Essers, et al.
Journal of Medical Genetics|October 15, 2013
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencingJanneke H M Schuurs-Hoeijmakers, Anneke T Vulto-van Silfhout, Lisenka E L M Vissers, et al.
Nature Genetics|June 12, 2012
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafnessSaskia B Wortmann, Frédéric M Vaz, Thatjana Gardeitchik, et al.
Nature Genetics|April 24, 2012
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycanTony Roscioli, Erik-Jan Kamsteeg, Karen Buysse, et al.
American Journal of Human Genetics|May 21, 2026
Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assemblyRobin Wijngaard, Caspar I van der Made, Sema Kalkan Uçar, et al.
American Journal of Human Genetics|January 1, 2019
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental DisordersSara Reynhout, Sandra Jansen, Dorien Haesen, et al.
Human Mutation|February 11, 2011
Recurrence and variability of germline EPCAM deletions in Lynch syndromeRoland P Kuiper, Lisenka E L M Vissers, Ramprasath Venkatachalam, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 17, 2026
NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary ChoreaRobin Wijngaard, Lucy Dougherty-de Miguel, German Demidov, et al.
European Journal of Human Genetics : EJHG|January 14, 2016
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in DrosophilaDorien Lugtenberg, Margot R F Reijnders, Michaela Fenckova, et al.
The Lancet Regional Health. Europe|July 17, 2023
Minimally invasive versus open distal pancreatectomy for resectable pancreatic cancer (DIPLOMA): an international randomised non-inferiority trialMaarten Korrel, Leia R Jones, Jony van Hilst, et al.
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