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Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variantsRobin Wijngaard, Caspar I van der Made, Sema Kalkan Uçar, et al.Nature Communications|May 27, 2018
Identification of rare de novo epigenetic variations in congenital disordersMafalda Barbosa, Ricky S Joshi, Paras Garg, et al.Nature|June 5, 2014
Genome sequencing identifies major causes of severe intellectual disabilityChristian Gilissen, Jayne Y Hehir-Kwa, Djie Tjwan Thung, et al.Human Molecular Genetics|February 8, 2013
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disordersZafar Iqbal, Geert Vandeweyer, Monique van der Voet, et al.Technical Innovations & Patient Support in Radiation Oncology|September 12, 2022
Online adaptive MR-guided radiotherapy: Conformity of contour adaptation for prostate cancer, rectal cancer and lymph node oligometastases among radiation therapists and radiation oncologistsMarnix J A Rasing, Gonda G Sikkes, Nicole G P M Vissers, et al.Movement Disorders : Official Journal of the Movement Disorder Society|February 22, 2023
LRRK2 Inhibition by BIIB122 in Healthy Participants and Patients with Parkinson's DiseaseDanna Jennings, Sarah Huntwork-Rodriguez, Maurits F J M Vissers, et al.Nature Genetics|June 28, 2011
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndromeAlexander Hoischen, Bregje W M van Bon, Benjamín Rodríguez-Santiago, et al.American Journal of Human Genetics|June 26, 2012
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disabilityTjitske Kleefstra, Jamie M Kramer, Kornelia Neveling, et al.Journal of Inherited Metabolic Disease|May 4, 2022
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniquesSaskia B Wortmann, Machteld M Oud, Mariëlle Alders, et al.American Journal of Human Genetics|January 28, 2014
NR2F1 mutations cause optic atrophy with intellectual disabilityDaniëlle G M Bosch, F Nienke Boonstra, Claudia Gonzaga-Jauregui, et al.Pageof 41