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European Journal of Pediatrics|March 30, 2023
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the NetherlandsRichelle A C M Olde Keizer, Abderrahim Marouane, Wilhelmina S Kerstjens-Frederikse, et al.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|April 8, 2022
Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up StudyCatharina J Heesterbeek, Sietse M Aukema, Robert-Jan H Galjaard, et al.European Journal of Medical Genetics|November 22, 2022
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathwayJulian Delanne, Magaly Lecat, Patrick R Blackburn, et al.Clinical Genetics|August 19, 2014
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorderA Chaudhry, A Noor, B Degagne, et al.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.Human Mutation|June 18, 2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenitaSuzanna G M Frints, Friederike Hennig, Roberto Colombo, et al.American Journal of Human Genetics|June 6, 2022
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 studyLisanne van Prooyen Schuurman, Erik A Sistermans, Diane Van Opstal, et al.European Journal of Human Genetics : EJHG|December 7, 2017
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencySandra Jansen, Alexander Hoischen, Bradley P Coe, et al.Journal of Medical Genetics|August 14, 2023
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutationsKatalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert, et al.American Journal of Human Genetics|March 5, 2016
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum DisordersHolly A F Stessman, Marjolein H Willemsen, Michaela Fenckova, et al.Pageof 32