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Human Mutation|June 27, 2017
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disabilityRonit Marom, Mahim Jain, Lindsay C Burrage, et al.Prenatal Diagnosis|January 17, 2023
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experienceBrigitte H W Faas, Dineke Westra, Sonja A de Munnik, et al.Nature Neuroscience|August 2, 2016
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disabilityStefan H Lelieveld, Margot R F Reijnders, Rolph Pfundt, et al.Prenatal Diagnosis|April 26, 2020
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imagingChantal Deden, Kornelia Neveling, Dimitra Zafeiropopoulou, et al.Nature Medicine|November 23, 2023
Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy lossRick Essers, Igor N Lebedev, Ants Kurg, et al.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.Pageof 20