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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 10, 2014
Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitroSenthilkumar A Natesan, Alex J Bladon, Serdar Coskun, et al.Annals of Neurology|July 18, 2018
Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up DevelopmentKonrad Platzer, Benjamin Cogné, Jennifer Hague, et al.Clinical Genetics|October 21, 2021
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 geneServi J C Stevens, Constance T R M Stumpel, Karin E M Diderich, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 3, 2017
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disordersRolph Pfundt, Marisol Del Rosario, Lisenka E L M Vissers, et al.Nature Communications|October 21, 2017
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disabilityM R F Reijnders, M Kousi, G M van Woerden, et al.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.Pageof 32