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Clinical Case Reports|July 11, 2018
A prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by QF-PCR, and characterized by array CGH and FISHShama L Bhola, Aggie W M Nieuwint, Kyra E Stuurman
Journal of Medical Genetics|May 2, 2019
Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS eraKyra E Stuurman, Marieke Joosten, Ineke van der Burgt, et al.
American Journal of Medical Genetics. Part A|November 27, 2019
TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangyFelix Boschann, Kyra E Stuurman, Christiaan de Bruin, et al.
Journal of Inherited Metabolic Disease|May 27, 2025
Phosphoribosylformylglycinamidine Synthase (PFAS) Deficiency: Clinical, Genetic and Metabolic Characterisation of a Novel Defect in Purine de Novo SynthesisMarie Zikanova, Vaclava Skopova, Kyra E Stuurman, et al.
Frontiers in Medicine|November 4, 2021
Isolated Increased Nuchal Translucency in First Trimester Ultrasound Scan: Diagnostic Yield of Prenatal Microarray and Outcome of PregnancyKyra E Stuurman, Marjolein H van der Mespel-Brouwer, Melanie A J Engels, et al.
Clinics and Research in Hepatology and Gastroenterology|June 15, 2019
Inflammatory bowel disease in Shwachman-Diamond syndrome; is there an association?Loes H C Nissen, Kyra E Stuurman, Cathelijne van der Feen, et al.
European Journal of Human Genetics : EJHG|October 30, 2025
Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosisMaki Iwai, Kyra E Stuurman, Kirsten Meagher, et al.
Prenatal Diagnosis|August 5, 2014
Involvement of neurons and retinoic acid in lymphatic development: new insights in increased nuchal translucencyNicole B Burger, Kyra E Stuurman, Evelien Kok, et al.
European Journal of Medical Genetics|September 14, 2023
The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosisKarin E M Diderich, Jasmijn E Klapwijk, Vyne van der Schoot, et al.
NPJ Genomic Medicine|September 5, 2017
Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformationXiaoyan Ge, Henry Gong, Kevin Dumas, et al.
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