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The Turkish Journal of Pediatrics|August 20, 2010
A mother and son with Noonan syndrome resulting from a PTPN11 mutation: first report of molecularly proven cases from TurkeyKorcan Demir, Helger G Yntema, Ayça Altincik, et al.Journal of Child Neurology|July 19, 2011
Clinical phenotype of 5 females with a CDKL5 mutationXenia L Stalpers, Liesbeth Spruijt, Helger G Yntema, et al.Prenatal Diagnosis|May 23, 2024
Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnosesSanne P Smeekens, Maike Leferink, Helger G Yntema, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 27, 2019
Accurate detection of clinically relevant uniparental disomy from exome sequencing dataKevin Yauy, Nicole de Leeuw, Helger G Yntema, et al.Croatian Medical Journal|January 3, 2014
A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case studyGregor Nosan, Sara Bertok, Samo Vesel, et al.Nature Genetics|June 26, 2026
Near-perfect genome sequencing in medical geneticsQuentin Sabbagh, Christian Gilissen, Helger G Yntema, et al.Journal of Genetic Counseling|November 11, 2022
Clinical geneticists' views on and experiences with unsolicited findings in next-generation sequencing: "A great technology creating new dilemmas"Vyne van der Schoot, Carlijn Damsté, Helger G Yntema, et al.Human Mutation|February 22, 2022
Clinical exome sequencing-Mistakes and caveatsJordi Corominas, Sanne P Smeekens, Marcel R Nelen, et al.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.Fertility and Sterility|February 1, 2002
Familial oligoasthenoteratozoospermia: evidence of autosomal dominant inheritance with sex-limited expressionJoep H A M Tuerlings, Ron J T van Golde, Astrid R Oudakker, et al.Pageof 12