Publications by authors named "Helger G Yntema"

88Publications

Accurate detection of clinically relevant uniparental disomy from exome sequencing data.

Genet Med 2020 Apr 26;22(4):803-808. Epub 2019 Nov 26.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/s41436-019-0704-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118024PMC
April 2020

Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era.

J Med Genet 2019 10 30;56(10):654-661. Epub 2019 Apr 30.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands

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http://dx.doi.org/10.1136/jmedgenet-2018-105746DOI Listing
October 2019

1 in 38 individuals at risk of a dominant medically actionable disease.

Eur J Hum Genet 2019 02 5;27(2):325-330. Epub 2018 Oct 5.

Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://www.nature.com/articles/s41431-018-0284-2
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http://dx.doi.org/10.1038/s41431-018-0284-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336841PMC
February 2019

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.

Am J Hum Genet 2018 07 28;103(1):74-88. Epub 2018 Jun 28.

Hearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6037131PMC
July 2018

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment.

Hear Res 2017 04 12;347:56-62. Epub 2017 Jan 12.

Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.heares.2016.12.017DOI Listing
April 2017

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Am J Hum Genet 2016 09 18;99(3):711-719. Epub 2016 Aug 18.

Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(16)30267-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971630267
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http://dx.doi.org/10.1016/j.ajhg.2016.06.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044PMC
September 2016

Genome sequencing identifies major causes of severe intellectual disability.

Nature 2014 Jul 4;511(7509):344-7. Epub 2014 Jun 4.

1] Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands [2] Department of Clinical Genetics, Maastricht University Medical Centre. Universiteitssingel 50, 6229 ER Maastricht, the Netherlands [3].

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http://dx.doi.org/10.1038/nature13394DOI Listing
July 2014

NR2F1 mutations cause optic atrophy with intellectual disability.

Am J Hum Genet 2014 Feb 23;94(2):303-9. Epub 2014 Jan 23.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928641PMC
February 2014

A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study.

Croat Med J 2013 Dec;54(6):574-8

Darja Paro-Panjan, Department of Neonatology, Division of Pediatrics, University Medical Centre Ljubljana, Bohoriceva ulica 20, 1000 Ljubljana, Slovenia,

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893993PMC
http://dx.doi.org/10.3325/cmj.2013.54.574DOI Listing
December 2013

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study.

Indian J Hum Genet 2013 Apr;19(2):171-8

Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine Diponegoro University, Semarang, Indonesia ; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3758723PMC
http://dx.doi.org/10.4103/0971-6866.116118DOI Listing
April 2013

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

Eur J Hum Genet 2014 Apr 31;22(4):480-5. Epub 2013 Jul 31.

1] Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands [2] Institute of Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands [3] Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2013.169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953899PMC
April 2014

Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics.

Hum Mutat 2013 Oct 16;34(10):1322-8. Epub 2013 Jul 16.

Department of Clinical Genetics, Section of Community Genetics and the EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.22370DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4285964PMC
October 2013

Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient.

Case Rep Genet 2012 1;2012:949507. Epub 2012 Dec 1.

Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University GSG, 2nd Floor Jl. Dr. Sutomo 14, Semarang, Indonesia ; Department of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1155/2012/949507DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517822PMC
December 2012

Diagnostic exome sequencing in persons with severe intellectual disability.

N Engl J Med 2012 Nov 3;367(20):1921-9. Epub 2012 Oct 3.

Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1056/NEJMoa1206524DOI Listing
November 2012

Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion.

Gene 2012 Dec 17;511(2):451-4. Epub 2012 Sep 17.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.gene.2012.09.018DOI Listing
December 2012

Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome.

Clin Dysmorphol 2012 Oct;21(4):212-4

Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1097/MCD.0b013e3283557231DOI Listing
October 2012

A cytogenetic study in a large population of intellectually disabled Indonesians.

Genet Test Mol Biomarkers 2012 May 22;16(5):412-7. Epub 2011 Dec 22.

Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University GSG, Semarang, Indonesia.

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http://dx.doi.org/10.1089/gtmb.2011.0157DOI Listing
May 2012

Cardiac evaluation in children with Prader-Willi syndrome.

Acta Paediatr 2012 May 10;101(5):e225-31. Epub 2012 Jan 10.

Children's Heart Centre, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1111/j.1651-2227.2011.02570.xDOI Listing
May 2012

A newborn with overlapping features of AEC and EEC syndromes.

Am J Med Genet A 2011 Dec 7;155A(12):3100-3. Epub 2011 Nov 7.

Neonatology Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.34328DOI Listing
December 2011

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.

Eur J Hum Genet 2012 Mar 19;20(3):263-70. Epub 2011 Oct 19.

Department of Physiology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2011.189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3283182PMC
March 2012

Clinical phenotype of 5 females with a CDKL5 mutation.

J Child Neurol 2012 Jan 15;27(1):90-3. Epub 2011 Jul 15.

Department of Pediatric Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1177/0883073811413832DOI Listing
January 2012

Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects.

Dis Model Mech 2011 May 24;4(3):393-9. Epub 2011 Jan 24.

Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands.

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http://dx.doi.org/10.1242/dmm.007112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3097460PMC
May 2011

A mother and son with Noonan syndrome resulting from a PTPN11 mutation: first report of molecularly proven cases from Turkey.

Turk J Pediatr 2010 May-Jun;52(3):321-4

Department of Pediatric Endocrinology, Dokuz Eylül University Faculty of Medicine, Izmir, Turkey.

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September 2010

X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers.

Am J Med Genet A 2010 Feb;152A(2):387-93

Department of Obstetrics and Gynecology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.33243DOI Listing
February 2010

Mutations in the human TBX4 gene cause small patella syndrome.

Am J Hum Genet 2004 Jun 21;74(6):1239-48. Epub 2004 Apr 21.

Department of Human Genetics, University Medical Center Nijmegen, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1086/421331DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182087PMC
June 2004

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

Eur J Hum Genet 2004 Jan;12(1):24-8

Department of Human Genetics, University Medical Centre St Radboud, PO Box 9101, Nijmegen 6500 HB, The Netherlands.

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http://www.nature.com/articles/5201080
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http://dx.doi.org/10.1038/sj.ejhg.5201080DOI Listing
January 2004

Expanding phenotype of XNP mutations: mild to moderate mental retardation.

Am J Med Genet 2002 Jul;110(3):243-7

Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.10446DOI Listing
July 2002

Low frequency of MECP2 mutations in mentally retarded males.

Eur J Hum Genet 2002 Aug;10(8):487-90

Department of Human Genetics, University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5200836DOI Listing
August 2002

Familial oligoasthenoteratozoospermia: evidence of autosomal dominant inheritance with sex-limited expression.

Fertil Steril 2002 Feb;77(2):415-8

Department of Human Genetics, University Medical Centre Nijmegen, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/s0015-0282(01)02996-xDOI Listing
February 2002