Publications by authors named "Helger Yntema"

99Publications

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

Guidelines for diagnostic next-generation sequencing.

Eur J Hum Genet 2016 Jan 28;24(1):2-5. Epub 2015 Oct 28.

University Hospital of Tübingen, Institute of Medical Genetics and Applied Genomics, Tübingen, Germany.

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http://dx.doi.org/10.1038/ejhg.2015.226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795226PMC
January 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

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 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

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 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

Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients.

Parkinsonism Relat Disord 2014 Mar 10;20(3):332-6. Epub 2013 Dec 10.

Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S13538020130041
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http://dx.doi.org/10.1016/j.parkreldis.2013.11.019DOI Listing
March 2014

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

Nonsyndromic X-linked mental retardation: where are the missing mutations?

Trends Genet 2003 Jun;19(6):316-20

Max-Planck Institut für Molekulare Genetik, Ihnestrasse 73, D-14195 Berlin, Germany.

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http://dx.doi.org/10.1016/S0168-9525(03)00113-6DOI Listing
June 2003

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