Hanka Venselaar

Hanka Venselaar

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Hanka Venselaar

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De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.

Authors:
Maria J Nabais Sá Hanka Venselaar Laurens Wiel Aurélien Trimouille Eulalie Lasseaux Sophie Naudion Didier Lacombe Amélie Piton Catherine Vincent-Delorme Christiane Zweier André Reis Regina Trollmann Anna Ruiz Elisabeth Gabau Annalisa Vetro Renzo Guerrini Somayeh Bakhtiari Michael C Kruer David J Amor Monica S Cooper Emilia K Bijlsma Tahsin Stefan Barakat Marieke F van Dooren Marjon van Slegtenhorst Rolph Pfundt Christian Gilissen Michèl A Willemsen Bert B A de Vries Arjan P M de Brouwer David A Koolen

Genet Med 2019 Nov 28. Epub 2019 Nov 28.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center (Radboudumc), Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/s41436-019-0703-yDOI Listing
November 2019

Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.

Authors:
Timothy C Cox Andrew C Lidral Jason C McCoy Huan Liu Liza L Cox Ying Zhu Ryan D Anderson Lina M Moreno Uribe Deepti Anand Mei Deng Chika T Richter Nichole L Nidey Jennifer M Standley Elizabeth E Blue Jessica X Chong Joshua D Smith Edwin P Kirk Hanka Venselaar Katy N Krahn Hans van Bokhoven Huiqing Zhou Robert A Cornell Ian A Glass Michael J Bamshad Deborah A Nickerson Jeffrey C Murray Salil A Lachke Thomas B Thompson Michael F Buckley Tony Roscioli

Hum Mutat 2019 10 18;40(10):1813-1825. Epub 2019 Jun 18.

New South Wales Health Pathology, Prince of Wales Hospital, Randwick, New South Wales, Australia.

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http://dx.doi.org/10.1002/humu.23793DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6764866PMC
October 2019

Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.

Authors:
L Tom Vlasveld Roel Janssen Edouard Bardou-Jacquet Hanka Venselaar Houda Hamdi-Roze Hal Drakesmith Dorine W Swinkels

Pharmaceuticals (Basel) 2019 Sep 9;12(3). Epub 2019 Sep 9.

Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.3390/ph12030132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6789780PMC
September 2019

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.

Authors:
Lot Snijders Blok Tjitske Kleefstra Hanka Venselaar Saskia Maas Hester Y Kroes Augusta M A Lachmeijer Koen L I van Gassen Helen V Firth Susan Tomkins Simon Bodek Katrin Õunap Monica H Wojcik Christopher Cunniff Katherine Bergstrom Zoë Powis Sha Tang Deepali N Shinde Catherine Au Alejandro D Iglesias Kosuke Izumi Jacqueline Leonard Ahmad Abou Tayoun Samuel W Baker Marco Tartaglia Marcello Niceta Maria Lisa Dentici Nobuhiko Okamoto Noriko Miyake Naomichi Matsumoto Antonio Vitobello Laurence Faivre Christophe Philippe Christian Gilissen Laurens Wiel Rolph Pfundt Pelagia Deriziotis Han G Brunner Simon E Fisher

Am J Hum Genet 2019 Aug 11;105(2):403-412. Epub 2019 Jul 11.

Language and Genetics Department, Max Planck Institute for Psycholinguistics, PO Box 310, 6500AH Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, PO Box 9104, 6500HE Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6698880PMC
August 2019

Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin.

Authors:
Ellen H J van den Bogaard Michel van Geel Ivonne M J J van Vlijmen-Willems Patrick A M Jansen Malou Peppelman Piet E J van Erp Selma Atalay Hanka Venselaar Marleen E H Simon Marieke Joosten Joost Schalkwijk Patrick L J M Zeeuwen

Genet Med 2019 07 14;21(7):1559-1567. Epub 2018 Nov 14.

Department of Dermatology, Radboud Institute for Molecular Life Sciences (RIMLS), Radboud University Nijmegen Medical Center (Radboudumc), Nijmegen, The Netherlands.

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http://www.nature.com/articles/s41436-018-0355-3
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http://dx.doi.org/10.1038/s41436-018-0355-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752276PMC
July 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Authors:
Lot Snijders Blok Justine Rousseau Joanna Twist Sophie Ehresmann Motoki Takaku Hanka Venselaar Lance H Rodan Catherine B Nowak Jessica Douglas Kathryn J Swoboda Marcie A Steeves Inderneel Sahai Connie T R M Stumpel Alexander P A Stegmann Patricia Wheeler Marcia Willing Elise Fiala Aaina Kochhar William T Gibson Ana S A Cohen Ruky Agbahovbe A Micheil Innes P Y Billie Au Julia Rankin Ilse J Anderson Steven A Skinner Raymond J Louie Hannah E Warren Alexandra Afenjar Boris Keren Caroline Nava Julien Buratti Arnaud Isapof Diana Rodriguez Raymond Lewandowski Jennifer Propst Ton van Essen Murim Choi Sangmoon Lee Jong H Chae Susan Price Rhonda E Schnur Ganka Douglas Ingrid M Wentzensen Christiane Zweier André Reis Martin G Bialer Christine Moore Marije Koopmans Eva H Brilstra Glen R Monroe Koen L I van Gassen Ellen van Binsbergen Ruth Newbury-Ecob Lucy Bownass Ingrid Bader Johannes A Mayr Saskia B Wortmann Kathy J Jakielski Edythe A Strand Katja Kloth Tatjana Bierhals John D Roberts Robert M Petrovich Shinichi Machida Hitoshi Kurumizaka Stefan Lelieveld Rolph Pfundt Sandra Jansen Pelagia Deriziotis Laurence Faivre Julien Thevenon Mirna Assoum Lawrence Shriberg Tjitske Kleefstra Han G Brunner Paul A Wade Simon E Fisher Philippe M Campeau

Nat Commun 2019 May 2;10(1):2079. Epub 2019 May 2.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-10161-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497626PMC
May 2019

Investigating the active site of human trimethyllysine hydroxylase.

Authors:
Yali Wang Y Vijayendar Reddy Abbas H K Al Temimi Hanka Venselaar Frank H T Nelissen Danny C Lenstra Jasmin Mecinović

Biochem J 2019 Apr 10;476(7):1109-1119. Epub 2019 Apr 10.

Institute for Molecules and Materials, Radboud University, Nijmegen, The Netherlands

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http://www.biochemj.org/lookup/doi/10.1042/BCJ20180857
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http://dx.doi.org/10.1042/BCJ20180857DOI Listing
April 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Authors:
Lot Snijders Blok Justine Rousseau Joanna Twist Sophie Ehresmann Motoki Takaku Hanka Venselaar Lance H Rodan Catherine B Nowak Jessica Douglas Kathryn J Swoboda Marcie A Steeves Inderneel Sahai Connie T R M Stumpel Alexander P A Stegmann Patricia Wheeler Marcia Willing Elise Fiala Aaina Kochhar William T Gibson Ana S A Cohen Ruky Agbahovbe A Micheil Innes P Y Billie Au Julia Rankin Ilse J Anderson Steven A Skinner Raymond J Louie Hannah E Warren Alexandra Afenjar Boris Keren Caroline Nava Julien Buratti Arnaud Isapof Diana Rodriguez Raymond Lewandowski Jennifer Propst Ton van Essen Murim Choi Sangmoon Lee Jong H Chae Susan Price Rhonda E Schnur Ganka Douglas Ingrid M Wentzensen Christiane Zweier André Reis Martin G Bialer Christine Moore Marije Koopmans Eva H Brilstra Glen R Monroe Koen L I van Gassen Ellen van Binsbergen Ruth Newbury-Ecob Lucy Bownass Ingrid Bader Johannes A Mayr Saskia B Wortmann Kathy J Jakielski Edythe A Strand Katja Kloth Tatjana Bierhals John D Roberts Robert M Petrovich Shinichi Machida Hitoshi Kurumizaka Stefan Lelieveld Rolph Pfundt Sandra Jansen Pelagia Deriziotis Laurence Faivre Julien Thevenon Mirna Assoum Lawrence Shriberg Tjitske Kleefstra Han G Brunner Paul A Wade Simon E Fisher Philippe M Campeau

Nat Commun 2019 02 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-08800-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377600PMC
February 2019

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Authors:
Lot Snijders Blok Justine Rousseau Joanna Twist Sophie Ehresmann Motoki Takaku Hanka Venselaar Lance H Rodan Catherine B Nowak Jessica Douglas Kathryn J Swoboda Marcie A Steeves Inderneel Sahai Connie T R M Stumpel Alexander P A Stegmann Patricia Wheeler Marcia Willing Elise Fiala Aaina Kochhar William T Gibson Ana S A Cohen Ruky Agbahovbe A Micheil Innes P Y Billie Au Julia Rankin Ilse J Anderson Steven A Skinner Raymond J Louie Hannah E Warren Alexandra Afenjar Boris Keren Caroline Nava Julien Buratti Arnaud Isapof Diana Rodriguez Raymond Lewandowski Jennifer Propst Ton van Essen Murim Choi Sangmoon Lee Jong H Chae Susan Price Rhonda E Schnur Ganka Douglas Ingrid M Wentzensen Christiane Zweier André Reis Martin G Bialer Christine Moore Marije Koopmans Eva H Brilstra Glen R Monroe Koen L I van Gassen Ellen van Binsbergen Ruth Newbury-Ecob Lucy Bownass Ingrid Bader Johannes A Mayr Saskia B Wortmann Kathy J Jakielski Edythe A Strand Katja Kloth Tatjana Bierhals John D Roberts Robert M Petrovich Shinichi Machida Hitoshi Kurumizaka Stefan Lelieveld Rolph Pfundt Sandra Jansen Pelagia Deriziotis Laurence Faivre Julien Thevenon Mirna Assoum Lawrence Shriberg Tjitske Kleefstra Han G Brunner Paul A Wade Simon E Fisher Philippe M Campeau

Nat Commun 2018 11 5;9(1):4619. Epub 2018 Nov 5.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://www.nature.com/articles/s41467-018-06014-6
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http://dx.doi.org/10.1038/s41467-018-06014-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218476PMC
November 2018

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

Authors:
Eric Lee Trang Le Ying Zhu George Elakis Anne Turner William Lo Hanka Venselaar Carol-Ann Verrenkamp Nicole Snow David Mowat Edwin Philip Kirk Rani Sachdev Janine Smith Natasha Jane Brown Mathew Wallis Chris Barnett Fiona McKenzie Mary-Louise Freckmann Felicity Collins Maya Chopra Nerine Gregersen Ian Hayes Sulekha Rajagopalan Tiong Yang Tan Zornitza Stark Ravi Savarirayan Alison Yeung Lesley Adès Michael Gattas Kate Gibson Michael Gabbett David John Amor Wanda Lattanzi Simeon Boyd Eric Haan Mark Gianoutsos Timothy Chilton Cox Michael Francis Buckley Tony Roscioli

Genet Med 2018 09 7;20(9):1061-1068. Epub 2017 Dec 7.

Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Australia.

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http://www.nature.com/articles/gim2017214
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http://dx.doi.org/10.1038/gim.2017.214DOI Listing
September 2018

Functional characterization of TBR1 variants in neurodevelopmental disorder.

Authors:
Joery den Hoed Elliot Sollis Hanka Venselaar Sara B Estruch Pelagia Deriziotis Simon E Fisher

Sci Rep 2018 09 24;8(1):14279. Epub 2018 Sep 24.

Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/s41598-018-32053-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6155134PMC
September 2018

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.

Authors:
Liza L Cox Timothy C Cox Lina M Moreno Uribe Ying Zhu Chika T Richter Nichole Nidey Jennifer M Standley Mei Deng Elizabeth Blue Jessica X Chong Yueqin Yang Russ P Carstens Deepti Anand Salil A Lachke Joshua D Smith Michael O Dorschner Bruce Bedell Edwin Kirk Anne V Hing Hanka Venselaar Luz C Valencia-Ramirez Michael J Bamshad Ian A Glass Jonathan A Cooper Eric Haan Deborah A Nickerson Hans van Bokhoven Huiqing Zhou Katy N Krahn Michael F Buckley Jeffrey C Murray Andrew C Lidral Tony Roscioli

Am J Hum Genet 2018 06 24;102(6):1143-1157. Epub 2018 May 24.

Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Sydney, NSW 2031, Australia; Prince of Wales Clinical School, University of New South Wales, Randwick, NSW 2031, Australia; Neuroscience Research Australia, Sydney, NSW 2031, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.04.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992119PMC
June 2018

Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.

Authors:
Vyne van der Schoot Sonja de Munnik Hanka Venselaar Mariet Elting Grazia M S Mancini Conny M A Ravenswaaij-Arts Britt-Marie Anderlid Han G Brunner Servi J C Stevens

Mol Genet Genomic Med 2018 05 24;6(3):393-400. Epub 2018 Mar 24.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.

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http://doi.wiley.com/10.1002/mgg3.387
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http://dx.doi.org/10.1002/mgg3.387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014478PMC
May 2018

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

Authors:
Mieke Wesdorp Pia A M de Koning Gans Margit Schraders Jaap Oostrik Martijn A Huynen Hanka Venselaar Andy J Beynon Judith van Gaalen Vitória Piai Nicol Voermans Michelle M van Rossum Bas P Hartel Stefan H Lelieveld Laurens Wiel Berit Verbist Liselotte J Rotteveel Marieke F van Dooren Peter Lichtner Henricus P M Kunst Ilse Feenstra Ronald J C Admiraal Helger G Yntema Lies H Hoefsloot Ronald J E Pennings Hannie Kremer

Hum Genet 2018 May 12;137(5):389-400. Epub 2018 May 12.

Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s00439-018-1880-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5973959PMC
May 2018

Mutations in Causing a Novel Orthostatic Hypotension Syndrome.

Authors:
Maarten P van den Berg Rowida Almomani Italo Biaggioni Martijn van Faassen Pim van der Harst Herman H W Silljé Irene Mateo Leach Marc H Hemmelder Gerjan Navis Gert Jan Luijckx Arjan P M de Brouwer Hanka Venselaar Marcel M Verbeek Paul A van der Zwaag Jan D H Jongbloed J Peter van Tintelen Ron A Wevers Ido P Kema

Circ Res 2018 03 17;122(6):846-854. Epub 2018 Jan 17.

From the Department of Cardiology (M.P.v.d.B., P.v.d.H., H.H.W.S., I.M.L.), Laboratory Medicine (M.v.F., I.P.K.), Department of Nephrology (G.N.), Department of Neurology (G.J.L.), and Department of Genetics (P.A.v.d.Z., J.D.H.J.), University Medical Center Groningen, University of Groningen, The Netherlands; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid (R.A.); Division of Clinical Pharmacology, Vanderbilt University, Medical Center, Nashville, TN (I.B.); Department of Internal Medicine, Medical Center Leeuwarden, The Netherlands (M.H.H.); Department of Genetics (A.P.M.d.B.), Centre for Molecular and Biomolecular Informatics (H.V.), and Translational Metabolic Laboratory, Department of Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Center Nijmegen, The Netherlands; and Department of Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (J.P.v.T.).

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https://www.ahajournals.org/doi/10.1161/CIRCRESAHA.117.31194
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http://dx.doi.org/10.1161/CIRCRESAHA.117.311949DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924476PMC
March 2018

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.

Authors:
Arjan Pol G Herma Renkema Albert Tangerman Edwin G Winkel Udo F Engelke Arjan P M de Brouwer Kent C Lloyd Renee S Araiza Lambert van den Heuvel Heymut Omran Heike Olbrich Marijn Oude Elberink Christian Gilissen Richard J Rodenburg Jörn Oliver Sass K Otfried Schwab Hendrik Schäfer Hanka Venselaar J Silvia Sequeira Huub J M Op den Camp Ron A Wevers

Nat Genet 2018 01 18;50(1):120-129. Epub 2017 Dec 18.

Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Nijmegen Medical Centre (RUNMC), Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/s41588-017-0006-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5742538PMC
January 2018

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.

Authors:
Saskia B Wortmann Sharita Timal Hanka Venselaar Liesbeth T Wintjes Robert Kopajtich René G Feichtinger Carla Onnekink Mareike Mühlmeister Ulrich Brandt Jan A Smeitink Joris A Veltman Wolfgang Sperl Dirk Lefeber Ger Pruijn Vesna Stojanovic Peter Freisinger Francjan V Spronsen Terry Gj Derks Hermine E Veenstra-Knol Johannes A Mayr Agnes Rötig Mark Tarnopolsky Holger Prokisch Richard J Rodenburg

Hum Mutat 2017 12 6;38(12):1786-1795. Epub 2017 Oct 6.

Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/humu.23340DOI Listing
December 2017

Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics.

Authors:
Laurens Wiel Hanka Venselaar Joris A Veltman Gert Vriend Christian Gilissen

Hum Mutat 2017 11 31;38(11):1454-1463. Epub 2017 Aug 31.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, GA, 6525, The Netherlands.

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http://doi.wiley.com/10.1002/humu.23313
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http://dx.doi.org/10.1002/humu.23313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656839PMC
November 2017

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.

Authors:
Ideke J C Lamers Margot R F Reijnders Hanka Venselaar Alison Kraus Sandra Jansen Bert B A de Vries Gunnar Houge Gyri Aasland Gradek Jieun Seo Murim Choi Jong-Hee Chae Ineke van der Burgt Rolph Pfundt Stef J F Letteboer Sylvia E C van Beersum Simone Dusseljee Han G Brunner Dan Doherty Tjitske Kleefstra Ronald Roepman

Am J Hum Genet 2017 Nov 26;101(5):824-832. Epub 2017 Oct 26.

Department of Human Genetics, and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6500 HB, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673605PMC
November 2017

Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.

Authors:
Stefan H Lelieveld Laurens Wiel Hanka Venselaar Rolph Pfundt Gerrit Vriend Joris A Veltman Han G Brunner Lisenka E L M Vissers Christian Gilissen

Am J Hum Genet 2017 Sep 31;101(3):478-484. Epub 2017 Aug 31.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591029PMC
September 2017

Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.

Authors:
Kriti D Khandelwal Charlotte W Ockeloen Hanka Venselaar Cécile Boulanger Bénédicte Brichard Etienne Sokal Rolph Pfundt Tuula Rinne Ellen van Beusekom Marjon Bloemen Gerrit Vriend Nicole Revencu Carine E L Carels Hans van Bokhoven Huiqing Zhou

Am J Med Genet A 2017 Jul 17;173(7):1813-1820. Epub 2017 May 17.

Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.38274DOI Listing
July 2017

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.

Authors:
Fabian Baertling Fathiya Al-Murshedi Laura Sánchez-Caballero Khalfan Al-Senaidi Niranjan P Joshi Hanka Venselaar Mariël Am van den Brand Leo Gj Nijtmans Richard Jt Rodenburg

Hum Mutat 2017 06 23;38(6):692-703. Epub 2017 Mar 23.

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

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http://dx.doi.org/10.1002/humu.23210DOI Listing
June 2017

NewProt - a protein engineering portal.

Authors:
Andreas Schwarte Maika Genz Lilly Skalden Alberto Nobili Clare Vickers Okke Melse Remko Kuipers Henk-Jan Joosten Jan Stourac Jaroslav Bendl Jon Black Peter Haase Coos Baakman Jiri Damborsky Uwe Bornscheuer Gert Vriend Hanka Venselaar

Protein Eng Des Sel 2017 06;30(6):441-447

CMBI, Radboud University Medical Centre, Geert Grooteplein Zuid 26-28, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/protein/gzx024DOI Listing
June 2017

A Gate Hinge Controls the Epithelial Calcium Channel TRPV5.

Authors:
Jenny van der Wijst Elizabeth H Leunissen Maxime G Blanchard Hanka Venselaar Sjoerd Verkaart Candice E Paulsen René J Bindels Joost G Hoenderop

Sci Rep 2017 04 4;7:45489. Epub 2017 Apr 4.

Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/srep45489DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5379628PMC
April 2017

CAD mutations and uridine-responsive epileptic encephalopathy.

Authors:
Johannes Koch Johannes A Mayr Bader Alhaddad Christian Rauscher Jörgen Bierau Reka Kovacs-Nagy Karlien L M Coene Ingrid Bader Monika Holzhacker Holger Prokisch Hanka Venselaar Ron A Wevers Felix Distelmaier Tilman Polster Steffen Leiz Cornelia Betzler Tim M Strom Wolfgang Sperl Thomas Meitinger Saskia B Wortmann Tobias B Haack

Brain 2017 02 21;140(2):279-286. Epub 2016 Dec 21.

Institute of Human Genetics, Technische Universität München, Munich, Germany

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http://dx.doi.org/10.1093/brain/aww300DOI Listing
February 2017

Retinal-Based Proton Pumping in the Near Infrared.

Authors:
Srividya Ganapathy Hanka Venselaar Que Chen Huub J M de Groot Klaas J Hellingwerf Willem J de Grip

J Am Chem Soc 2017 02 2;139(6):2338-2344. Epub 2017 Feb 2.

Leiden Institute of Chemistry, Leiden University , 2333 CC Leiden, The Netherlands.

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http://dx.doi.org/10.1021/jacs.6b11366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5342321PMC
February 2017

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.

Authors:
Galuh D N Astuti Gavin Arno Sarah Hull Laurence Pierrache Hanka Venselaar Keren Carss F Lucy Raymond Rob W J Collin Sultana M H Faradz L Ingeborgh van den Born Andrew R Webster Frans P M Cremers

Invest Ophthalmol Vis Sci 2016 Nov;57(14):6180-6187

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands 13Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.16-20148DOI Listing
November 2016

Highly conserved nucleotide phosphatase essential for membrane lipid homeostasis in Streptococcus pneumoniae.

Authors:
Kirsten Kuipers Clement Gallay Václav Martínek Manfred Rohde Markéta Martínková Samantha L van der Beek Wouter S P Jong Hanka Venselaar Aldert Zomer Hester Bootsma Jan-Willem Veening Marien I de Jonge

Mol Microbiol 2016 07 19;101(1):12-26. Epub 2016 Feb 19.

Laboratory of Pediatric Infectious Diseases, Department of Pediatrics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1111/mmi.13312DOI Listing
July 2016

Identification of a novel inactivating mutation in Isocitrate Dehydrogenase 1 (IDH1-R314C) in a high grade astrocytoma.

Authors:
Sanne A M van Lith Anna C Navis Krissie Lenting Kiek Verrijp Jan T G Schepens Wiljan J A J Hendriks Nil A Schubert Hanka Venselaar Ron A Wevers Arno van Rooij Pieter Wesseling Remco J Molenaar Cornelis J F van Noorden Stefan Pusch Bastiaan Tops William P J Leenders

Sci Rep 2016 07 27;6:30486. Epub 2016 Jul 27.

Department of Pathology, Radboudumc, Nijmegen, The Netherlands.

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July 2016

Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum.

Authors:
Anne Marthe Maria Oonk Ramon A C van Huet Joop M Leijendeckers Jaap Oostrik Hanka Venselaar Erwin van Wijk Andy Beynon Henricus P M Kunst Carel B Hoyng Hannie Kremer Margit Schraders Ronald J E Pennings

Ear Hear 2015 Mar-Apr;36(2):205-11

1Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands; 2Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands; 3Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands; 4Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; 5Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands; and 6Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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May 2016

Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.

Authors:
Julie W Rutten Hans G Dauwerse Dorien J M Peters Andrew Goldfarb Hanka Venselaar Christof Haffner Gert-Jan B van Ommen Annemieke M Aartsma-Rus Saskia A J Lesnik Oberstein

Brain 2016 Apr 19;139(Pt 4):1123-35. Epub 2016 Feb 19.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands

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http://dx.doi.org/10.1093/brain/aww011DOI Listing
April 2016

LRP5 variants may contribute to ADPKD.

Authors:
Wybrich R Cnossen René H M te Morsche Alexander Hoischen Christian Gilissen Hanka Venselaar Soufi Mehdi Carsten Bergmann Monique Losekoot Martijn H Breuning Dorien J M Peters Joris A Veltman Joost P H Drenth

Eur J Hum Genet 2016 Feb 29;24(2):237-42. Epub 2015 Apr 29.

Department of Gastroenterology and Hepatology, Institute for Genetic & Metabolic Disease (IGMD), Radboud Institute for Molecular LifeSciences (RIMLS), Radboud university medical center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2015.86DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717208PMC
February 2016

Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.

Authors:
Richarda M de Voer Marc-Manuel Hahn Robbert D A Weren Arjen R Mensenkamp Christian Gilissen Wendy A van Zelst-Stams Liesbeth Spruijt C Marleen Kets Junxiao Zhang Hanka Venselaar Lilian Vreede Nil Schubert Marloes Tychon Ronny Derks Hans K Schackert Ad Geurts van Kessel Nicoline Hoogerbrugge Marjolijn J L Ligtenberg Roland P Kuiper

PLoS Genet 2016 Feb 22;12(2):e1005880. Epub 2016 Feb 22.

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

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http://dx.doi.org/10.1371/journal.pgen.1005880DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4764646PMC
February 2016

Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.

Authors:
Shazia Micheal Sorath Noorani Siddiqui Saemah Nuzhat Zafar Hanka Venselaar Raheel Qamar Muhammad Imran Khan Anneke I den Hollander

Neurogenetics 2016 Jan 21;17(1):17-23. Epub 2015 Oct 21.

Department of Ophthalmology, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4701771PMC
January 2016

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.

Authors:
Dimitra Micha Dong-Chuan Guo Yvonne Hilhorst-Hofstee Fop van Kooten Dian Atmaja Eline Overwater Ferdy K Cayami Ellen S Regalado René van Uffelen Hanka Venselaar Sultana M H Faradz Gerrit Vriend Marjan M Weiss Erik A Sistermans Alessandra Maugeri Dianna M Milewicz Gerard Pals Fleur S van Dijk

Hum Mutat 2015 Dec 10;36(12):1145-9. Epub 2015 Sep 10.

Department of Clinical Genetics, Center for Connective Tissue Research, VU University Medical Center, Amsterdam, 1007, MB, The Netherlands.

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December 2015

A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.

Authors:
Louise F Porter Giorgio G Galli Sally Williamson Julian Selley David Knight Nursel Elcioglu Ali Aydin Mustafa Elcioglu Hanka Venselaar Anders H Lund Richard Bonshek Graeme C Black Forbes D Manson

Hum Mol Genet 2015 Dec 22;24(23):6565-79. Epub 2015 Sep 22.

Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1093/hmg/ddv345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4634368PMC
December 2015

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.

Authors:
Celia Zazo Seco Luciana Serrão de Castro Josephine W van Nierop Matías Morín Shalini Jhangiani Eva J J Verver Margit Schraders Nadine Maiwald Mieke Wesdorp Hanka Venselaar Liesbeth Spruijt Jaap Oostrik Jeroen Schoots Jeroen van Reeuwijk Stefan H Lelieveld Patrick L M Huygen María Insenser Ronald J C Admiraal Ronald J E Pennings Lies H Hoefsloot Alejandro Arias-Vásquez Joep de Ligt Helger G Yntema Joop H Jansen Donna M Muzny Gerwin Huls Michelle M van Rossum James R Lupski Miguel Angel Moreno-Pelayo Henricus P M Kunst Hannie Kremer

Am J Hum Genet 2015 Nov 29;97(5):647-60. Epub 2015 Oct 29.

Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.09.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667106PMC
November 2015

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.

Authors:
Josephina A N Meester Laura Southgate Anna-Barbara Stittrich Hanka Venselaar Sander J A Beekmans Nicolette den Hollander Emilia K Bijlsma Appolonia Helderman-van den Enden Joke B G M Verheij Gustavo Glusman Jared C Roach Anna Lehman Millan S Patel Bert B A de Vries Claudia Ruivenkamp Peter Itin Katrina Prescott Sheila Clarke Richard Trembath Martin Zenker Maja Sukalo Lut Van Laer Bart Loeys Wim Wuyts

Am J Hum Genet 2015 Sep 20;97(3):475-82. Epub 2015 Aug 20.

Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, 2650, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.07.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564989PMC
September 2015

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Authors:
Lot Snijders Blok Erik Madsen Jane Juusola Christian Gilissen Diana Baralle Margot R F Reijnders Hanka Venselaar Céline Helsmoortel Megan T Cho Alexander Hoischen Lisenka E L M Vissers Tom S Koemans Willemijn Wissink-Lindhout Evan E Eichler Corrado Romano Hilde Van Esch Connie Stumpel Maaike Vreeburg Eric Smeets Karin Oberndorff Bregje W M van Bon Marie Shaw Jozef Gecz Eric Haan Melanie Bienek Corinna Jensen Bart L Loeys Anke Van Dijck A Micheil Innes Hilary Racher Sascha Vermeer Nataliya Di Donato Andreas Rump Katrina Tatton-Brown Michael J Parker Alex Henderson Sally A Lynch Alan Fryer Alison Ross Pradeep Vasudevan Usha Kini Ruth Newbury-Ecob Kate Chandler Alison Male Sybe Dijkstra Jolanda Schieving Jacques Giltay Koen L I van Gassen Janneke Schuurs-Hoeijmakers Perciliz L Tan Igor Pediaditakis Stefan A Haas Kyle Retterer Patrick Reed Kristin G Monaghan Eden Haverfield Marvin Natowicz Angela Myers Michael C Kruer Quinn Stein Kevin A Strauss Karlla W Brigatti Katherine Keating Barbara K Burton Katherine H Kim Joel Charrow Jennifer Norman Audrey Foster-Barber Antonie D Kline Amy Kimball Elaine Zackai Margaret Harr Joyce Fox Julie McLaughlin Kristin Lindstrom Katrina M Haude Kees van Roozendaal Han Brunner Wendy K Chung R Frank Kooy Rolph Pfundt Vera Kalscheuer Sarju G Mehta Nicholas Katsanis Tjitske Kleefstra

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

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.2015.07.004DOI Listing
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August 2015

Identification of a novel MET mutation in high-grade glioma resulting in an auto-active intracellular protein.

Authors:
Anna C Navis Sanne A M van Lith Sander M J van Duijnhoven Maaike de Pooter Bahar Yetkin-Arik Pieter Wesseling Wiljan J A J Hendriks Hanka Venselaar Marco Timmer Patricia van Cleef Paul van Bergen En Henegouwen Myron G Best Thomas D Wurdinger Bastiaan B J Tops William P J Leenders

Acta Neuropathol 2015 Jul 11;130(1):131-44. Epub 2015 Apr 11.

Department of Pathology, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s00401-015-1420-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4469304PMC
July 2015

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Authors:
Shannon Marchegiani Taylor Davis Federico Tessadori Gijs van Haaften Francesco Brancati Alexander Hoischen Haigen Huang Elise Valkanas Barbara Pusey Denny Schanze Hanka Venselaar Anneke T Vulto-van Silfhout Lynne A Wolfe Cynthia J Tifft Patricia M Zerfas Giovanna Zambruno Ariana Kariminejad Farahnaz Sabbagh-Kermani Janice Lee Maria G Tsokos Chyi-Chia R Lee Victor Ferraz Eduarda Morgana da Silva Cathy A Stevens Nathalie Roche Oliver Bartsch Peter Farndon Eva Bermejo-Sanchez Brian P Brooks Valerie Maduro Bruno Dallapiccola Feliciano J Ramos Hon-Yin Brian Chung Cédric Le Caignec Fabiana Martins Witold K Jacyk Laura Mazzanti Han G Brunner Jeroen Bakkers Shuo Lin May Christine V Malicdan Cornelius F Boerkoel William A Gahl Bert B A de Vries Mieke M van Haelst Martin Zenker Thomas C Markello

Am J Hum Genet 2015 Jul 25;97(1):99-110. Epub 2015 Jun 25.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ajhg.2015.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572501PMC
July 2015

A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine.

Authors:
Se-Kyung Oh Jeong-In Baek Karl M Weigand Hanka Venselaar Herman G P Swarts Seong-Hyun Park Muhammad Hashim Raza Da Jung Jung Soo-Young Choi Sang-Heun Lee Thomas Friedrich Gert Vriend Jan B Koenderink Un-Kyung Kim Kyu-Yup Lee

Eur J Hum Genet 2015 May 20;23(5):639-45. Epub 2014 Aug 20.

Department of Otorhinolaryngology-Head and Neck Surgery, College of Medicine, Kyungpook National University, Daegu, South Korea.

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http://dx.doi.org/10.1038/ejhg.2014.154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402630PMC
May 2015

Modulation of spectral properties and pump activity of proteorhodopsins by retinal analogues.

Authors:
Srividya Ganapathy Odette Bécheau Hanka Venselaar Siebren Frölich Jeroen B van der Steen Que Chen Sarah Radwan Johan Lugtenburg Klaas J Hellingwerf Huub J M de Groot Willem J de Grip

Biochem J 2015 Apr;467(2):333-43

*Department of Biophysical Organic Chemistry, Leiden Institute of Chemistry, Gorlaeus Laboratories, Leiden University, P.O. Box 9502, 2300 RA Leiden, The Netherlands.

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April 2015

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.

Authors:
Aida M Bertoli-Avella Elisabeth Gillis Hiroko Morisaki Judith M A Verhagen Bianca M de Graaf Gerarda van de Beek Elena Gallo Boudewijn P T Kruithof Hanka Venselaar Loretha A Myers Steven Laga Alexander J Doyle Gretchen Oswald Gert W A van Cappellen Itaru Yamanaka Robert M van der Helm Berna Beverloo Annelies de Klein Luba Pardo Martin Lammens Christina Evers Koenraad Devriendt Michiel Dumoulein Janneke Timmermans Hennie T Bruggenwirth Frans Verheijen Inez Rodrigus Gareth Baynam Marlies Kempers Johan Saenen Emeline M Van Craenenbroeck Kenji Minatoya Ritsu Matsukawa Takuro Tsukube Noriaki Kubo Robert Hofstra Marie Jose Goumans Jos A Bekkers Jolien W Roos-Hesselink Ingrid M B H van de Laar Harry C Dietz Lut Van Laer Takayuki Morisaki Marja W Wessels Bart L Loeys

J Am Coll Cardiol 2015 Apr;65(13):1324-1336

Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2015.01.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4380321PMC
April 2015

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.

Authors:
Zafar Iqbal Marjolein H Willemsen Marie-Amélie Papon Luciana Musante Marco Benevento Hao Hu Hanka Venselaar Willemijn M Wissink-Lindhout Anneke T Vulto-van Silfhout Lisenka E L M Vissers Arjan P M de Brouwer Sylviane Marouillat Thomas F Wienker Hans Hilger Ropers Kimia Kahrizi Nael Nadif Kasri Hossein Najmabadi Frédéric Laumonnier Tjitske Kleefstra Hans van Bokhoven

Am J Hum Genet 2015 Mar 19;96(3):386-96. Epub 2015 Feb 19.

Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen 6500 HB, the Netherlands; Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition, and Behavior, Radboud university medical center, Nijmegen 6500 HB, the Netherlands. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375531PMC
March 2015

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

Authors:
G Herma Renkema Saskia B Wortmann Roel J Smeets Hanka Venselaar Marion Antoine Gepke Visser Tawfeg Ben-Omran Lambert P van den Heuvel Henri J L M Timmers Jan A Smeitink Richard J T Rodenburg

Eur J Hum Genet 2015 Feb 30;23(2):202-9. Epub 2014 Apr 30.

Nijmegen Center for Mitochondrial Disorders (NCMD) at the Department of Pediatrics, Radboud University Medical Center (Radboudumc), Nijmegen, The Netherlands.

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http://www.nature.com/doifinder/10.1038/ejhg.2014.80
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297908PMC
February 2015

Submembranous recruitment of creatine kinase B supports formation of dynamic actin-based protrusions of macrophages and relies on its C-terminal flexible loop.

Authors:
Gerda Venter Saskia Polling Helma Pluk Hanka Venselaar Mietske Wijers Marieke Willemse Jack A M Fransen Bé Wieringa

Eur J Cell Biol 2015 Feb 24;94(2):114-27. Epub 2014 Nov 24.

Department of Cell Biology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejcb.2014.11.002DOI Listing
February 2015

A germ line mutation in cathepsin B points toward a role in asparaginase pharmacokinetics.

Authors:
Laurens T van der Meer Esmé Waanders Marloes Levers Hanka Venselaar Debbie Roeleveld Joachim Boos Claudia Lanvers Roger J Brüggemann Roland P Kuiper Peter M Hoogerbrugge Frank N van Leeuwen D Maroeska te Loo

Blood 2014 Nov;124(19):3027-9

Pediatric Hemato-Oncology, Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1182/blood-2014-06-582627DOI Listing
November 2014

A dsRNA-binding protein of a complex invertebrate DNA virus suppresses the Drosophila RNAi response.

Authors:
Alfred W Bronkhorst Koen W R van Cleef Hanka Venselaar Ronald P van Rij

Nucleic Acids Res 2014 Oct 1;42(19):12237-48. Epub 2014 Oct 1.

Department of Medical Microbiology, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands

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http://dx.doi.org/10.1093/nar/gku910DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4231766PMC
October 2014

Gene polymorphisms in pattern recognition receptors and susceptibility to idiopathic recurrent vulvovaginal candidiasis.

Authors:
Diana C Rosentul Corine E Delsing Martin Jaeger Theo S Plantinga Marije Oosting Irene Costantini Hanka Venselaar Leo A B Joosten Jos W M van der Meer Bertrand Dupont Bart-Jan Kullberg Jack D Sobel Mihai G Netea

Front Microbiol 2014 23;5:483. Epub 2014 Sep 23.

Department of Internal Medicine, Radboud University Medical Center Nijmegen, Netherlands ; Nijmegen Institute for Infection, Inflammation and Immunity (N4i), Radboud University Medical Center Nijmegen, Netherlands.

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http://dx.doi.org/10.3389/fmicb.2014.00483DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4172055PMC
October 2014

SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).

Authors:
Hee-Jin Kim Hong-Hee Won Kyoung-Jin Park Sung Hwa Hong Chang-Seok Ki Sang Sun Cho Hanka Venselaar Gert Vriend Jong-Won Kim

PLoS One 2013 18;8(11):e79063. Epub 2013 Nov 18.

Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3832514PMC
July 2014

The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss.

Authors:
Tae-Jun Kwon Se-Kyung Oh Hong-Joon Park Osamu Sato Hanka Venselaar Soo Young Choi SungHee Kim Kyu-Yup Lee Jinwoong Bok Sang-Heun Lee Gert Vriend Mitsuo Ikebe Un-Kyung Kim Jae Young Choi

Open Biol 2014 Jul;4(7)

Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul, South Korea

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http://dx.doi.org/10.1098/rsob.140107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118606PMC
July 2014

Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis.

Authors:
Wybrich R Cnossen René H M te Morsche Alexander Hoischen Christian Gilissen Melissa Chrispijn Hanka Venselaar Soufi Mehdi Carsten Bergmann Joris A Veltman Joost P H Drenth

Proc Natl Acad Sci U S A 2014 Apr 24;111(14):5343-8. Epub 2014 Mar 24.

Departments of Gastroenterology and Hepatology and Human Genetics and Center for Molecular and Biomolecular Informatics, Institute for Genetic and Metabolic Disease, Radboud university medical center, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1073/pnas.1309438111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3986119PMC
April 2014

Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

Authors:
Silvia Ferrè Jeroen H F de Baaij Patrick Ferreira Roger Germann Johannis B C de Klerk Marla Lavrijsen Femke van Zeeland Hanka Venselaar Leo A J Kluijtmans Joost G J Hoenderop René J M Bindels

J Am Soc Nephrol 2014 Mar 7;25(3):574-86. Epub 2013 Nov 7.

Department of Physiology, Nijmegen Centre for Molecular Life Sciences.

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http://dx.doi.org/10.1681/ASN.2013040337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3935582PMC
March 2014

A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment.

Authors:
Jessica Nouws Flemming Wibrand Mariël van den Brand Hanka Venselaar Morten Duno Allan M Lund Simon Trautner Leo Nijtmans Elsebet Ostergard

JIMD Rep 2014 31;12:37-45. Epub 2013 Aug 31.

Nijmegen Centre for Mitochondrial Disorders at the Department of Pediatrics, Radboud University Medical Centre, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/8904_2013_242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897792PMC
January 2014

Familial hemiplegic migraine mutations affect Na,K-ATPase domain interactions.

Authors:
Herman G P Swarts Karl M Weigand Hanka Venselaar Arn M J M van den Maagdenberg Frans G M Russel Jan B Koenderink

Biochim Biophys Acta 2013 Dec 15;1832(12):2173-9. Epub 2013 Aug 15.

Department of Pharmacology and Toxicology 149, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. Electronic address:

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December 2013

Status quo of annotation of human disease variants.

Authors:
Hanka Venselaar Franscesca Camilli Shima Gholizadeh Marlou Snelleman Han G Brunner Gert Vriend

BMC Bioinformatics 2013 Dec 4;14:352. Epub 2013 Dec 4.

CMBI, NCMLS, Radboud University Nijmegen Medical Centre, Nijmegen, PO Box 9101, Nijmegen, HB 6500, The Netherlands.

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http://dx.doi.org/10.1186/1471-2105-14-352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4234487PMC
December 2013

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer.

Authors:
Richarda M de Voer Ad Geurts van Kessel Robbert D A Weren Marjolijn J L Ligtenberg Dominique Smeets Lei Fu Lilian Vreede Eveline J Kamping Eugène T P Verwiel Marc-Manuel Hahn Maayke Ariaans Liesbeth Spruijt Ton van Essen Gunnar Houge Hans K Schackert Jian Q Sheng Hanka Venselaar Conny M A van Ravenswaaij-Arts J Han J M van Krieken Nicoline Hoogerbrugge Roland P Kuiper

Gastroenterology 2013 Sep 5;145(3):544-7. Epub 2013 Jun 5.

Department of Human Genetics, Radboud University Medical Centre and Research Institute for Oncology, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1053/j.gastro.2013.06.001DOI Listing
September 2013

Bacterial CS2 hydrolases from Acidithiobacillus thiooxidans strains are homologous to the archaeal catenane CS2 hydrolase.

Authors:
Marjan J Smeulders Arjan Pol Hanka Venselaar Thomas R M Barends John Hermans Mike S M Jetten Huub J M Op den Camp

J Bacteriol 2013 Sep 8;195(18):4046-56. Epub 2013 Jul 8.

Department of Microbiology, Radboud University Nijmegen, Nijmegen, Netherlands.

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http://jb.asm.org/cgi/doi/10.1128/JB.00627-13
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3754733PMC
September 2013

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

Authors:
Susanne Roosing L Ingeborgh van den Born Carel B Hoyng Alberta A H J Thiadens Elfride de Baere Rob W J Collin Robert K Koenekoop Bart P Leroy Norka van Moll-Ramirez Hanka Venselaar Frans C C Riemslag Frans P M Cremers Caroline C W Klaver Anneke I den Hollander

Ophthalmology 2013 Jun 15;120(6):1239-46. Epub 2013 Mar 15.

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

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June 2013

Structural model of a putrescine-cadaverine permease from Trypanosoma cruzi predicts residues vital for transport and ligand binding.

Authors:
Radika Soysa Hanka Venselaar Jacqueline Poston Buddy Ullman Marie-Pierre Hasne

Biochem J 2013 Jun;452(3):423-32

Department of Biochemistry and Molecular Biology, Oregon Health and Science University, Portland, Oregon 97239, USA.

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http://dx.doi.org/10.1042/BJ20130350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3952013PMC
June 2013

Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.

Authors:
Muhammad Ajmal Muhammad Imran Khan Shazia Micheal Waqas Ahmed Ashfa Shah Hanka Venselaar Habib Bokhari Aisha Azam Nadia Khalida Waheed Rob W J Collin Anneke I den Hollander Raheel Qamar Frans P M Cremers

Mol Vis 2012 10;18:1226-37. Epub 2012 May 10.

Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan.

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December 2012

A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.

Authors:
Hyun-Ju Cho Hong-Joon Park Maria Trexler Hanka Venselaar Kyu Yup Lee Nahid G Robertson Jeong-In Baek Beom Sik Kang Cynthia C Morton Gert Vriend László Patthy Un-Kyung Kim

J Mol Med (Berl) 2012 Nov 19;90(11):1321-1331. Epub 2012 May 19.

Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu 702-701, South Korea.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361775PMC
November 2012

Phosphorylation target site specificity for AGC kinases DMPK E and Lats2.

Authors:
Lieke Gerrits Hanka Venselaar Bé Wieringa Derick G Wansink Wiljan J A J Hendriks

J Cell Biochem 2012 Jun;113(6):2126-35

Department of Cell Biology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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June 2012

NPHP4 variants are associated with pleiotropic heart malformations.

Authors:
Vanessa M French Ingrid M B H van de Laar Marja W Wessels Christan Rohe Jolien W Roos-Hesselink Guangliang Wang Ingrid M E Frohn-Mulder Lies-Anne Severijnen Bianca M de Graaf Rachel Schot Guido Breedveld Edwin Mientjes Marianne van Tienhoven Elodie Jadot Zhengxin Jiang Annemieke Verkerk Sigrid Swagemakers Hanka Venselaar Zohreh Rahimi Hossein Najmabadi Hanne Meijers-Heijboer Esther de Graaff Wim A Helbing Rob Willemsen Koen Devriendt John W Belmont Ben A Oostra Jeffrey D Amack Aida M Bertoli-Avella

Circ Res 2012 Jun 1;110(12):1564-74. Epub 2012 May 1.

Department of Clinical Genetics, Erasmus MC Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3916111PMC
June 2012

Dominant missense mutations in ABCC9 cause Cantú syndrome.

Authors:
Magdalena Harakalova Jeske J T van Harssel Paulien A Terhal Stef van Lieshout Karen Duran Ivo Renkens David J Amor Louise C Wilson Edwin P Kirk Claire L S Turner Debbie Shears Sixto Garcia-Minaur Melissa M Lees Alison Ross Hanka Venselaar Gert Vriend Hiroki Takanari Martin B Rook Marcel A G van der Heyden Folkert W Asselbergs Hans M Breur Marielle E Swinkels Ingrid J Scurr Sarah F Smithson Nine V Knoers Jasper J van der Smagt Isaac J Nijman Wigard P Kloosterman Mieke M van Haelst Gijs van Haaften Edwin Cuppen

Nat Genet 2012 May 18;44(7):793-6. Epub 2012 May 18.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/ng.2324DOI Listing
May 2012

Membrane topology and intracellular processing of cyclin M2 (CNNM2).

Authors:
Jeroen H F de Baaij Marchel Stuiver Iwan C Meij Sergio Lainez Kathrin Kopplin Hanka Venselaar Dominik Müller René J M Bindels Joost G J Hoenderop

J Biol Chem 2012 Apr 7;287(17):13644-55. Epub 2012 Mar 7.

Department of Physiology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1074/jbc.M112.342204DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3340180PMC
April 2012

Variation in genes of β-glucan recognition pathway and susceptibility to opportunistic infections in HIV-positive patients.

Authors:
Diana C Rosentul Theo S Plantinga Antonios Papadopoulos Leo A B Joosten Anastasia Antoniadou Hanka Venselaar Bart-Jan Kullberg Jos W M van der Meer Evangelos J Giamarellos-Bourboulis Mihai G Netea

Immunol Invest 2011 ;40(7-8):735-50

Department of Internal Medicine, Nijmegen Center for Molecular Life Sciences, Radboud University Nijmegen Medical Center, Geert Grooteplein 8, Nijmegen, The Netherlands.

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February 2012

A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.

Authors:
Lock Hock Ngu Leo G Nijtmans Felix Distelmaier Hanka Venselaar Sjenet E van Emst-de Vries Mariël A M van den Brand Berendien J M Stoltenborg Liesbeth T Wintjes Peter H Willems Lambertus P van den Heuvel Jan A Smeitink Richard J T Rodenburg

Biochim Biophys Acta 2012 Feb 20;1822(2):168-75. Epub 2011 Oct 20.

Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2011.10.012DOI Listing
February 2012

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.

Authors:
Nicole J D Weegerink Margit Schraders Jaap Oostrik Patrick L M Huygen Tim M Strom Susanne Granneman Ronald J E Pennings Hanka Venselaar Lies H Hoefsloot Mariet Elting Cor W R J Cremers Ronald J C Admiraal Hannie Kremer Henricus P M Kunst

J Assoc Res Otolaryngol 2011 Dec 23;12(6):753-66. Epub 2011 Jul 23.

Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214237PMC
December 2011

The structure-function relationship of the Aspergillus fumigatuscyp51A L98H conversion by site-directed mutagenesis: the mechanism of L98H azole resistance.

Authors:
Eveline Snelders Anna Karawajczyk Rob J A Verhoeven Hanka Venselaar Gijs Schaftenaar Paul E Verweij Willem J G Melchers

Fungal Genet Biol 2011 Nov 30;48(11):1062-70. Epub 2011 Aug 30.

Radboud University Nijmegen Medical Centre, Department of Medical Microbiology, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.fgb.2011.08.002DOI Listing
November 2011

Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors.

Authors:
Cathryn J Poulton Rachel Schot Sima Kheradmand Kia Marta Jones Frans W Verheijen Hanka Venselaar Marie-Claire Y de Wit Esther de Graaff Aida M Bertoli-Avella Grazia M S Mancini

Am J Hum Genet 2011 Aug;89(2):265-76

Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2011.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3155199PMC
August 2011

Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

Authors:
Lisenka E L M Vissers Ekkehart Lausch Sheila Unger Ana Belinda Campos-Xavier Christian Gilissen Antonio Rossi Marisol Del Rosario Hanka Venselaar Ute Knoll Sheela Nampoothiri Mohandas Nair Jürgen Spranger Han G Brunner Luisa Bonafé Joris A Veltman Bernhard Zabel Andrea Superti-Furga

Am J Hum Genet 2011 May 5;88(5):608-15. Epub 2011 May 5.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3146727PMC
May 2011

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.

Authors:
Paulien Smits Hana Antonicka Peter M van Hasselt Woranontee Weraarpachai Wolfram Haller Marieke Schreurs Hanka Venselaar Richard J Rodenburg Jan A Smeitink Lambert P van den Heuvel

Eur J Hum Genet 2011 Mar 1;19(3):275-9. Epub 2010 Dec 1.

Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2010.208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3062000PMC
March 2011

Mass spectrometry analysis of hepcidin peptides in experimental mouse models.

Authors:
Harold Tjalsma Coby M M Laarakkers Rachel P L van Swelm Milan Theurl Igor Theurl Erwin H Kemna Yuri E M van der Burgt Hanka Venselaar Bas E Dutilh Frans G M Russel Günter Weiss Rosalinde Masereeuw Robert E Fleming Dorine W Swinkels

PLoS One 2011 Mar 8;6(3):e16762. Epub 2011 Mar 8.

Laboratory of Genetic, Endocrine and Metabolic Diseases, Department of Laboratory Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3050808PMC
March 2011

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.

Authors:
Ingrid M B H van de Laar Rogier A Oldenburg Gerard Pals Jolien W Roos-Hesselink Bianca M de Graaf Judith M A Verhagen Yvonne M Hoedemaekers Rob Willemsen Lies-Anne Severijnen Hanka Venselaar Gert Vriend Peter M Pattynama Margriet Collée Danielle Majoor-Krakauer Don Poldermans Ingrid M E Frohn-Mulder Dimitra Micha Janneke Timmermans Yvonne Hilhorst-Hofstee Sita M Bierma-Zeinstra Patrick J Willems Johan M Kros Edwin H G Oei Ben A Oostra Marja W Wessels Aida M Bertoli-Avella

Nat Genet 2011 Feb 9;43(2):121-6. Epub 2011 Jan 9.

Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/ng.744DOI Listing
February 2011

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces.

Authors:
Hanka Venselaar Tim A H Te Beek Remko K P Kuipers Maarten L Hekkelman Gert Vriend

BMC Bioinformatics 2010 Nov 8;11:548. Epub 2010 Nov 8.

CMBI, NCMLS, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, Netherlands.

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http://dx.doi.org/10.1186/1471-2105-11-548DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2992548PMC
November 2010

The moonlighting function of pyruvate carboxylase resides in the non-catalytic end of the TIM barrel.

Authors:
Daphne H E W Huberts Hanka Venselaar Gert Vriend Marten Veenhuis Ida J van der Klei

Biochim Biophys Acta 2010 Sep 30;1803(9):1038-42. Epub 2010 Mar 30.

Department of Molecular Cell Biology, Groningen Biomolecular Sciences and Biotechnology Institute (GBB), Kluyver Centre for Genomics of Industrial Fermentation, University of Groningen, NL-9750 AA Haren, The Netherlands.

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http://dx.doi.org/10.1016/j.bbamcr.2010.03.018DOI Listing
September 2010

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.

Authors:
Jessica Nouws Leo Nijtmans Sander M Houten Mariël van den Brand Martijn Huynen Hanka Venselaar Saskia Hoefs Jolein Gloerich Jonathan Kronick Timothy Hutchin Peter Willems Richard Rodenburg Ronald Wanders Lambert van den Heuvel Jan Smeitink Rutger O Vogel

Cell Metab 2010 Sep;12(3):283-94

Nijmegen Centre for Mitochondrial Disorders at the Department of Pediatrics, Radboud University Nijmegen Medical Centre, The Netherlands.

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http://dx.doi.org/10.1016/j.cmet.2010.08.002DOI Listing
September 2010

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.

Authors:
Yu Sun Rowida Almomani Emmelien Aten Jacopo Celli Jaap van der Heijden Hanka Venselaar Stephen P Robertson Anna Baroncini Brunella Franco Lina Basel-Vanagaite Emiko Horii Ricardo Drut Yavuz Ariyurek Johan T den Dunnen Martijn H Breuning

Am J Hum Genet 2010 Jul;87(1):146-53

Center for Human and Clinical Genetics, Leiden University Medical Center, 2300RC Leiden, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2010.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2896768PMC
July 2010

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

Authors:
Konstantinos Nikopoulos Hanka Venselaar Rob W J Collin Rosa Riveiro-Alvarez F Nienke Boonstra Johanna M M Hooymans Arijit Mukhopadhyay Deborah Shears Marleen van Bers Ilse J de Wijs Anthonie J van Essen Rolf H Sijmons Mauk A D Tilanus C Erik van Nouhuys Carmen Ayuso Lies H Hoefsloot Frans P M Cremers

Hum Mutat 2010 Jun;31(6):656-66

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

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http://dx.doi.org/10.1002/humu.21250DOI Listing
June 2010

Homology modelling and spectroscopy, a never-ending love story.

Authors:
Hanka Venselaar Robbie P Joosten Bas Vroling Coos A B Baakman Maarten L Hekkelman Elmar Krieger Gert Vriend

Eur Biophys J 2010 Mar 29;39(4):551-63. Epub 2009 Aug 29.

Centre for Molecular and Biomolecular Informatics, CMBI, NCMLS 260, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s00249-009-0531-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2841279PMC
March 2010

The alpha-kinase family: an exceptional branch on the protein kinase tree.

Authors:
Jeroen Middelbeek Kristopher Clark Hanka Venselaar Martijn A Huynen Frank N van Leeuwen

Cell Mol Life Sci 2010 Mar 12;67(6):875-90. Epub 2009 Dec 12.

Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, The Netherlands.

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http://dx.doi.org/10.1007/s00018-009-0215-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2827801PMC
March 2010

Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia.

Authors:
Jenny van der Wijst Bob Glaudemans Hanka Venselaar Anil V Nair Anna-Lena Forst Joost G J Hoenderop René J M Bindels

J Biol Chem 2010 Jan 10;285(1):171-8. Epub 2009 Nov 10.

Department of Physiology, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1074/jbc.M109.041517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2804162PMC
January 2010

Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.

Authors:
Hee Keun Lee Mee Hyun Song Myengmo Kang Jung Tae Lee Kyoung-Ah Kong Su-Jin Choi Kyu Yup Lee Hanka Venselaar Gert Vriend Won-Sang Lee Hong-Joon Park Taeg Kyu Kwon Jinwoong Bok Un-Kyung Kim

Physiol Genomics 2009 Nov 11;39(3):195-201. Epub 2009 Aug 11.

Department of Biology, Kyungpook National University, Daegu, South Korea.

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http://dx.doi.org/10.1152/physiolgenomics.00100.2009DOI Listing
November 2009

Human dectin-1 deficiency and mucocutaneous fungal infections.

Authors:
Bart Ferwerda Gerben Ferwerda Theo S Plantinga Janet A Willment Annemiek B van Spriel Hanka Venselaar Clara C Elbers Melissa D Johnson Alessandra Cambi Cristal Huysamen Liesbeth Jacobs Trees Jansen Karlijn Verheijen Laury Masthoff Servaas A Morré Gert Vriend David L Williams John R Perfect Leo A B Joosten Cisca Wijmenga Jos W M van der Meer Gosse J Adema Bart Jan Kullberg Gordon D Brown Mihai G Netea

N Engl J Med 2009 Oct;361(18):1760-7

Department of Internal Medicine and the Nijmegen Institute for Infection, Inflammation, and Immunity, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1056/NEJMoa0901053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2773015PMC
October 2009

Role of the C-terminal linear region of EGF-like growth factors in ErbB specificity.

Authors:
Sebastian P van der Woning Hanka Venselaar Walter van Rotterdam Saskia Jacobs-Oomen Jeroen E M van Leeuwen Everardus J J van Zoelen

Growth Factors 2009 Jun;27(3):163-72

Department of Cell Biology, Faculty of Science, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1080/08977190902891010DOI Listing
June 2009

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.

Authors:
Ann Saada Rutger O Vogel Saskia J Hoefs Mariël A van den Brand Hans J Wessels Peter H Willems Hanka Venselaar Avraham Shaag Flora Barghuti Orit Reish Mordechai Shohat Martijn A Huynen Jan A M Smeitink Lambert P van den Heuvel Leo G Nijtmans

Am J Hum Genet 2009 Jun 21;84(6):718-27. Epub 2009 May 21.

Metabolic Disease Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2009.04.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694978PMC
June 2009

A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.

Authors:
Karin W Littink Maria M van Genderen Rob W J Collin Susanne Roosing Arjan P M de Brouwer Frans C C Riemslag Hanka Venselaar Alberta A H J Thiadens Carel B Hoyng Klaus Rohrschneider Anneke I den Hollander Frans P M Cremers L Ingeborgh van den Born

Invest Ophthalmol Vis Sci 2009 May 13;50(5):2344-50. Epub 2008 Dec 13.

Rotterdam Eye Hospital, Rotterdam, The Netherlands.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.0
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http://dx.doi.org/10.1167/iovs.08-2553DOI Listing
May 2009

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.

Authors:
Zubair M Ahmed Saber Masmoudi Ersan Kalay Inna A Belyantseva Mohamed Ali Mosrati Rob W J Collin Saima Riazuddin Mounira Hmani-Aifa Hanka Venselaar Mayya N Kawar Abdelaziz Tlili Bert van der Zwaag Shahid Y Khan Leila Ayadi S Amer Riazuddin Robert J Morell Andrew J Griffith Ilhem Charfedine Refik Caylan Jaap Oostrik Ahmet Karaguzel Abdelmonem Ghorbel Sheikh Riazuddin Thomas B Friedman Hammadi Ayadi Hannie Kremer

Nat Genet 2008 Nov 26;40(11):1335-40. Epub 2008 Oct 26.

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, Rockville, Maryland 20850, USA.

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http://dx.doi.org/10.1038/ng.245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3404732PMC
November 2008

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

Authors:
Zubair M Ahmed Saima Riazuddin Sandar Aye Rana A Ali Hanka Venselaar Saima Anwar Polina P Belyantseva Muhammad Qasim Sheikh Riazuddin Thomas B Friedman

Hum Genet 2008 Oct 22;124(3):215-23. Epub 2008 Aug 22.

Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1007/s00439-008-0543-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2716558PMC
October 2008

A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients.

Authors:
Dorine W Swinkels Hanka Venselaar Erwin T Wiegerinck Egbert Bakker Irma Joosten Christian A J J Jaspers Wies L Vasmel Martijn H Breuning

Blood Cells Mol Dis 2008 May-Jun;40(3):334-8. Epub 2007 Nov 26.

Department of Clinical Chemistry, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.bcmd.2007.10.003DOI Listing
August 2008

Role of the alpha-kinase domain in transient receptor potential melastatin 6 channel and regulation by intracellular ATP.

Authors:
Stéphanie Thébault Gang Cao Hanka Venselaar Qi Xi René J M Bindels Joost G J Hoenderop

J Biol Chem 2008 Jul 19;283(29):19999-20007. Epub 2008 May 19.

Department of Physiology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M800167200
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July 2008

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

Authors:
Rob W J Collin Ersan Kalay Muhammad Tariq Theo Peters Bert van der Zwaag Hanka Venselaar Jaap Oostrik Kwanghyuk Lee Zubair M Ahmed Refik Caylan Yun Li Henk A Spierenburg Erol Eyupoglu Angelien Heister Saima Riazuddin Elif Bahat Muhammad Ansar Selcuk Arslan Bernd Wollnik Han G Brunner Cor W R J Cremers Ahmet Karaguzel Wasim Ahmad Frans P M Cremers Gert Vriend Thomas B Friedman Sheikh Riazuddin Suzanne M Leal Hannie Kremer

Am J Hum Genet 2008 Jan;82(1):125-38

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2007.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2253958PMC
January 2008

Negative constraints underlie the ErbB specificity of epidermal growth factor-like ligands.

Authors:
Sebastian P van der Woning Walter van Rotterdam Sander B Nabuurs Hanka Venselaar Saskia Jacobs-Oomen Miriam Wingens Gert Vriend Catelijne Stortelers Everardus J J van Zoelen

J Biol Chem 2006 Dec 10;281(52):40033-40. Epub 2006 Oct 10.

Department of Cell Biology and Centre for Molecular and Biomolecular Informatics, Radboud University Nijmegen, Faculty of Science, Toernooiveld 1, 6525 ED Nijmegen, The Netherlands.

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http://dx.doi.org/10.1074/jbc.M603168200DOI Listing
December 2006