Publications by authors named "Arjan de Brouwer"

120Publications

Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in and .

Authors:
Nuno Maia Ana Rita Soares Ana Maria Fortuna Isabel Marques Ana Gonçalves Rosário Santos Manuel Melo Pires Arjan P M de Brouwer Paula Jorge

Clin Case Rep 2020 Dec 30;8(12):2476-2482. Epub 2020 Jul 30.

Unidade de Genética Molecular Centro de Genética Médica Jacinto de Magalhães (CGM) Centro Hospitalar Universitário do Porto (CHUP) Porto Portugal.

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December 2020

De Novo Variants in EEF2 Cause a Neurodevelopmental Disorder with Benign External Hydrocephalus.

Authors:
Maria J Nabais Sá Alexandra N Olson Grace Yoon Graeme A M Nimmo Christopher M Gomez Michèl A Willemsen Francisca Millan Alexandra Schneider Rolph Pfundt Arjan P M de Brouwer Jonathan D Dinman Bert B A de Vries

Hum Mol Genet 2020 Dec 23. Epub 2020 Dec 23.

Department of Human Genetics, Radboud university medical center and Donders Institute for Brain, Cognition and Behavior, 6525 GA Nijmegen, The Netherlands.

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December 2020

Two Compound Heterozygous Variants in Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20.

Authors:
Nuno Maia Gabriela Soares Cecília Silva Isabel Marques Bárbara Rodrigues Rosário Santos Manuel Melo-Pires Arjan Pm de Brouwer Teresa Temudo Paula Jorge

Front Genet 2020 24;11:1038. Epub 2020 Sep 24.

Unidade de Genética Molecular, Centro de Genética Médica Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUP), Porto, Portugal.

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September 2020

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

Authors:
Lisenka E L M Vissers Sreehari Kalvakuri Elke de Boer Sinje Geuer Machteld Oud Inge van Outersterp Michael Kwint Melde Witmond Simone Kersten Daniel L Polla Dilys Weijers Amber Begtrup Kirsty McWalter Anna Ruiz Elisabeth Gabau Jenny E V Morton Christopher Griffith Karin Weiss Candace Gamble James Bartley Hilary J Vernon Kendra Brunet Claudia Ruivenkamp Sarina G Kant Paul Kruszka Austin Larson Alexandra Afenjar Thierry Billette de Villemeur Kimberly Nugent F Lucy Raymond Hanka Venselaar Florence Demurger Claudia Soler-Alfonso Dong Li Elizabeth Bhoj Ian Hayes Nina Powell Hamilton Ayesha Ahmad Rachel Fisher Myrthe van den Born Marjolaine Willems Arthur Sorlin Julian Delanne Sebastien Moutton Philippe Christophe Frederic Tran Mau-Them Antonio Vitobello Himanshu Goel Lauren Massingham Chanika Phornphutkul Jennifer Schwab Boris Keren Perrine Charles Maaike Vreeburg Lenika De Simone George Hoganson Maria Iascone Donatella Milani Lucie Evenepoel Nicole Revencu D Isum Ward Kaitlyn Burns Ian Krantz Sarah E Raible Jill R Murrell Kathleen Wood Megan T Cho Hans van Bokhoven Maximilian Muenke Tjitske Kleefstra Rolf Bodmer Arjan P M de Brouwer

Am J Hum Genet 2020 07 17;107(1):164-172. Epub 2020 Jun 17.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.

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July 2020

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.

Authors:
Maria J Nabais Sá Geniver El Tekle Arjan P M de Brouwer Sarah L Sawyer Daniela Del Gaudio Michael J Parker Farah Kanani Marie-José H van den Boogaard Koen van Gassen Margot I Van Allen Klaas Wierenga Gabriela Purcarin Ellen Roy Elias Amber Begtrup Jennifer Keller-Ramey Tiziano Bernasocchi Laurens van de Wiel Christian Gilissen Hanka Venselaar Rolph Pfundt Lisenka E L M Vissers Jean-Philippe P Theurillat Bert B A de Vries

Am J Hum Genet 2020 03 27;106(3):405-411. Epub 2020 Feb 27.

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

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March 2020

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 2020 04 28;22(4):797-802. 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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April 2020

Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.

Authors:
Daniel L Polla Elisa Rahikkala Michaela K Bode Tuomo Määttä Teppo Varilo Thyrza Loman Anju K Philips Mitja Kurki Aarno Palotie Jarmo Körkkö Päivi Vieira Kristiina Avela Valérie Jacquemin Isabelle Pirson Marc Abramowicz Arjan P M de Brouwer Outi Kuismin Hans van Bokhoven Irma Järvelä

Eur J Hum Genet 2020 Apr;28(4):532

Department of Medical Genetics, University of Helsinki, Helsinki, Finland.

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April 2020

A de novo variant in the X-linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient.

Authors:
Daniel L Polla Harriet R Saunders Bert B A de Vries Hans van Bokhoven Arjan P M de Brouwer

Mol Genet Genomic Med 2019 10 15;7(10):e00861. Epub 2019 Aug 15.

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

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October 2019

The differential effect of clarithromycin and azithromycin on induction of macrolide resistance in .

Authors:
Jodie A Schildkraut Lian J Pennings Mike M Ruth Arjan Pm de Brouwer Heiman Fl Wertheim Wouter Hoefsloot Arjan de Jong Jakko van Ingen

Future Microbiol 2019 06 4;14:749-755. Epub 2019 Jul 4.

Department of Medical Microbiology & Radboudumc Center for Infectious Diseases, Radboud University Medical Center, Gelderland, The Netherlands.

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June 2019

Certainty-based marking in a formative assessment improves student course appreciation but not summative examination scores.

Authors:
Wiljan J A J Hendriks Nicole Bakker Helma Pluk Arjan de Brouwer Bé Wieringa Alessandra Cambi Mirjam Zegers Derick G Wansink Ron Leunissen Peter H M Klaren

BMC Med Educ 2019 May 31;19(1):178. Epub 2019 May 31.

Department of Animal Ecology and Physiology, Institute for Water and Wetland Research, Radboud University, Nijmegen, The Netherlands.

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May 2019

Pathogenic Variants in GPC4 Cause Keipert Syndrome.

Authors:
David J Amor Sarah E M Stephenson Mirna Mustapha Martin A Mensah Charlotte W Ockeloen Wei Shern Lee Rick M Tankard Dean G Phelan Marwan Shinawi Arjan P M de Brouwer Rolph Pfundt Cari Dowling Tomi L Toler V Reid Sutton Emanuele Agolini Martina Rinelli Rossella Capolino Diego Martinelli Giuseppe Zampino Miroslav Dumić William Reardon Charles Shaw-Smith Richard J Leventer Martin B Delatycki Tjitske Kleefstra Stefan Mundlos Geert Mortier Melanie Bahlo Nicola J Allen Paul J Lockhart

Am J Hum Genet 2019 05 11;104(5):914-924. Epub 2019 Apr 11.

Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia. Electronic address:

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May 2019

De novo and biallelic DEAF1 variants cause a phenotypic spectrum.

Authors:
Maria J Nabais Sá Philip J Jensik Stacey R McGee Michael J Parker Nayana Lahiri Evan P McNeil Hester Y Kroes Randi J Hagerman Rachel E Harrison Tara Montgomery Miranda Splitt Elizabeth E Palmer Rani K Sachdev Heather C Mefford Abbey A Scott Julian A Martinez-Agosto Rüdiger Lorenz Naama Orenstein Jonathan N Berg Jeanne Amiel Delphine Heron Boris Keren Jan-Maarten Cobben Leonie A Menke Elysa J Marco John M Graham Tyler Mark Pierson Ehsan Ghayoor Karimiani Reza Maroofian M Chiara Manzini Edmund S Cauley Roberto Colombo Sylvie Odent Christele Dubourg Chanika Phornphutkul Arjan P M de Brouwer Bert B A de Vries Anneke T Vulto-vanSilfhout

Genet Med 2019 09 29;21(9):2059-2069. Epub 2019 Mar 29.

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

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September 2019

Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.

Authors:
Daniel L Polla Elisa Rahikkala Michaela K Bode Tuomo Määttä Teppo Varilo Thyrza Loman Anju K Philips Mitja Kurki Aarno Palotie Jarmo Körkkö Päivi Vieira Kristiina Avela Valérie Jacquemin Isabelle Pirson Marc Abramowicz Arjan P M de Brouwer Outi Kuismin Hans van Bokhoven Irma Järvelä

Eur J Hum Genet 2019 08 26;27(8):1235-1243. Epub 2019 Mar 26.

Department of Medical Genetics, University of Helsinki, Helsinki, Finland.

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August 2019

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function.

Authors:
Xiao-Yan Wen Maja Tarailo-Graovac Koroboshka Brand-Arzamendi Anke Willems Bojana Rakic Karin Huijben Afitz Da Silva Xuefang Pan Suzan El-Rass Robin Ng Katheryn Selby Anju Mary Philip Junghwa Yun X Cynthia Ye Colin J Ross Anna M Lehman Fokje Zijlstra N Abu Bakar Britt Drögemöller Jacqueline Moreland Wyeth W Wasserman Hilary Vallance Monique van Scherpenzeel Farhad Karbassi Martin Hoskings Udo Engelke Arjan de Brouwer Ron A Wevers Alexey V Pshezhetsky Clara Dm van Karnebeek Dirk J Lefeber

JCI Insight 2018 12 20;3(24). Epub 2018 Dec 20.

Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, Netherlands.

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December 2018

Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.

Authors:
Arjan P M de Brouwer Rami Abou Jamra Nadine Körtel Clara Soyris Daniel L Polla Modi Safra Avia Zisso Christopher A Powell Pedro Rebelo-Guiomar Nadja Dinges Violeta Morin Michael Stock Mureed Hussain Mohsin Shahzad Saima Riazuddin Zubair M Ahmed Rolph Pfundt Franziska Schwarz Lonneke de Boer André Reis Detilina Grozeva F Lucy Raymond Sheikh Riazuddin David A Koolen Michal Minczuk Jean-Yves Roignant Hans van Bokhoven Schraga Schwartz

Am J Hum Genet 2018 12;103(6):1045-1052

Department of Molecular Genetics, Weizmann Institute of Science, Rehovot 76100, Israel. Electronic address:

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December 2018

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.

Authors:
Isabelle Schrauwen Hanne Valgaeren Laura Tomas-Roca Manou Sommen Umut Altunoglu Mieke Wesdorp Matthias Beyens Erik Fransen Abdul Nasir Geert Vandeweyer Anne Schepers Malika Rahmoun Ellen van Beusekom Matt J Huentelman Erwin Offeciers Ingeborg Dhooghe Alex Huber Paul Van de Heyning Diego Zanetti Els M R De Leenheer Christian Gilissen Alexander Hoischen Cor W Cremers Berit Verbist Arjan P M de Brouwer George W Padberg Ronald Pennings Hülya Kayserili Hannie Kremer Guy Van Camp Hans van Bokhoven

Genet Med 2019 05 5;21(5):1199-1208. Epub 2018 Oct 5.

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

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May 2019

Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23).

Authors:
Guido Zagnoli-Vieira Francesco Bruni Kyle Thompson Langping He Sarah Walker Arjan P M de Brouwer Robert W Taylor Dmitriy Niyazov Keith W Caldecott

Neurol Genet 2018 08 1;4(4):e262. Epub 2018 Aug 1.

Genome Damage and Stability Centre (G.Z-V., K.W.C.), University of Sussex, Falmer, Brighton, United Kingdom; Wellcome Centre for Mitochondrial Research (F.B., K.T., L.H., R.T.), Institute of Neuroscience, Newcastle University, Tyne, United Kingdom; Sussex Drug Discovery Centre (S.W.), University of Sussex, Falmer, Brighton, United Kingdom; Department of Human Genetics (A.P.M.d.B.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; and Medical Genetics (A.P.M.d.B., D.N.), Ochsner Health Center for Children, New Orleans, LA.

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August 2018

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

Authors:
Thatjana Gardeitchik Miski Mohamed Benedetta Ruzzenente Daniela Karall Sergio Guerrero-Castillo Daisy Dalloyaux Mariël van den Brand Sanne van Kraaij Ellyze van Asbeck Zahra Assouline Marlene Rio Pascale de Lonlay Sabine Scholl-Buergi David F G J Wolthuis Alexander Hoischen Richard J Rodenburg Wolfgang Sperl Zsolt Urban Ulrich Brandt Johannes A Mayr Sunnie Wong Arjan P M de Brouwer Leo Nijtmans Arnold Munnich Agnès Rötig Ron A Wevers Metodi D Metodiev Eva Morava

Am J Hum Genet 2018 04 22;102(4):685-695. Epub 2018 Mar 22.

Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA. Electronic address:

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April 2018