Alexander Hoischen

Alexander Hoischen

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Alexander Hoischen

Alexander Hoischen

Publications by authors named "Alexander Hoischen"

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Insufficient evidence for a role of SERPINF1 in otosclerosis.

Mol Genet Genomics 2019 Aug 9;294(4):1001-1006. Epub 2019 Apr 9.

Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Universiteitsplein 1, Wilrijk, 2610, Antwerp, Belgium.

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http://dx.doi.org/10.1007/s00438-019-01558-8DOI Listing
August 2019

Postzygotic mosaicism in cerebral cavernous malformation.

J Med Genet 2019 Aug 24. Epub 2019 Aug 24.

Department of Human Genetics, University Medicine Greifswald, Greifswald, Germany

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http://dx.doi.org/10.1136/jmedgenet-2019-106182DOI Listing
August 2019

Long-Read Sequencing Emerging in Medical Genetics.

Front Genet 2019 7;10:426. Epub 2019 May 7.

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

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http://dx.doi.org/10.3389/fgene.2019.00426DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6514244PMC
May 2019

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.

Alzheimers Dement 2018 12 13;14(12):1632-1639. Epub 2018 Aug 13.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.jalz.2018.06.3056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6544509PMC
December 2018

Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life.

Am J Hum Genet 2017 Jul 29;101(1):50-64. Epub 2017 Jun 29.

Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.05.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501773PMC
July 2017

Quantification of differential gene expression by multiplexed targeted resequencing of cDNA.

Nat Commun 2017 05 5;8:15190. Epub 2017 May 5.

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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http://dx.doi.org/10.1038/ncomms15190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5424154PMC
May 2017

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Sci Rep 2017 04 25;7:46105. Epub 2017 Apr 25.

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

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http://dx.doi.org/10.1038/srep46105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5404330PMC
April 2017

MST1R mutation as a genetic cause of Lady Windermere syndrome.

Eur Respir J 2017 01 18;49(1). Epub 2017 Jan 18.

Dept of Internal Medicine, Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, The Netherlands

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http://dx.doi.org/10.1183/13993003.01478-2016DOI Listing
January 2017

New insights into the generation and role of de novo mutations in health and disease.

Genome Biol 2016 11 28;17(1):241. Epub 2016 Nov 28.

Department of Human Genetics, Donders Institute of Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1186/s13059-016-1110-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5125044PMC
November 2016

RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data.

Bioinformatics 2016 10 10;32(19):3018-20. Epub 2016 Jun 10.

Department of Clinical Science, University of Bergen, Bergen 5020, Norway Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen 5021, Norway.

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http://dx.doi.org/10.1093/bioinformatics/btw359DOI Listing
October 2016

Immunologic defects in severe mucocutaneous HSV-2 infections: Response to IFN-γ therapy.

J Allergy Clin Immunol 2016 09 7;138(3):895-898. Epub 2016 Apr 7.

Department of Internal Medicine, and RadboudUMC Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.02.025DOI Listing
September 2016

Parent-of-origin-specific signatures of de novo mutations.

Nat Genet 2016 08 20;48(8):935-9. Epub 2016 Jun 20.

Inova Translational Medicine Institute (ITMI), Inova Health Systems, Falls Church, Virginia, USA.

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http://dx.doi.org/10.1038/ng.3597DOI Listing
August 2016

Progressive multifocal leukoencephalopathy in an immunocompetent patient.

Ann Clin Transl Neurol 2016 03 8;3(3):226-32. Epub 2016 Jan 8.

Department of Neurology Radboud University Medical Center Nijmegen The Netherlands; Department of Neurology VU University Medical Center Amsterdam The Netherlands.

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http://dx.doi.org/10.1002/acn3.279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774259PMC
March 2016

LRP5 variants may contribute to ADPKD.

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

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

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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https://clinicforspecialchildren.org/wp-content/uploads/2015
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation.

Am J Hum Genet 2015 Jul 6;97(1):67-74. Epub 2015 Jun 6.

Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute of Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2015.05.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4571017PMC
July 2015

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

Hum Mol Genet 2015 Apr 11;24(7):2000-10. Epub 2014 Dec 11.

Women's and Children's Health Research Institute, North Adelaide and Discipline of Medicine, School of Paediatrics and Reproductive Health, Robinson Research Institute and, School of Molecular and Biomedical Sciences, The University of Adelaide, Adelaide, SA, Australia,

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http://hmg.oxfordjournals.org/content/early/2015/01/07/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu614
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http://dx.doi.org/10.1093/hmg/ddu614DOI Listing
April 2015

Early presentation of cystic kidneys in a family with a homozygous INVS mutation.

Am J Med Genet A 2014 Jul 26;164A(7):1627-34. Epub 2014 Mar 26.

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.36501DOI Listing
July 2014

Cantú syndrome resulting from activating mutation in the KCNJ8 gene.

Hum Mutat 2014 Jul 6;35(7):809-13. Epub 2014 May 6.

Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1002/humu.22555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4277879PMC
July 2014

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

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.

Eur J Hum Genet 2014 Jun 6;22(6):844-6. Epub 2013 Nov 6.

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

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http://dx.doi.org/10.1038/ejhg.2013.249DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023223PMC
June 2014

Prioritization of neurodevelopmental disease genes by discovery of new mutations.

Nat Neurosci 2014 Jun 27;17(6):764-72. Epub 2014 May 27.

1] Department of Genome Sciences, University of Washington, Seattle, Washington, USA. [2] Howard Hughes Medical Institute, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/nn.3703DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4077789PMC
June 2014

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

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

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

Shotgun metagenomic data reveals significant abundance but low diversity of "Candidatus Scalindua" marine anammox bacteria in the Arabian Sea oxygen minimum zone.

Front Microbiol 2014 5;5:31. Epub 2014 Feb 5.

Department of Microbiology, IWWR, Radboud University Nijmegen Nijmegen, Netherlands ; Department of Biotechnology, Delft University of Technology Delft, Netherlands.

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http://dx.doi.org/10.3389/fmicb.2014.00031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3913995PMC
February 2014

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis.

Mol Genet Genomic Med 2013 Nov 19;1(4):223-37. Epub 2013 Aug 19.

Center for Molecular Medicine Cologne (CMMC), University of Cologne 50931, Cologne, Germany ; Institute of Human Genetics, University of Cologne 50931, Cologne, Germany ; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne 50931, Cologne, Germany.

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http://dx.doi.org/10.1002/mgg3.28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865590PMC
November 2013

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.

Brain 2013 May 18;136(Pt 5):1544-54. Epub 2013 Apr 18.

Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, Laboratory for Genetic, Endocrine, and Metabolic Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/brain/awt086DOI Listing
May 2013

A novel marine nitrite-oxidizing Nitrospira species from Dutch coastal North Sea water.

Front Microbiol 2013 18;4:60. Epub 2013 Mar 18.

Department of Microbiology, Institute for Water and Wetland Research, Radboud University Nijmegen Nijmegen, Netherlands.

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http://dx.doi.org/10.3389/fmicb.2013.00060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3600790PMC
March 2013

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