Publications by authors named "Hans-Hilger Ropers"

100Publications

Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders.

Neuropediatrics 2020 02 18;51(1):72-75. Epub 2019 Oct 18.

Charité-Universitätsmedizin Berlin, Klinik für Pädiatrie mit Schwerpunkt Neurologie, Augustenburger Platz 1, Berlin, Germany.

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February 2020

Homozygous variants in the gene SCAPER cause syndromic intellectual disability.

Am J Med Genet A 2019 07 9;179(7):1214-1225. Epub 2019 May 9.

Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.

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July 2019

CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability.

Am J Med Genet B Neuropsychiatr Genet 2018 12 18;177(8):691-699. Epub 2018 Nov 18.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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December 2018

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

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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March 2015

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.

Hum Mol Genet 2014 Dec 1;23(23):6163-76. Epub 2014 Jul 1.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen N DK-2200, Denmark,

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December 2014

Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations.

Cell Cycle 2014 1;13(10):1650-1. Epub 2014 Apr 1.

Department of Pediatric Neurology; Charité University Medicine Berlin; Berlin, Germany; Institute of Cell Biology and Neurobiology; Charité University Medicine Berlin; Berlin, Germany.

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February 2016

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

Am J Med Genet A 2013 Dec 16;161A(12):3063-71. Epub 2013 Aug 16.

Service de Génétique and Centre de Référence des Anomalies du Développement, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Lyon, France; INSERM U1028, CNRS, UMR5292, Lyon Neuroscience Research Center, TIGER Team, University Claude Bernard Lyon 1, Université de Lyon, Lyon, France.

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December 2013

On the future of genetic risk assessment.

J Community Genet 2012 Jul 1;3(3):229-36. Epub 2012 Apr 1.

Max Planck Institute for Molecular Genetics, Ihnestr. 73, 14195, Berlin, Germany,

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July 2012

Genetics of early onset cognitive impairment.

Annu Rev Genomics Hum Genet 2010 ;11:161-87

Max Planck Institute for Molecular Genetics, Berlin, Germany.

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September 2010

Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.

Eur J Pediatr 2010 Dec 27;169(12):1535-9. Epub 2010 Jul 27.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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December 2010

TRPV1 acts as a synaptic protein and regulates vesicle recycling.

J Cell Sci 2010 Jun 18;123(Pt 12):2045-57. Epub 2010 May 18.

Signal Transduction in Pain and Mental Retardation, Department for Molecular Human Genetics, Max-Planck Institute for Molecular Genetics, Berlin, Germany.

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June 2010

Single gene disorders come into focus--again.

Dialogues Clin Neurosci 2010 ;12(1):95-102

Max Planck Institute for Molecular Genetics, Berlin, Germany.

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April 2010

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

Am J Hum Genet 2008 May 10;82(5):1165-70. Epub 2008 Apr 10.

Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark.

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May 2008

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

Eur J Hum Genet 2008 Mar 9;16(3):312-9. Epub 2008 Jan 9.

Department of Medical Genetics, Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, Denmark.

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March 2008

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia.

Hum Mol Genet 2008 Feb 6;17(3):458-65. Epub 2007 Nov 6.

Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK.

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February 2008

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

Eur J Pediatr 2008 Aug 12;167(8):903-8. Epub 2007 Oct 12.

Institute of Medical Genetics, Charité Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany.

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August 2008

New perspectives for the elucidation of genetic disorders.

Am J Hum Genet 2007 Aug 29;81(2):199-207. Epub 2007 Jun 29.

Max Planck Institute for Molecular Genetics, Berlin, Germany.

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August 2007

Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome.

Eur J Hum Genet 2007 Jun 28;15(6):711-3. Epub 2007 Mar 28.

Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, The Panum Institute, University of Copenhagen, Blegdamsvej 3, 2200 KBH N Copenhagen, Denmark.

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June 2007

Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.

Eur J Hum Genet 2006 Dec 9;14(12):1274-9. Epub 2006 Aug 9.

Institute of Medical Genetics, Charité Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.

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December 2006

X-linked mental retardation: many genes for a complex disorder.

Curr Opin Genet Dev 2006 Jun 2;16(3):260-9. Epub 2006 May 2.

Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73, D-14195 Berlin, Germany.

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June 2006

A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.

Am J Med Genet A 2006 Apr;140(8):873-7

Institute of Medical Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.

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April 2006