Christian Netzer

Christian Netzer

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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

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

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http://dx.doi.org/10.1038/s41436-018-0368-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752317PMC
September 2019

Individualized treatment with denosumab in children with osteogenesis imperfecta - follow up of a trial cohort.

Orphanet J Rare Dis 2019 09 18;14(1):219. Epub 2019 Sep 18.

Children's Hospital, University Hospital Cologne, University of Cologne, Kerpener Straße 62, 50937, Cologne, Germany.

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http://dx.doi.org/10.1186/s13023-019-1197-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6751648PMC
September 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

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

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http://www.nature.com/articles/s41436-018-0330-z
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http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752273PMC
June 2019

Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach.

Mol Cell Probes 2019 06 23;45:84-88. Epub 2019 Mar 23.

Institute of Human Genetics, University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany.

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http://dx.doi.org/10.1016/j.mcp.2019.03.006DOI Listing
June 2019

Large-scale deletions of the gene in patients with hypoalphalipoproteinemia.

J Lipid Res 2018 08 4;59(8):1529-1535. Epub 2018 Jun 4.

Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London ON, Canada

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http://dx.doi.org/10.1194/jlr.P086280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6071767PMC
August 2018

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

Am J Hum Genet 2017 Nov;101(5):833-843

Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673623PMC
November 2017

A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.

Am J Med Genet A 2017 Aug 2;173(8):2132-2138. Epub 2017 Jun 2.

Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.38285
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http://dx.doi.org/10.1002/ajmg.a.38285DOI Listing
August 2017

CRTAP variants in early-onset osteoporosis and recurrent fractures.

Am J Med Genet A 2017 03 30;173(3):806-808. Epub 2016 Nov 30.

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.38065DOI Listing
March 2017

Osteogenesis imperfecta: pathophysiology and treatment.

Wien Med Wochenschr 2015 Jul 9;165(13-14):278-84. Epub 2015 Jun 9.

Skeletal Dysplasia Clinic, Children's Hospital, University of Cologne, Kerpenerstr. 62, 50931, Cologne, Germany,

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http://link.springer.com/content/pdf/10.1007/s10354-015-0361
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http://link.springer.com/10.1007/s10354-015-0361-x
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http://dx.doi.org/10.1007/s10354-015-0361-xDOI Listing
July 2015

Normal intelligence and premature ovarian failure in an adult female with a 7.6 Mb de novo terminal deletion of chromosome 9p.

Eur J Med Genet 2013 Aug 26;56(8):458-62. Epub 2013 Jun 26.

Institute of Human Genetics, University Medical Center Goettingen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2013.06.002DOI Listing
August 2013

To know or not to know the genomic sequence of a fetus.

Nat Rev Genet 2012 Oct 4;13(10):676-7. Epub 2012 Sep 4.

Institute of Human Genetics, University of Cologne, Kerpener Strasse 34, 50931 Cologne, Germany.

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http://dx.doi.org/10.1038/nrg3333DOI Listing
October 2012

Analysis of compound synergy in high-throughput cellular screens by population-based lifetime modeling.

PLoS One 2010 Jan 27;5(1):e8919. Epub 2010 Jan 27.

Max Planck Institute for Neurological Research with Klaus-Joachim-Zülch Laboratories of the Max Planck Society and the Medical Faculty of the University of Köln, Max Planck Society, Köln, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0008919PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2811738PMC
January 2010

An offer you can't refuse? Ethical implications of non-invasive prenatal diagnosis.

Nat Rev Genet 2009 Aug;10(8):515

Institute for History, Theory and Ethics in Medicine, RWTH Aachen University, Wendlingweg 2, 52074 Aachen, Germany.

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http://dx.doi.org/10.1038/nrg2631DOI Listing
August 2009

Commentary: No risk, no objections? Ethical pitfalls of cell-free fetal DNA and RNA testing.

BMJ 2009 Jul 6;339:b2690. Epub 2009 Jul 6.

Institute for History, Theory, and Ethics in Medicine, RWTH Aachen University, Wendlingweg 2, 52074 Aachen, Germany.

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http://dx.doi.org/10.1136/bmj.b2690DOI Listing
July 2009

New genetic evidence for involvement of the dopamine system in migraine with aura.

Hum Genet 2009 Apr 17;125(3):265-79. Epub 2009 Jan 17.

Institute of Human Genetics, University of Cologne, Germany.

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http://dx.doi.org/10.1007/s00439-009-0623-zDOI Listing
April 2009

Replication study of the insulin receptor gene in migraine with aura.

Genomics 2008 Jun 2;91(6):503-7. Epub 2008 May 2.

Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany.

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http://dx.doi.org/10.1016/j.ygeno.2008.03.006DOI Listing
June 2008

Haplotype-based systematic association studies of ATP1A2 in migraine with aura.

Am J Med Genet B Neuropsychiatr Genet 2006 Apr;141B(3):257-60

Institute of Human Genetics, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1002/ajmg.b.30283DOI Listing
April 2006

Defining the heterochromatin localization and repression domains of SALL1.

Biochim Biophys Acta 2006 Mar 6;1762(3):386-91. Epub 2006 Jan 6.

Institute of Human Genetics, University of Bonn, Wilhelmstr. 31, 53111 Bonn, Germany.

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http://dx.doi.org/10.1016/j.bbadis.2005.12.005DOI Listing
March 2006

Pharmacogenetic testing, informed consent and the problem of secondary information.

Bioethics 2004 Aug;18(4):344-60

Institut fur Humangenetik, Universitat Bonn, Germany.

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http://dx.doi.org/10.1111/j.1467-8519.2004.00401.xDOI Listing
August 2004

Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1.

Biochem Biophys Res Commun 2002 Aug;296(4):870-6

Institute of Human Genetics, University of Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.

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http://dx.doi.org/10.1016/s0006-291x(02)02003-xDOI Listing
August 2002