Denise Horn

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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

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.

J Hum Genet 2019 Jul 24;64(7):609-616. Epub 2019 Apr 24.

Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

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http://www.nature.com/articles/s10038-019-0602-8
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http://dx.doi.org/10.1038/s10038-019-0602-8DOI Listing
July 2019

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings.

Eur J Hum Genet 2019 Jul 18. Epub 2019 Jul 18.

Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.

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http://dx.doi.org/10.1038/s41431-019-0469-3DOI Listing
July 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

PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 Jun 5. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
June 2019

Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report.

BMC Med Genomics 2019 01 10;12(1). Epub 2019 Jan 10.

Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

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https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s1
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http://dx.doi.org/10.1186/s12920-018-0471-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327553PMC
January 2019

Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation.

Am J Med Genet A 2018 04;176(4):992-996

Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38635DOI Listing
April 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

Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.

Arthritis Rheumatol 2017 10 22;69(10):2081-2091. Epub 2017 Aug 22.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, and Hôpital Necker Enfants Malades, AP-HP Paris, Paris, France, and University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.

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http://dx.doi.org/10.1002/art.40179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099183PMC
October 2017

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.

Am J Med Genet A 2017 Sep 25;173(9):2534-2538. Epub 2017 Jul 25.

Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38345DOI Listing
September 2017

Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus.

Am J Med Genet A 2017 Jun 19;173(6):1694-1697. Epub 2017 Apr 19.

Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.38209
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http://dx.doi.org/10.1002/ajmg.a.38209DOI Listing
June 2017

A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6-year-old female.

Am J Med Genet A 2017 May 27;173(5):1251-1256. Epub 2017 Mar 27.

Clinics for Child and Adolescent Psychiatry of the University of Rostock, Rostock, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.38145
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http://dx.doi.org/10.1002/ajmg.a.38145DOI Listing
May 2017

Familial Gordon syndrome associated with a PIEZO2 mutation.

Am J Med Genet A 2017 Jan 7;173(1):254-259. Epub 2016 Oct 7.

Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37997DOI Listing
January 2017

BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.

Am J Med Genet A 2016 09 9;170(9):2274-81. Epub 2016 Jun 9.

Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.

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http://dx.doi.org/10.1002/ajmg.a.37798DOI Listing
September 2016

Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.

Am J Med Genet A 2016 May 29;170A(5):1202-7. Epub 2016 Jan 29.

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

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http://dx.doi.org/10.1002/ajmg.a.37560DOI Listing
May 2016

FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies.

Eur J Med Genet 2015 Aug 19;58(8):376-80. Epub 2015 Jun 19.

Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany; Max Planck Institute for Molecular Genetics, Berlin, Germany; Berlin-Brandenburg School for Regenerative Therapies (BSRT), Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.05.007DOI Listing
August 2015

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type.

J Med Genet 2015 Jul 1;52(7):476-83. Epub 2015 Jun 1.

Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany Max Planck Institute for Molecular Genetics, Berlin, Germany Berlin-Brandenburg School for Regenerative Therapies (BSRT), Berlin, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2015-103108DOI Listing
July 2015

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.

Cell 2015 May 7;161(5):1012-1025. Epub 2015 May 7.

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

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http://dx.doi.org/10.1016/j.cell.2015.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4791538PMC
May 2015

Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth.

J Biol Chem 2015 Feb 9;290(6):3349-58. Epub 2014 Dec 9.

Department of Molecular Pharmacology and Cell Biology, Leibniz-Institute for Molecular Pharmacology, 13125 Berlin, Germany.

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http://dx.doi.org/10.1074/jbc.M114.608174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4319006PMC
February 2015

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Am J Hum Genet 2014 Dec;95(6):763-70

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

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http://dx.doi.org/10.1016/j.ajhg.2014.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259972PMC
December 2014

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.

BMC Med Genet 2014 Nov 30;15:127. Epub 2014 Nov 30.

Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany.

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881
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http://dx.doi.org/10.1186/s12881-014-0127-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412025PMC
November 2014

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.

Sci Transl Med 2014 Sep;6(252):252ra123

Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany. Max Planck Institute for Molecular Genetics, Ihnestr. 63-73, 14195 Berlin, Germany. Berlin-Brandenburg Center for Regenerative Therapies, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany. Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, Takustr. 9, 14195 Berlin, Germany.

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http://dx.doi.org/10.1126/scitranslmed.3009262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4512639PMC
September 2014

De novo partial deletion in GRID2 presenting with complicated spastic paraplegia.

Muscle Nerve 2014 Feb 16;49(2):289-92. Epub 2013 Dec 16.

Department of Neurology, Campus Virchow-Klinikum, Charité - University Hospital, Charitéplatz 1, 10117, Berlin, Germany.

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http://dx.doi.org/10.1002/mus.24096DOI Listing
February 2014

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

Am J Hum Genet 2014 Feb 16;94(2):278-87. Epub 2014 Jan 16.

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

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http://www.cell.com/ajhg/pdf/S0002-9297(13)00582-X.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971300582
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http://dx.doi.org/10.1016/j.ajhg.2013.12.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928656PMC
February 2014

FOXP1 mutations cause intellectual disability and a recognizable phenotype.

Am J Med Genet A 2013 Dec 24;161A(12):3166-75. Epub 2013 Sep 24.

Hunter Genetics, Newcastle, NSW, Australia; John Hunter Children's Hospital, Newcastle, NSW, Australia.

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http://dx.doi.org/10.1002/ajmg.a.36174DOI Listing
December 2013

Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy.

Gene 2013 Jul 5;523(1):92-8. Epub 2013 Apr 5.

Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1016/j.gene.2013.03.078DOI Listing
July 2013

Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion.

Gene 2013 Jan 1;512(2):453-5. Epub 2012 Nov 1.

Department of Pediatric Neurology, Charité, Universitätsmedizin Berlin, Germany.

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http://dx.doi.org/10.1016/j.gene.2012.10.061DOI Listing
January 2013

Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance.

PLoS One 2012 18;7(4):e35062. Epub 2012 Apr 18.

Berlin Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0035062PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3329551PMC
November 2012

Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing.

Hum Mutat 2012 Apr 24;33(4):660-4. Epub 2012 Feb 24.

Institute for Vegetative Anatomy, Charité-University Medicine of Berlin, Berlin, Germany.

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http://doi.wiley.com/10.1002/humu.22042
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http://dx.doi.org/10.1002/humu.22042DOI Listing
April 2012

Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity.

J Biol Chem 2011 Oct 24;286(43):37665-75. Epub 2011 Aug 24.

Cologne Center for Genomics, Universität zu Köln, 50931 Köln, Germany.

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http://dx.doi.org/10.1074/jbc.M111.267971DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3199510PMC
October 2011

Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature.

Eur J Med Genet 2011 May-Jun;54(3):256-61. Epub 2011 Feb 17.

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

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http://dx.doi.org/10.1016/j.ejmg.2011.02.002DOI Listing
September 2011

Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.

Am J Med Genet A 2011 Aug 7;155A(8):1917-22. Epub 2011 Jul 7.

Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.34102DOI Listing
August 2011

Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.

Am J Med Genet A 2011 Apr 15;155A(4):721-4. Epub 2011 Mar 15.

Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.33905DOI Listing
April 2011

Secondary fibrosarcoma of the brain stem treated with cyclophosphamide and Imatinib.

J Neurooncol 2010 Aug 31;99(1):123-8. Epub 2009 Dec 31.

Department of Neurological Surgery, University of California, Irvine, Irvine, CA, USA.

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http://dx.doi.org/10.1007/s11060-009-0096-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2895888PMC
August 2010

Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome.

Eur J Med Genet 2010 Mar-Apr;53(2):85-8. Epub 2010 Jan 18.

Institut für Medizinische Genetik, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S176972121000005
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http://dx.doi.org/10.1016/j.ejmg.2010.01.002DOI Listing
July 2010

Analysis of relative gene dosage and expression differences of the paralogs RABL2A and RABL2B by Pyrosequencing.

Gene 2010 May 4;455(1-2):1-7. Epub 2010 Feb 4.

Leibniz Institute for Age Research-Fritz Lipmann Institute, Genome Analysis, Beutenbergstr. 11, Jena, Germany.

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http://dx.doi.org/10.1016/j.gene.2010.01.005DOI Listing
May 2010

Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications.

Am J Med Genet A 2010 Feb;152A(2):305-12

Institut für Humangenetik, Universitätsmedizin der Johannes Gutenberg-Universität Mainz, Mainz, Germany.

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http://dx.doi.org/10.1002/ajmg.a.33198DOI Listing
February 2010

Clinical diagnostics in human genetics with semantic similarity searches in ontologies.

Am J Hum Genet 2009 Oct;85(4):457-64

Institute for Medical Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1016/j.ajhg.2009.09.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2756558PMC
October 2009

Neonatal manifestation of multiple sulfatase deficiency.

Eur J Pediatr 2009 Aug 10;168(8):969-73. Epub 2008 Dec 10.

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

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http://dx.doi.org/10.1007/s00431-008-0871-2DOI Listing
August 2009

Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young.

J Clin Endocrinol Metab 2009 Jul 5;94(7):2658-64. Epub 2009 May 5.

Department of Pediatric Endocrinology and Diabetes, Charité Campus Virchow, 13353 Berlin, Germany.

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http://dx.doi.org/10.1210/jc.2008-2189DOI Listing
July 2009

A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism.

J Pediatr 2009 Jul;155(1):140-3

Department of Pediatric Neurology, Charité-University Medical Center, Berlin, Germany.

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http://dx.doi.org/10.1016/j.jpeds.2009.01.035DOI Listing
July 2009

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.

Am J Hum Genet 2008 Nov 23;83(5):610-5. Epub 2008 Oct 23.

Institute for Medical Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.

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http://dx.doi.org/10.1016/j.ajhg.2008.09.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668030PMC
November 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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http://dx.doi.org/10.1007/s00431-007-0616-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2757600PMC
August 2008

Walking the interactome for prioritization of candidate disease genes.

Am J Hum Genet 2008 Apr 27;82(4):949-58. Epub 2008 Mar 27.

Institute for Medical Genetics, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1016/j.ajhg.2008.02.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427257PMC
April 2008