Publications by authors named "Sandra C Doelken"

16Publications

Clinical interpretation of CNVs with cross-species phenotype data.

J Med Genet 2014 Nov 3;51(11):766-772. Epub 2014 Oct 3.

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

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http://dx.doi.org/10.1136/jmedgenet-2014-102633DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4501634PMC
November 2014

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Nucleic Acids Res 2014 Jan 11;42(Database issue):D966-74. Epub 2013 Nov 11.

Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Lawrence Berkeley National Laboratory, Mail Stop 84R0171, Berkeley, CA 94720, USA, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK, Department of Medical Genetics, Cambridge University Addenbrooke's Hospital, Cambridge CB2 2QQ, UK, Université Paul Sabatier, Faculté de Chirurgie Dentaire, CHU Toulouse, France, Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK, Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester M13 9WL, UK, Institute of Genetic Medicine. Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK, Department of Computer Science, University of Toronto, Ontario, Canada, Centre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, Canada, Department of Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Leeds LS2 9NS, UK, MRC Human Genetics Unit, MRC Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK, The Jackson Laboratory, Bar Harbor, ME 04609, USA, Center for Molecular and Vascular Biology, University of Leuven, Belgium, Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus, 24105 Kiel, Germany, NE Thames Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK, Drexel University College of Medicine, Philadelphia, PA 19102, USA, Department of Haematology, University of Cambridge and NHS Blood and Transplant Cambridge, CB2 0PT Cambridge, UK, Autism and Developmental Medicine Institute, Geisinger Health System

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http://dx.doi.org/10.1093/nar/gkt1026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965098PMC
January 2014

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

Eur J Hum Genet 2014 Jun 16;22(6):726-33. Epub 2013 Oct 16.

1] Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Berlin, Germany [2] Berlin-Brandenburg School for Regenerative Therapies (BSRT), Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1038/ejhg.2013.222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023204PMC
June 2014

A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.

PLoS Genet 2013 3;9(10):e1003846. Epub 2013 Oct 3.

Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité - Universitätsmedizin Berlin, Berlin, Germany ; Berlin-Brandenburg School for Regenerative Therapies (BSRT), Charité - Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1371/journal.pgen.1003846DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3789827PMC
March 2014

Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.

J Med Genet 2013 Sep 24;50(9):579-84. Epub 2013 May 24.

Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.

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http://dx.doi.org/10.1136/jmedgenet-2013-101659DOI Listing
September 2013

Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci.

Am J Med Genet A 2013 Jan 14;161A(1):218-24. Epub 2012 Dec 14.

Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.35695DOI Listing
January 2013

Ontological phenotype standards for neurogenetics.

Hum Mutat 2012 Sep 2;33(9):1333-9. Epub 2012 Jul 2.

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

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http://dx.doi.org/10.1002/humu.22112DOI Listing
September 2012

Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.

Breast Cancer Res Treat 2012 Aug 26;134(3):1229-39. Epub 2012 Apr 26.

Institute of Human Genetics, University Hospital of Schleswig-Holstein, Christian-Albrechts-University of Kiel, Campus Kiel, Arnold-Heller-Str. 10, 24105 Kiel, Germany.

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http://dx.doi.org/10.1007/s10549-012-2050-4DOI Listing
August 2012

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

MouseFinder: Candidate disease genes from mouse phenotype data.

Hum Mutat 2012 May 16;33(5):858-66. Epub 2012 Mar 16.

Vertebrate Genomics Team, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom.

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http://doi.wiley.com/10.1002/humu.22051
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http://dx.doi.org/10.1002/humu.22051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3327758PMC
May 2012