Publications by authors named "Sandra Doelken"

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Automatic concept recognition using the human phenotype ontology reference and test suite corpora.
Tudor Groza, Sebastian Köhler, Sandra Doelken, Nigel Collier, Anika Oellrich

Database (Oxford)· September 2015

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Clinical interpretation of CNVs with cross-species phenotype data.
Sebastian Köhler, Uwe Schoeneberg, Johanna Christina Czeschik, Sandra C Doelken, Jayne Y Hehir-Kwa

J Med Genet· November 2014

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Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.
Tomasz Zemojtel, Sebastian Köhler, Luisa Mackenroth, Marten Jäger, Jochen Hecht, Sandra Doelken

Sci Transl Med· September 2014

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Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.
Naeimeh Tayebi, Aleksander Jamsheer, Ricarda Flöttmann, Anna Sowinska-Seidler, Sandra C Doelken

Orphanet J Rare Dis· July 2014

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Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.
Luitgard M Graul-Neumann, Alexandra Deichsel, Ulrike Wille, Naseebullah Kakar, Randi Koll, Sandra C Doelken

Eur J Hum Genet· June 2014

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A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.
Elisa Degenkolbe, Jana König, Julia Zimmer, Maria Walther, Carsten Reißner, Sandra C Doelken

PLoS Genet· March 2014

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Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research.
Sebastian Köhler, Sandra C Doelken, Barbara J Ruef, Sebastian Bauer, Nicole Washington

F1000Res· February 2014

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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
Sebastian Köhler, Sandra C Doelken, Christopher J Mungall, Sebastian Bauer, Helen V Firth

Nucleic Acids Res· January 2014

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Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations.
Daniel M Ibrahim, Peter Hansen, Christian Rödelsperger, Asita C Stiege, Sandra C Doelken

Genome Res· December 2013

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Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.
Aleksander Jamsheer, Tomasz Zemojtel, Mateusz Kolanczyk, Sigmar Stricker, Jochen Hecht, Sandra C Doelken

J Med Genet· September 2013

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Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project.
William S Oetting, Peter N Robinson, Marc S Greenblatt, Richard G Cotton, Tim Beck, Sandra C Doelken

Hum Mutat· April 2013

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Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish.
Sandra C Doelken, Sebastian Köhler, Christopher J Mungall, Georgios V Gkoutos, Barbara J Ruef

Dis Model Mech· March 2013

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Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci.
Sandra C Doelken, Karl Seeger, Patrick Hundsdoerfer, Wencke Weber-Ferro, Eva Klopocki

Am J Med Genet A· January 2013

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Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance.
Julia Zimmer, Sandra C Doelken, Denise Horn, Jay C Groppe, Eileen M Shore

PLoS One· November 2012

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Ontological phenotype standards for neurogenetics.
Sebastian Köhler, Sandra C Doelken, Ana Rath, Ségolène Aymé, Peter N Robinson

Hum Mutat· September 2012

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Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.
Simone Heidemann, Christine Fischer, Christoph Engel, Barbara Fischer, Lana Harder, Sandra C Doelken

Breast Cancer Res Treat· August 2012

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MouseFinder: Candidate disease genes from mouse phenotype data.
Chao-Kung Chen, Christopher J Mungall, Georgios V Gkoutos, Sandra C Doelken, Sebastian Köhler

Hum Mutat· May 2012

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Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.
Eva Klopocki, Silke Lohan, Sandra C Doelken, Sigmar Stricker, Charlotte W Ockeloen

J Med Genet· February 2012

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Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein.
Gao Guo, Petra Gehle, Sandra Doelken, José Luis Martin-Ventura, Yskert von Kodolitsch

PLoS One· September 2011

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Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
Peter M Krawitz, Michal R Schweiger, Christian Rödelsperger, Carlo Marcelis, Uwe Kölsch, Sandra Doelken

Nat Genet· October 2010

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