Author details

Full Name

Sandra C Doelken

Affiliation

Institute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin

ORCID

Career Start Year

2010

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
25725061	Automatic concept recognition using the human phenotype ontology reference and test suite corpora.	Database (Oxford)	2015
24217912	The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.	Nucleic Acids Res	2014
25231166	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.	Orphanet J Rare Dis	2014
25280750	Clinical interpretation of CNVs with cross-species phenotype data.	J Med Genet	2014
25186178	Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.	Sci Transl Med	2014
24456159	Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.	Clin Genet	2014
24129431	Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.	Eur J Hum Genet	2014
23104991	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.	Dis Model Mech	2013
24098149	A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.	PLoS Genet	2013
23995701	Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations.	Genome Res	2013
23709756	Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.	J Med Genet	2013
23401191	Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project.	Hum Mutat	2013
23239641	Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci.	Am J Med Genet A	2013
22147889	Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.	J Med Genet	2012
22535016	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
22529972	Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance.	PLoS One	2012
22573485	Ontological phenotype standards for neurogenetics.	Hum Mutat	2012
22331800	MouseFinder: Candidate disease genes from mouse phenotype data.	Hum Mutat	2012
21647416	Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein.	PLoS One	2011
20802478	Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.	Nat Genet	2010

1 - 20 of 20

Irene Valenzuela

Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari

Career Start Year 2013

Number of shared co-authors 8

Carolyn D Applegate

Johns Hopkins University School of Medicine

Career Start Year 2012

Number of shared co-authors 3

Zeynep Coban Akdemir

Baylor College of Medicine

Career Start Year 2012

Number of shared co-authors 9

Jessica X Chong

Brotman Baty Institute for Precision Medicine, University of Washington

Career Start Year 2011

Number of shared co-authors 15

Francesca Clementina Radio

Ospedale Pediatrico Bambino Gesu IRCCS

Career Start Year 2009

Number of shared co-authors 6

Lijia Huang

Children's Hospital of Eastern Ontario (CHEO)

Career Start Year 2008

Number of shared co-authors 12

Angela Del Pozo

Instituto de Genetica Medica y Molecular (INGEMM), Hospital Universitario La Paz

Career Start Year 2008

Number of shared co-authors 2

Shalini N Jhangiani

Baylor College of Medicine

Career Start Year 2007

Number of shared co-authors 10

Nara Sobreira

Johns Hopkins University

Career Start Year 2006

Number of shared co-authors 15

Kaya Bilguvar

Acibadem Mehmet Ali Aydinlar University

Career Start Year 2005

Number of shared co-authors 5

Jennifer E Posey

Baylor College of Medicine

Career Start Year 2004

Number of shared co-authors 15

Santhosh Girirajan

The Huck Institutes of Life Sciences, University Park, Pennsylvania State University

Career Start Year 2003

Number of shared co-authors 4

Richard Holt

Oxford Brookes University

Career Start Year 2003

Number of shared co-authors 3

Michael A Simpson

King's College London

Career Start Year 2002

Number of shared co-authors 12

Dominik Seelow

Berliner Institut fur Gesundheitsforschung - Charite

Career Start Year 2002

Number of shared co-authors 26

Fowzan S Alkuraya

King Faisal Specialist Hospital and Research Center

Career Start Year 2001

Number of shared co-authors 25

Francesca Mari

Institute de Pathologie et de Genetique ASBL

Career Start Year 2000

Number of shared co-authors 10

Dragana Josifova

Guy's and St Thomas' Hospital

Career Start Year 2000

Number of shared co-authors 17

Alistair T Pagnamenta

NIHR Biomedical Research Centre, University of Oxford

Career Start Year 1999

Number of shared co-authors 15

Bridget A Fernandez

Memorial University of Newfoundland

Career Start Year 1999

Number of shared co-authors 11

Andrew E Timms

Center for Integrative Brain Research, Seattle Children's Research Institute

Career Start Year 1998

Number of shared co-authors 3

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 32

Nicholas Katsanis

Northwestern University

Career Start Year 1995

Number of shared co-authors 9

Anne Slavotinek

Cincinnati Children's Hospital Medical Center

Career Start Year 1993

Number of shared co-authors 17

Stanley F Nelson

university of california los angeles

Career Start Year 1993

Number of shared co-authors 9

Kenjiro Kosaki

Center for Medical Genetics, Keio University School of Medicine

Career Start Year 1991

Number of shared co-authors 20

Stephen W Scherer

The Hospital for Sick Children

Career Start Year 1990

Number of shared co-authors 19

Leslie G Biesecker

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1987

Number of shared co-authors 16

Siddharth Banka

University of Manchester

Career Start Year 1986

Number of shared co-authors 22

Thomas Meitinger

Technical University of Munich, Institute of Human Genetics

Career Start Year 1982

Number of shared co-authors 13

row(s) 1 - 30 of 30

Peter N Robinson

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 11

Stefan Mundlos

Max Planck Institute for Molecular Genetics

Co-authored papers 9

Sebastian K??hler

Division of Emergency Medicine University of Calgary Calgary Alberta Canada.

Co-authored papers 8

Damian Smedley

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 7

Eva Klopocki

Institute for Human Genetics, University of Wurzburg

Co-authored papers 6

Denise Horn

Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin

Co-authored papers 5

Jochen Hecht

The Barcelona Institute of Science and Technology

Co-authored papers 4

Christopher J Mungall

International Society for Biocuration, Lawrence Berkeley National Laboratory, University of Edinburgh, University of Edinburgh School of Biological Sciences

Co-authored papers 4

Cynthia L Smith

Skirball Institute for Biomolecular Medicine, New York University Medical School

Co-authored papers 4

Peter M Krawitz

Institute for Genomic Statistics and Bioinformatics, University of Bonn

Co-authored papers 4

Suzanna E Lewis

Lawrence Berkeley National Laboratory

Co-authored papers 4

Paul N Schofield

University of Cambridge

Co-authored papers 4

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 3

Barbara J Ruef

Texas A&M University, College Station 77843-1114

Co-authored papers 3

Malte Spielmann

Max Planck Institute for Molecular Genetics

Co-authored papers 3

Monte Westerfield

Institute of Neuroscience, University of Oregon

Co-authored papers 3

Georgios V Gkoutos

Institute of Cancer and Genomic Sciences, University of Birmingham