François Schiettecatte
ABS Consulting (United States)(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Cancer Genomics and Diagnostics, Genomic variations and chromosomal abnormalities, Biomedical Text Mining and Ontologies, Genetics, Bioinformatics, and Biomedical Research
Most-Cited Works
- → OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders(2014)2,616 cited
- → GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene(2015)1,537 cited
- → The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery(2015)482 cited
- → New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene(2015)180 cited
- → P heno DB : A New Web‐Based Tool for the Collection, Storage, and Analysis of Phenotypic Features(2013)68 cited
- → Matchmaker Exchange(2017)63 cited
- → The Matchmaker Exchange API: Automating Patient Matching Through the Exchange of Structured Phenotypic and Genotypic Profiles(2015)56 cited
- → Assessment of incidental findings in 232 whole-exome sequences from the Baylor–Hopkins Center for Mendelian Genomics(2015)49 cited
- → Exploring Genes and Phenotypes Within Chromosomal Regions Using OMIM's GeneScout(2022)5 cited
- → WAIS over Z39.50-1988(1994)3 cited