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Human Mutation|July 30, 2015
GeneMatcher: a matching tool for connecting investigators with an interest in the same geneNara Sobreira, François Schiettecatte, David Valle, et al.
Human Mutation|February 17, 2015
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 geneNara Sobreira, François Schiettecatte, Corinne Boehm, et al.
Human Mutation|December 31, 2013
DIAMUND: direct comparison of genomes to detect mutationsSteven L Salzberg, Mihaela Pertea, Jill A Fahrner, et al.
World Journal of Gastrointestinal Pharmacology and Therapeutics|September 21, 2020
Role of telomere shortening in anticipation of inflammatory bowel diseaseBrindusa Truta, Elizabeth Wohler, Nara Sobreira, et al.
Gene|April 28, 2019
Bi-allelic Pro291Leu variant in KCNQ4 leads to early onset non-syndromic hearing lossMemoona Ramzan, Hafiza Idrees, Ghulam Mujtaba, et al.
American Journal of Medical Genetics. Part A|March 4, 2023
Venous malformation may be a feature of EXT1-related hereditary multiple exostoses: A report of two unrelated probandsDaniah Albokhari, Christopher R Bailey, Francis Hwang, et al.
Scientific Reports|July 19, 2020
Spectrum of genetic variants in moderate to severe sporadic hearing loss in PakistanMemoona Ramzan, Rasheeda Bashir, Midhat Salman, et al.
Journal of Ophthalmology|August 18, 2018
Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic AnalysisRobert A Sisk, Robert B Hufnagel, Ailee Laham, et al.
Human Mutation|February 5, 2013
PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic featuresAda Hamosh, Nara Sobreira, Julie Hoover-Fong, et al.
European Journal of Human Genetics : EJHG|February 18, 2018
Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndromeCarolina Araujo Moreno, Nara Sobreira, Elizabeth Pugh, et al.
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