Publications

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Author Title [ Year(Desc)]
Filters: Author is Sobreira, Nara and Keyword is Genetic Association Studies  [Clear All Filters]
2015
Sobreira, N., Schiettecatte, F., Boehm, C., Valle, D. & Hamosh, A. 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. Hum Mutat 36, 425-31 (2015).
2016
Preuss, C. et al. Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease. PLoS Genet 12, e1006335 (2016).
Moreno, C. Araujo et al. Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. Am J Med Genet A 170, 2965-2974 (2016).
2020
Ramzan, M. et al. Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan. Sci Rep 10, 11902 (2020).