Publications
Filters: Author is Valle, David [Clear All Filters]
Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genet Med. 2022 ;24(4):784-797.
. The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A. 2012 ;158A(7):1523-5.
. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet. 2015 ;97(2):199-215.
. IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease. Hum Genet. 2021 ;140(9):1299-1312.
. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 ;21(4):798-812.
. PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features. Hum Mutat. 2013 ;34(4):566-71.
. PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data. Orphanet J Rare Dis. 2021 ;16(1):365.
. Prepublication data sharing. Nature. 2009 ;461(7261):168-70.
. Response to Biesecker et al. Am J Hum Genet. 2021 ;108(9):1807-1808.
. TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. Genet Med. 2019 ;21(7):1548-1558.
. Variant-level matching for diagnosis and discovery: Challenges and opportunities. Hum Mutat. 2022 ;43(6):782-790.
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