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Substantial Cardiovascular Morbidity in Adults With Lower-Complexity Congenital Heart Disease.
Circulation. 2019 Apr 16;139(16):1889-1899. doi: 10.1161/CIRCULATIONAHA.118.037064.
Circulation. 2019.
PMID: 30813762
Free PMC article.
Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts.
Helle E, Córdova-Palomera A, Ojala T, Saha P, Potiny P, Gustafsson S, Ingelsson E, Bamshad M, Nickerson D, Chong JX; University of Washington Center for Mendelian Genomics; Ashley E, Priest JR.
Helle E, et al. Among authors: potiny p.
Genet Epidemiol. 2019 Mar;43(2):215-226. doi: 10.1002/gepi.22176. Epub 2018 Dec 4.
Genet Epidemiol. 2019.
PMID: 30511478
Free PMC article.
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A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population.
Tcheandjieu C, Aguirre M, Gustafsson S, Saha P, Potiny P, Haendel M, Ingelsson E, Rivas MA, Priest JR.
Tcheandjieu C, et al. Among authors: potiny p.
PLoS Genet. 2020 Nov 23;16(11):e1008802. doi: 10.1371/journal.pgen.1008802. eCollection 2020 Nov.
PLoS Genet. 2020.
PMID: 33226994
Free PMC article.
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