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Genetics of cardiac repolarization.
Shah SH, Pitt GS. Shah SH, et al. Among authors: pitt gs. Nat Genet. 2009 Apr;41(4):388-9. doi: 10.1038/ng0409-388. Nat Genet. 2009. PMID: 19338079
The S1103Y cardiac sodium channel variant is associated with implantable cardioverter-defibrillator events in blacks with heart failure and reduced ejection fraction.
Sun AY, Koontz JI, Shah SH, Piccini JP, Nilsson KR Jr, Craig D, Haynes C, Gregory SG, Hranitzky PM, Pitt GS. Sun AY, et al. Among authors: pitt gs. Circ Cardiovasc Genet. 2011 Apr;4(2):163-8. doi: 10.1161/CIRCGENETICS.110.958652. Epub 2011 Apr 15. Circ Cardiovasc Genet. 2011. PMID: 21498565 Free PMC article.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Among authors: pitt gs. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. Genet Med. 2021. PMID: 34163037 Free PMC article.
Calcium influx through L-type CaV1.2 Ca2+ channels regulates mandibular development.
Ramachandran KV, Hennessey JA, Barnett AS, Yin X, Stadt HA, Foster E, Shah RA, Yazawa M, Dolmetsch RE, Kirby ML, Pitt GS. Ramachandran KV, et al. Among authors: pitt gs. J Clin Invest. 2013 Apr;123(4):1638-46. doi: 10.1172/JCI66903. Epub 2013 Mar 15. J Clin Invest. 2013. PMID: 23549079 Free PMC article.
121 results