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SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families.
Cornejo-Sanchez DM, Acharya A, Bharadwaj T, Marin-Gomez L, Pereira-Gomez P, Nouel-Saied LM, University Of Washington Center For Mendelian Genomics, Nickerson DA, Bamshad MJ, Mefford HC, Schrauwen I, Carrizosa-Moog J, Cornejo-Ochoa W, Pineda-Trujillo N, Leal SM. Cornejo-Sanchez DM, et al. Among authors: leal sm. Genes (Basel). 2022 Apr 25;13(5):754. doi: 10.3390/genes13050754. Genes (Basel). 2022. PMID: 35627139 Free PMC article.
Genetic and physiologic analysis of the role of uncoupling protein 3 in human energy homeostasis.
Chung WK, Luke A, Cooper RS, Rotini C, Vidal-Puig A, Rosenbaum M, Chua M, Solanes G, Zheng M, Zhao L, LeDuc C, Eisberg A, Chu F, Murphy E, Schreier M, Aronne L, Caprio S, Kahle B, Gordon D, Leal SM, Goldsmith R, Andreu AL, Bruno C, DiMauro S, Leibel RL, et al. Chung WK, et al. Among authors: leal sm. Diabetes. 1999 Sep;48(9):1890-5. doi: 10.2337/diabetes.48.9.1890. Diabetes. 1999. PMID: 10480626 Free PMC article. Clinical Trial.
Multi-omic studies on missense PLG variants in families with otitis media.
Bootpetch TC, Hafrén L, Elling CL, Baschal EE, Manichaikul AW, Pine HS, Szeremeta W, Scholes MA, Cass SP, Larson ED, Chan KH, Ishaq R, Prager JD, Shaikh RS, Gubbels SP, Yousaf A; University of Washington Center for Mendelian Genomics (UW-CMG); Wine TM, Bamshad MJ, Yoon PJ, Jenkins HA, Nickerson DA, Streubel SO, Friedman NR, Frank DN, Einarsdottir E, Kere J, Riazuddin S, Daly KA, Leal SM, Ryan AF, Mattila PS, Ahmed ZM, Sale MM, Chonmaitree T, Santos-Cortez RLP. Bootpetch TC, et al. Among authors: leal sm. Sci Rep. 2020 Sep 14;10(1):15035. doi: 10.1038/s41598-020-70498-w. Sci Rep. 2020. PMID: 32929111 Free PMC article.
Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, Gravel S, McGee S, Do R, Liu X, Jun G, Kang HM, Jordan D, Leal SM, Gabriel S, Rieder MJ, Abecasis G, Altshuler D, Nickerson DA, Boerwinkle E, Sunyaev S, Bustamante CD, Bamshad MJ, Akey JM; Broad GO; Seattle GO; NHLBI Exome Sequencing Project. Tennessen JA, et al. Among authors: leal sm. Science. 2012 Jul 6;337(6090):64-9. doi: 10.1126/science.1219240. Epub 2012 May 17. Science. 2012. PMID: 22604720 Free PMC article.
402 results