Monday Lecture Series
(open to the Rockefeller community)
Monday, February 14, 2022
Richard P. Lifton, M.D., Ph.D.
President
Carson Family Professor
Head of the Laboratory of Human Genetics and Genomics
Rockefeller University
New Insights into Human Disease from Genomics: Progress and Prospects for Therapeutics
Recommended Readings:
Empirical Articles
Morton, S. U., Pereira, A. C., Quiat, D., Richter, F., Kitaygorodsky, A., Hagen, J., Bernstein, D., Brueckner, M., Goldmuntz, E., Kim, R. W., Lifton, R. P., Porter, G. A., Jr, Tristani-Firouzi, M., Chung, W. K., Roberts, A., Gelb, B. D., Shen, Y., Newburger, J. W., Seidman, J. G., & Seidman, C. E. (2022). Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity. Circulation. Genomic and precision medicine, CIRCGEN121003500.
Calpena, E., Wurmser, M., McGowan, S. J., Atique, R., Bertola, D. R., Cunningham, M. L., Gustafson, J. A., Johnson, D., Morton, J., Passos-Bueno, M. R., Timberlake, A. T., Lifton, R. P., Wall, S. A., Twigg, S., Maire, P., & Wilkie, A. (2022). Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders. Journal of medical genetics, 59(2), 165–169.
Drzewiecki K, Choi J, Brancale J, Leney-Greene MA, Sari S, Dalgiç B, Ünlüsoy Aksu A, Evirgen Şahin G, Ozen A, Baris S, Karakoc-Aydiner E, Jain D, Kleiner D, Schmalz M, Radhakrishnan K, Zhang J, Hoebe K, Su HC, Pereira JP, Lenardo MJ, Lifton RP, Vilarinho S. (2021). GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension. The Journal of experimental medicine, 218(7), e20201745.
Seidel, E., Schewe, J., Zhang, J., Dinh, H. A., Forslund, S. K., Markó, L., Hellmig, N., Peters, J., Muller, D. N., Lifton, R. P., Nottoli, T., Stölting, G., & Scholl, U. I. (2021). Enhanced Ca2+ signaling, mild primary aldosteronism, and hypertension in a familial hyperaldosteronism mouse model (Cacna1hM1560V/+ ). Proceedings of the National Academy of Sciences of the United States of America, 118(17), e2014876118.
Weng PL, Majmundar AJ, Khan K, Lim TY, Shril S, Jin G, Musgrove J, Wang M, Ahram DF, Aggarwal VS, Bier LE, Heinzen EL, Onuchic-Whitford AC, Mann N, Buerger F, Schneider R, Deutsch K, Kitzler TM, Klämbt V, Kolb A, Mao Y, Moufawad El Achkar C, Mitrotti A, Martino J, Beck BB, Altmüller J, Benz MR, Yano S, Mikati MA, Gunduz T, Cope H, Shashi V; Undiagnosed Diseases Network, Trachtman H, Bodria M, Caridi G, Pisani I, Fiaccadori E, AbuMaziad AS, Martinez-Agosto JA, Yadin O, Zuckerman J, Kim A; UCLA Clinical Genomics Center, John-Kroegel U, Tyndall AV, Parboosingh JS, Innes AM, Bierzynska A, Koziell AB, Muorah M, Saleem MA, Hoefele J, Riedhammer KM, Gharavi AG, Jobanputra V, Pierce-Hoffman E, Seaby EG, O’Donnell-Luria A, Rehm HL, Mane S, D’Agati VD, Pollak MR, Ghiggeri GM, Lifton RP, Goldstein DB, Davis EE, Hildebrandt F, Sanna-Cherchi S. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. American journal of human genetics, 108(2), 357–367.
Jin SC, Dong W, Kundishora AJ, Panchagnula S, Moreno-De-Luca A, Furey CG, Allocco AA, Walker RL, Nelson-Williams C, Smith H, Dunbar A, Conine S, Lu Q, Zeng X, Sierant MC, Knight JR, Sullivan W, Duy PQ, DeSpenza T, Reeves BC, Karimy JK, Marlier A, Castaldi C, Tikhonova IR, Li B, Peña HP, Broach JR, Kabachelor EM, Ssenyonga P, Hehnly C, Ge L, Keren B, Timberlake AT, Goto J, Mangano FT, Johnston JM, Butler WE, Warf BC, Smith ER, Schiff SJ, Limbrick DD Jr, Heuer G, Jackson EM, Iskandar BJ, Mane S, Haider S, Guclu B, Bayri Y, Sahin Y, Duncan CC, Apuzzo MLJ, DiLuna ML, Hoffman EJ, Sestan N, Ment LR, Alper SL, Bilguvar K, Geschwind DH, Günel M, Lifton RP, Kahle KT. (2020). Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus. Nature medicine, 26(11), 1754–1765.
