A Triple Mutation of BetaB2-Crystallin is Necessary to Develop Cataract and Glaucoma

por Rübsam, Anne, Dulle, Jennifer E, Garnai, Sarah J, Pawar, Hermant S, Fort, Patrice E
Publicado 2017

Congenital cataracts: de novo gene conversion event in CRYBB2

por Garnai, Sarah J., Huyghe, Jeroen R., Reed, David M., Scott, Kathleen M., Liebmann, Jeffrey M., Boehnke, Michael, Richards, Julia E., Ritch, Robert, Pawar, Hemant
Publicado 2014

Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort

por Prasov, Lev, Guan, Bin, Ullah, Ehsan, Archer, Steven M., Ayres, Bernadete M., Besirli, Cagri G., Wiinikka-Buesser, Laurel, Comer, Grant M., Del Monte, Monte A., Elner, Susan G., Garnai, Sarah J., Huryn, Laryssa A., Johnson, Kayla, Kamat, Shivani S., Lieu, Philip, Mian, Shahzad I., Rygiel, Christine A., Serpen, Jasmine Y., Pawar, Hemant S., Brooks, Brian P., Moroi, Sayoko E., Richards, Julia E., Hufnagel, Robert B.
Publicado 2020

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice

por Garnai, Sarah J., Brinkmeier, Michelle L., Emery, Ben, Aleman, Tomas S., Pyle, Louise C., Veleva-Rotse, Biliana, Sisk, Robert A., Rozsa, Frank W., Ozel, Ayse Bilge, Li, Jun Z., Moroi, Sayoko E., Archer, Steven M., Lin, Cheng-mao, Sheskey, Sarah, Wiinikka-Buesser, Laurel, Eadie, James, Urquhart, Jill E., Black, Graeme C.M., Othman, Mohammad I., Boehnke, Michael, Sullivan, Scot A., Skuta, Gregory L., Pawar, Hemant S., Katz, Alexander E., Huryn, Laryssa A., Hufnagel, Robert B., Camper, Sally A., Richards, Julia E., Prasov, Lev
Publicado 2019

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

por Tenney, Alan P., Di Gioia, Silvio Alessandro, Webb, Bryn D., Chan, Wai-Man, de Boer, Elke, Garnai, Sarah J., Barry, Brenda J., Ray, Tammy, Kosicki, Michael, Robson, Caroline D., Zhang, Zhongyang, Collins, Thomas E., Gelber, Alon, Pratt, Brandon M., Fujiwara, Yuko, Varshney, Arushi, Lek, Monkol, Warburton, Peter E., Van Ryzin, Carol, Lehky, Tanya J., Zalewski, Christopher, King, Kelly A., Brewer, Carmen C., Thurm, Audrey, Snow, Joseph, Facio, Flavia M., Narisu, Narisu, Bonnycastle, Lori L., Swift, Amy, Chines, Peter S., Bell, Jessica L., Mohan, Suresh, Whitman, Mary C., Staffieri, Sandra E., Elder, James E., Demer, Joseph L., Torres, Alcy, Rachid, Elza, Al-Haddad, Christiane, Boustany, Rose-Mary, Mackey, David A., Brady, Angela F., Fenollar-Cortés, María, Fradin, Melanie, Kleefstra, Tjitske, Padberg, George W., Raskin, Salmo, Sato, Mario Teruo, Orkin, Stuart H., Parker, Stephen C. J., Hadlock, Tessa A., Vissers, Lisenka E. L. M., van Bokhoven, Hans, Jabs, Ethylin Wang, Collins, Francis S., Pennacchio, Len A., Manoli, Irini, Engle, Elizabeth C.
Publicado 2023