Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes

por Kumar, Ravinesh A, Everman, David B, Morgan, Chad T, Slavotinek, Anne, Schwartz, Charles E, Simpson, Elizabeth M
Publicado 2007

A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism

por Kumar, Ravinesh A, Sudi, Jyotsna, Babatz, Timothy D, Brune, Camille W, Oswald, Donald, Yen, Mayon, Nowak, Norma J, Cook, Edwin H, Christian, Susan L, Dobyns, William B
Publicado 2009

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins

por Kumar, Ravinesh A., Pilz, Daniela T., Babatz, Timothy D., Cushion, Thomas D., Harvey, Kirsten, Topf, Maya, Yates, Laura, Robb, Stephanie, Uyanik, Gökhan, Mancini, Gracia M.S., Rees, Mark I., Harvey, Robert J., Dobyns, William B.
Publicado 2010

Association and Mutation Analyses of 16p11.2 Autism Candidate Genes

por Kumar, Ravinesh A., Marshall, Christian R., Badner, Judith A., Babatz, Timothy D., Mukamel, Zohar, Aldinger, Kimberly A., Sudi, Jyotsna, Brune, Camille W., Goh, Gerald, KaraMohamed, Samer, Sutcliffe, James S., Cook, Edwin H., Geschwind, Daniel H., Dobyns, William B., Scherer, Stephen W., Christian, Susan L.
Publicado 2009

Microduplications of 16p11.2 are Associated with Schizophrenia

por McCarthy, Shane, Makarov, Vladimir, Kirov, George, Addington, Anjene, McClellan, Jon, Yoon, Seungtai, Perkins, Dianna, Dickel, Diane E., Kusenda, Mary, Krastoshevsky, Olga, Krause, Verena, Kumar, Ravinesh A., Grozeva, Detelina, Malhotra, Dheeraj, Walsh, Tom, Zackai, Elaine H., Kaplan, Paige, Ganesh, Jaya, Krantz, Ian D., Spinner, Nancy B., Roccanova, Patricia, Bhandari, Abhishek, Pavon, Kevin, Lakshmi, B., Leotta, Anthony, Kendall, Jude, Lee, Yoon-ha, Vacic, Vladimir, Gary, Sydney, Iakoucheva, Lilia, Crow, Timothy J., Christian, Susan L., Lieberman, Jeffrey, Stroup, Scott, Lehtimäki, Terho, Puura, Kaija, Haldeman-Englert, Chad, Pearl, Justin, Goodell, Meredith, Willour, Virginia L., DeRosse, Pamela, Steele, Jo, Kassem, Layla, Wolff, Jessica, Chitkara, Nisha, McMahon, Francis J., Malhotra, Anil K., Potash, James B., Schulze, Thomas G., Nöthen, Markus M., Cichon, Sven, Rietschel, Marcella, Leibenluft, Ellen, Kustanovich, Vlad, Lajonchere, Clara M., Sutcliffe, James S., Skuse, David, Gill, Michael, Gallagher, Louise, Mendell, Nancy R., Craddock, Nick, Owen, Michael J., O’Donovan, Michael C., Shaikh, Tamim H., Susser, Ezra, DeLisi, Lynn E., Sullivan, Patrick F., Deutsch, Curtis K., Rapoport, Judith, Levy, Deborah L., King, Mary-Claire, Sebat, Jonathan
Publicado 2009