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 em 2007

Duplication 16p11.2 in a Child with Infantile Seizure Disorder

Por Bedoyan, Jirair K., Kumar, Ravinesh A., Sudi, Jyotsna, Silverstein, Faye, Ackley, Todd, Iyer, Ramaswamy K., Christian, Susan L., Martin, Donna M.
Publicado em 2010

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 em 2009

The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles

Por Kusenda, Mary, Vacic, Vladimir, Malhotra, Dheeraj, Rodgers, Linda, Pavon, Kevin, Meth, Jennifer, Kumar, Ravinesh A., Christian, Susan L., Peeters, Hilde, Cho, Shawn S., Addington, Anjene, Rapoport, Judith L., Sebat, Jonathan
Publicado no J Child Neurol (2015)

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 em 2010

Novel Submicroscopic chromosomal abnormalities detected in Autism Spectrum Disorder

Por Christian, Susan L., Brune, Camille W., Sudi, Jyotsna, Kumar, Ravinesh A., Liu, Shaung, KaraMohamed, Samer, Badner, Judith A., Matsui, Seiichi, Conroy, Jeffrey, McQuaid, Devin, Gergel, James, Hatchwell, Eli, Gilliam, T. Conrad, Gershon, Elliot S., Nowak, Norma J., Dobyns, William B., Cook, Edwin H.
Publicado em 2008

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 em 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 em 2009