Search Results - "Wright, Nicole R. Davis"

Searching for Potocki–Lupski syndrome phenotype: A patient with language impairment and no autism by Gulhan Ercan-Sencicek, A, Davis Wright, Nicole R, Frost, Stephen J, Fulbright, Robert K, Felsenfeld, Susan, Hart, Lesley, Landi, Nicole, Einar Mencl, W, Sanders, Stephan J, Pugh, Kenneth R, State, Matthew W, Grigorenko, Elena L

“…Abstract Potocki–Lupski syndrome (PTLS; OMIM 610883) is a genomic syndrome that arises as a result of a duplication of 17p11.2. Although numerous cases of…”
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Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism by Sanders, Stephan J., Ercan-Sencicek, A. Gulhan, Hus, Vanessa, Luo, Rui, Murtha, Michael T., Moreno-De-Luca, Daniel, Chu, Su H., Moreau, Michael P., Gupta, Abha R., Thomson, Susanne A., Mason, Christopher E., Bilguvar, Kaya, Celestino-Soper, Patricia B.S., Choi, Murim, Crawford, Emily L., Davis, Lea, Davis Wright, Nicole R., Dhodapkar, Rahul M., DiCola, Michael, DiLullo, Nicholas M., Fernandez, Thomas V., Fielding-Singh, Vikram, Fishman, Daniel O., Frahm, Stephanie, Garagaloyan, Rouben, Goh, Gerald S., Kammela, Sindhuja, Klei, Lambertus, Lowe, Jennifer K., Lund, Sabata C., McGrew, Anna D., Meyer, Kyle A., Moffat, William J., Murdoch, John D., O'Roak, Brian J., Ober, Gordon T., Pottenger, Rebecca S., Raubeson, Melanie J., Song, Youeun, Wang, Qi, Yaspan, Brian L., Yu, Timothy W., Yurkiewicz, Ilana R., Beaudet, Arthur L., Cantor, Rita M., Curland, Martin, Grice, Dorothy E., Günel, Murat, Lifton, Richard P., Mane, Shrikant M., Martin, Donna M., Shaw, Chad A., Sheldon, Michael, Tischfield, Jay A., Walsh, Christopher A., Morrow, Eric M., Ledbetter, David H., Fombonne, Eric, Lord, Catherine, Martin, Christa Lese, Brooks, Andrew I., Sutcliffe, James S., Cook, Edwin H., Geschwind, Daniel, Roeder, Kathryn, Devlin, Bernie, State, Matthew W.

“…We have undertaken a genome-wide analysis of rare copy-number variation (CNV) in 1124 autism spectrum disorder (ASD) families, each comprised of a single…”
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A balanced t(10;15) translocation in a male patient with developmental language disorder by Ercan-Sencicek, A. Gulhan, Davis Wright, Nicole R, Sanders, Stephan J, Oakman, Nicole, Valdes, Lianna, Bakkaloglu, Betul, Doyle, Niamh, Yrigollen, Carolyn M, Morgan, Thomas M, Grigorenko, Elena L

“…Abstract We report the clinical and cytogenetic findings on a male child with developmental language disorder, no physical abnormalities, and a balanced…”
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Multiple recurrent de novo copy number variations (CNVs), including duplications of the 7q11.23 Williams-Beuren syndrome region, are strongly associated with autism by Sanders, Stephan J., Ercan-Sencicek, A. Gulhan, Hus, Vanessa, Luo, Rui, Murtha, Michael T., Moreno-De-Luca, Daniel, Chu, Su H., Moreau, Michael P., Gupta, Abha R., Thomson, Susanne A., Mason, Christopher E., Bilguvar, Kaya, Celestino-Soper, Patricia B. S., Choi, Murim, Crawford, Emily L., Davis, Lea, Wright, Nicole R. Davis, Dhodapkar, Rahul M., DiCola, Michael, DiLullo, Nicholas M., Fernandez, Thomas V., Fielding-Singh, Vikram, Fishman, Daniel O., Frahm, Stephanie, Garagaloyan, Rouben, Goh, Gerald S., Kammela, Sindhuja, Klei, Lambertus, Lowe, Jennifer K., Lund, Sabata C., McGrew, Anna D., Meyer, Kyle A., Moffat, William J., Murdoch, John D., O'Roak, Brian J., Ober, Gordon T., Pottenger, Rebecca S., Raubeson, Melanie J., Song, Youeun, Wang, Qi, Yaspan, Brian L., Yu, Timothy W., Yurkiewicz, Ilana R., Beaudet, Arthur L., Cantor, Rita M., Curland, Martin, Grice, Dorothy E., Günel, Murat, Lifton, Richard P., Mane, Shrikant M., Martin, Donna M., Shaw, Chad A., Sheldon, Michael, Tischfield, Jay A., Walsh, Christopher A., Morrow, Eric M., Ledbetter, David H., Fombonne, Eric, Lord, Catherine, Martin, Christa Lese, Brooks, Andrew I., Sutcliffe, James S., Cook, Edwin H., Geschwind, Daniel, Roeder, Kathryn, Devlin, Bernie, State, Matthew W.

“…Given prior evidence for the contribution of rare copy number variations (CNVs) to autism spectrum disorders (ASD), we studied these events in 4,457…”
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