Search Results - "Raubeson, Melanie J."

No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins by Murdoch, John D, Gupta, Abha R, Sanders, Stephan J, Walker, Michael F, Keaney, John, Fernandez, Thomas V, Murtha, Michael T, Anyanwu, Samuel, Ober, Gordon T, Raubeson, Melanie J, DiLullo, Nicholas M, Villa, Natalie, Waqar, Zainabdul, Sullivan, Catherine, Gonzalez, Luis, Willsey, A Jeremy, Choe, So-Yeon, Neale, Benjamin M, Daly, Mark J, State, Matthew W

“…Contactins and Contactin-Associated Proteins, and Contactin-Associated Protein-Like 2 (CNTNAP2) in particular, have been widely cited as autism risk genes…”
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De novo mutations revealed by whole-exome sequencing are strongly associated with autism by Sanders, Stephan J., Murtha, Michael T., Gupta, Abha R., Murdoch, John D., Raubeson, Melanie J., Willsey, A. Jeremy, Ercan-Sencicek, A. Gulhan, DiLullo, Nicholas M., Parikshak, Neelroop N., Stein, Jason L., Walker, Michael F., Ober, Gordon T., Teran, Nicole A., Song, Youeun, El-Fishawy, Paul, Murtha, Ryan C., Choi, Murim, Overton, John D., Bjornson, Robert D., Carriero, Nicholas J., Meyer, Kyle A., Bilguvar, Kaya, Mane, Shrikant M., Šestan, Nenad, Lifton, Richard P., Günel, Murat, Roeder, Kathryn, Geschwind, Daniel H., Devlin, Bernie, State, Matthew W.

“…Rare de novo single nucleotide variants in brain-expressed genes are found to be associated with autism spectrum disorders and to carry large effects…”
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Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism by Fernandez, Thomas V, Sanders, Stephan J, Yurkiewicz, Ilana R, Ercan-Sencicek, A. Gulhan, Kim, Young-Shin, Fishman, Daniel O, Raubeson, Melanie J, Song, Youeun, Yasuno, Katsuhito, Ho, Winson S.C, Bilguvar, Kaya, Glessner, Joseph, Chu, Su Hee, Leckman, James F, King, Robert A, Gilbert, Donald L, Heiman, Gary A, Tischfield, Jay A, Hoekstra, Pieter J, Devlin, Bernie, Hakonarson, Hakon, Mane, Shrikant M, Günel, Murat, State, Matthew W

“…Background Studies of copy number variation (CNV) have characterized loci and molecular pathways in a range of neuropsychiatric conditions. We analyzed rare…”
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No evidence for association of Autism with rare heterozygous point mutations in contactin-associated protein-like 2 by Murdoch, John D, Gupta, Abha R, Sanders, Stephan J, Walker, Michael F, Keaney, John, Fernandez, Thomas V, Murtha, Michael T, Anyanwu, Samuel, Ober, Gordon T, Raubeson, Melanie J, DiLullo, Nicholas M, Villa, Natalie, Waqar, Zainabdul, Sullivan, Catherine, Gonzalez, Luis, Willsey, A. Jeremy, Choe, So-Yeon, Neale, Benjamin M, Daly, Mark J, State, Matthew W

“…Contactins and Contactin-Associated Proteins, and Contactin-Associated Protein-Like 2 (CNTNAP2) in particular, have been widely cited as autism risk genes…”
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No Evidence for Association of Autism with Rare Heterozygous Point Mutations in Contactin-Associated Protein-Like 2 ( CNTNAP2 ), or in Other Contactin-Associated Proteins or Contactins: e1004852 by Murdoch, John D, Gupta, Abha R, Sanders, Stephan J, Walker, Michael F, Keaney, John, Fernandez, Thomas V, Murtha, Michael T, Anyanwu, Samuel, Ober, Gordon T, Raubeson, Melanie J, DiLullo, Nicholas M, Villa, Natalie, Waqar, Zainabdul, Sullivan, Catherine, Gonzalez, Luis, Willsey, A Jeremy, Choe, So-Yeon, Neale, Benjamin M, Daly, Mark J, State, Matthew W

“…Contactins and Contactin-Associated Proteins, and Contactin-Associated Protein-Like 2 (CNTNAP2) in particular, have been widely cited as autism risk genes…”
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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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