Investigation of autism and GABA receptor subunit genes in multiple ethnic groups

por Collins, Ann L., Ma, Deqiong, Whitehead, Patrice L., Martin, Eden R., Wright, Harry H., Abramson, Ruth K., Hussman, John P., Haines, Jonathan L., Cuccaro, Michael L., Gilbert, John R., Pericak-Vance, Margaret A.
Publicado em 2006

Novel variants identified in methyl-CpG-binding domain genes in autistic individuals

por Cukier, Holly N., Rabionet, Raquel, Konidari, Ioanna, Rayner-Evans, Melissa Y., Baltos, Mary L., Wright, Harry H., Abramson, Ruth K., Martin, Eden R., Cuccaro, Michael L., Pericak-Vance, Margaret A., Gilbert, John R.
Publicado em 2009

A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis

por Griswold, Anthony J, Ma, Deqiong, Sacharow, Stephanie J, Robinson, Joycelyn L, Jaworski, James M, Wright, Harry H, Abramson, Ruth K, Lybæk, Helle, Øyen, Nina, Cuccaro, Michael L, Gilbert, John R, Pericak-Vance, Margaret A
Publicado em 2011

Phenotypic Homogeneity Provides Increased Support for Linkage on Chromosome 2 in Autistic Disorder

por Shao, Yujun, Raiford, Kimberly L., Wolpert, Chantelle M., Cope, Heidi A., Ravan, Sarah A., Ashley-Koch, Allison A., Abramson, Ruth K., Wright, Harry H., DeLong, Robert G., Gilbert, John R., Cuccaro, Michael L., Pericak-Vance, Margaret A.
Publicado em 2002

Microduplications in an Autism Multiplex Family Narrow the Region of Susceptibility for Developmental Disorders on 15q24 and Implicate 7p21

por Cukier, Holly N., Salyakina, Daria, Blankstein, Sarah F., Robinson, Joycelyn L., Sacharow, Stephanie, Ma, Deqiong, Wright, Harry H., Abramson, Ruth K., Menon, Ramkumar, Williams, Scott M., Haines, Jonathan L., Cuccaro, Michael L., Gilbert, John R., Pericak-Vance, Margaret A.
Publicado no Am J Med Genet B Neuropsychiatr Genet (2011)

Evaluating mitochondrial DNA variation in autism spectrum disorders

por HADJIXENOFONTOS, ATHENA, SCHMIDT, MICHAEL A., WHITEHEAD, PATRICE L., KONIDARI, IOANNA, HEDGES, DALE J., WRIGHT, HARRY H., ABRAMSON, RUTH K., MENON, RAMKUMAR, WILLIAMS, SCOTT M., CUCCARO, MICHAEL L., HAINES, JONATHAN L., GILBERT, JOHN R., PERICAK-VANCE, MARGARET A., MARTIN, EDEN R., MCCAULEY, JACOB L.
Publicado em 2012

An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males

por Chung, Ren-Hua, Ma, Deqiong, Wang, Kai, Hedges, Dale J, Jaworski, James M, Gilbert, John R, Cuccaro, Michael L, Wright, Harry H, Abramson, Ruth K, Konidari, Ioanna, Whitehead, Patrice L, Schellenberg, Gerard D, Hakonarson, Hakon, Haines, Jonathan L, Pericak-Vance, Margaret A, Martin, Eden R
Publicado em 2011

Genomic and epigenetic evidence for oxytocin receptor deficiency in autism

por Worley Gordon, Langford Cordelia F, Ellis Peter, Wright Harry H, Abramson Ruth K, Lintas Carla, Markunas Christina A, Biscocho Dhani, Johnson Jessica, Towers Aaron J, Connelly Jessica J, Gregory Simon G, Delong G Robert, Murphy Susan K, Cuccaro Michael L, Persico Antonello, Pericak-Vance Margaret A
Publicado em 2009-10-01

Genomic and epigenetic evidence for oxytocin receptor deficiency in autism

por Gregory, Simon G, Connelly, Jessica J, Towers, Aaron J, Johnson, Jessica, Biscocho, Dhani, Markunas, Christina A, Lintas, Carla, Abramson, Ruth K, Wright, Harry H, Ellis, Peter, Langford, Cordelia F, Worley, Gordon, Delong, G Robert, Murphy, Susan K, Cuccaro, Michael L, Persico, Antonello, Pericak-Vance, Margaret A
Publicado em 2009

Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk

por Salyakina, Daria, Cukier, Holly N., Lee, Joycelyn M., Sacharow, Stephanie, Nations, Laura D., Ma, Deqiong, Jaworski, James M., Konidari, Ioanna, Whitehead, Patrice L., Wright, Harry H., Abramson, Ruth K., Williams, Scott M., Menon, Ramkumar, Haines, Jonathan L., Gilbert, John R., Cuccaro, Michael L., Pericak-Vance, Margaret A.
Publicado em 2011

The Expanding Role of MBD Genes in Autism: Identification of a MECP2 Duplication and Novel Alterations in MBD5, MBD6, and SETDB1

por Cukier, Holly N., Lee, Joycelyn M., Ma, Deqiong, Young, Juan I., Mayo, Vera, Butler, Brittany L., Ramsook, Sandhya S., Rantus, Joseph A., Abrams, Alexander J., Whitehead, Patrice L., Wright, Harry H., Abramson, Ruth K., Haines, Jonathan L., Cuccaro, Michael L., Pericak-Vance, Margaret A., Gilbert, John R.
Publicado em 2012

Pharmacotherapy of Autism Spectrum Disorder: Results from the Randomized BAART Clinical Trial

por DeVane, C. Lindsay, Charles, Jane M., Abramson, Ruth K., Williams, John E., Carpenter, Laura A., Raven, Sarah, Gwynette, Frampton, Stuck, Craig A., Geesey, Mark E., Bradley, Catherine, Donovan, Jennifer L., Hall, Alicia G., Sherk, Shelley T., Powers, Nancy R., Spratt, Eve, Kinsman, Anne, Kruesi, Markus J., Bragg, John E.
Publicado no Pharmacotherapy (2019)

Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways

por Griswold, Anthony J., Ma, Deqiong, Cukier, Holly N., Nations, Laura D., Schmidt, Mike A., Chung, Ren-Hua, Jaworski, James M., Salyakina, Daria, Konidari, Ioanna, Whitehead, Patrice L., Wright, Harry H., Abramson, Ruth K., Williams, Scott M., Menon, Ramkumar, Martin, Eden R., Haines, Jonathan L., Gilbert, John R., Cuccaro, Michael L., Pericak-Vance, Margaret A.
Publicado em 2012

A genome-wide association study of autism reveals a common novel risk locus at 5p14.1

por Ma, DQ, Salyakina, Daria, Jaworski, James M., Konidari, Ioanna, Whitehead, Patrice L., Andersen, Ashley N., Hoffman, Joshua D., Slifer, Susan H., Hedges, Dale J., Cukier, Holly N., McCauley, Jacob L., Beecham, Gary W., Wright, Harry H., Abramson, Ruth K., Martin, Eden R., Hussman, John P., Gilbert, John R., Cuccaro, Michael L., Haines, Jonathan L., Pericak-Vance., Margaret A.
Publicado em 2009

Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16

por Djoussé, Luc, Knowlton, Beth, Hayden, Michael R., Almqvist, Elisabeth W., Brinkman, Ryan R., Ross, Christopher A., Margolis, Russel L., Rosenblatt, Adam, Durr, Alexandra, Dode, Catherine, Morrison, Patrick J., Novelletto, Andrea, Frontali, Marina, Trent, Ronald J. A., McCusker, Elizabeth, Gómez-Tortosa, Estrella, Mayo Cabrero, David, Jones, Randi, Zanko, Andrea, Nance, Martha, Abramson, Ruth K., Suchowersky, Oksana, Paulsen, Jane S., Harrison, Madaline B., Yang, Qiong, Cupples, L. Adrienne, Mysore, Jayalakshmi, Gusella, James F., MacDonald, Marcy E., Myers, Richard H.
Publicado em 2004

Common SNP-Based Haplotype Analysis of the 4p16.3 Huntington Disease Gene Region

por Lee, Jong-Min, Gillis, Tammy, Mysore, Jayalakshmi Srinidhi, Ramos, Eliana Marisa, Myers, Richard H., Hayden, Michael R., Morrison, Patrick J., Nance, Martha, Ross, Christopher A., Margolis, Russell L., Squitieri, Ferdinando, Griguoli, Annamaria, Di Donato, Stefano, Gomez-Tortosa, Estrella, Ayuso, Carmen, Suchowersky, Oksana, Trent, Ronald J., McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Jones, Randi, Ashizawa, Tetsuo, Frank, Samuel, Saint-Hilaire, Marie-Helene, Hersch, Steven M., Rosas, Herminia D., Lucente, Diane, Harrison, Madaline B., Zanko, Andrea, Abramson, Ruth K., Marder, Karen, Sequeiros, Jorge, MacDonald, Marcy E., Gusella, James F.
Publicado em 2012

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease

por Lee, Ji-Hyun, Lee, Jong-Min, Ramos, Eliana Marisa, Gillis, Tammy, Mysore, Jayalakshmi S., Kishikawa, Shotaro, Hadzi, Tiffany, Hendricks, Audrey E., Hayden, Michael R., Morrison, Patrick J., Nance, Martha, Ross, Christopher A., Margolis, Russell L., Squitieri, Ferdinando, Gellera, Cinzia, Gomez-Tortosa, Estrella, Ayuso, Carmen, Suchowersky, Oksana, Trent, Ronald J., McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Jones, Randi, Ashizawa, Tetsuo, Frank, Samuel, Saint-Hilaire, Marie-Helene, Hersch, Steven M., Rosas, Herminia D., Lucente, Diane, Harrison, Madaline B., Zanko, Andrea, Abramson, Ruth K., Marder, Karen, Sequeiros, Jorge, Landwehrmeyer, G. Bernhard, Network, Ira Shoulson, Myers, Richard H., MacDonald, Marcy E., Gusella, James F.
Publicado em 2012

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset

por Ramos, Eliana Marisa, Latourelle, Jeanne C., Gillis, Tammy, Mysore, Jayalakshmi S., Squitieri, Ferdinando, Di Pardo, Alba, Di Donato, Stefano, Gellera, Cinzia, Hayden, Michael R., Morrison, Patrick J., Nance, Martha, Ross, Christopher A., Margolis, Russell L., Gomez-Tortosa, Estrella, Ayuso, Carmen, Suchowersky, Oksana, Trent, Ronald J., McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Jones, Randi, Ashizawa, Tetsuo, Frank, Samuel, Saint-Hilaire, Marie-Helene, Hersch, Steven M., Rosas, Herminia D., Lucente, Diane, Harrison, Madaline B., Zanko, Andrea, Abramson, Ruth K., Marder, Karen, Gusella, James F., Lee, Jong-Min, Alonso, Isabel, Sequeiros, Jorge, Myers, Richard H., MacDonald, Marcy E.
Publicado em 2013

A Genome Scan for Modifiers of Age at Onset in Huntington Disease: The HD MAPS Study

por Li, Jian-Liang, Hayden, Michael R., Almqvist, Elisabeth W., Brinkman, Ryan R., Durr, Alexandra, Dodé, Catherine, Morrison, Patrick J., Suchowersky, Oksana, Ross, Christopher A., Margolis, Russell L., Rosenblatt, Adam, Gómez-Tortosa, Estrella, Cabrero, David Mayo, Novelletto, Andrea, Frontali, Marina, Nance, Martha, Trent, Ronald J. A., McCusker, Elizabeth, Jones, Randi, Paulsen, Jane S., Harrison, Madeline, Zanko, Andrea, Abramson, Ruth K., Russ, Ana L., Knowlton, Beth, Djoussé, Luc, Mysore, Jayalakshmi S., Tariot, Suzanne, Gusella, Michael F., Wheeler, Vanessa C., Atwood, Larry D., Cupples, L. Adrienne, Saint-Hilaire, Marie, Cha, Jang-Ho J., Hersch, Steven M., Koroshetz, Walter J., Gusella, James F., MacDonald, Marcy E., Myers, Richard H.
Publicado em 2003

Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study

por Li, Jian-Liang, Hayden, Michael R, Warby, Simon C, Durr, Alexandra, Morrison, Patrick J, Nance, Martha, Ross, Christopher A, Margolis, Russell L, Rosenblatt, Adam, Squitieri, Ferdinando, Frati, Luigi, Gómez-Tortosa, Estrella, García, Carmen Ayuso, Suchowersky, Oksana, Klimek, Mary Lou, Trent, Ronald JA, McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Paulsen, Jane S, Jones, Randi, Ashizawa, Tetsuo, Lazzarini, Alice, Wheeler, Vanessa C, Prakash, Ranjana, Xu, Gang, Djoussé, Luc, Mysore, Jayalakshmi Srinidhi, Gillis, Tammy, Hakky, Michael, Cupples, L Adrienne, Saint-Hilaire, Marie H, Cha, Jang-Ho J, Hersch, Steven M, Penney, John B, Harrison, Madaline B, Perlman, Susan L, Zanko, Andrea, Abramson, Ruth K, Lechich, Anthony J, Duckett, Ayana, Marder, Karen, Conneally, P Michael, Gusella, James F, MacDonald, Marcy E, Myers, Richard H
Publicado em 2006