Contribution of autosomal rare and de novo variants to sex differences in autism

Authors: Aleksic, Branko, Artomov, Mykyta, Barbosa, Mafalda, Benetti, Elisa, Betancur, Catalina, Biscaldi-Schafer, Monica, Børglum, Anders D., Brand, Harrison, Brusco, Alfredo, Buxbaum, Joseph D., Campos, Gabriele, Cardaropoli, Simona, Carli, Diana, Carracedo, Angel, Chan, Marcus C.Y., Chiocchetti, Andreas G., Chung, Brian H.Y., Collins, Brett, Collins, Ryan L., Cook, Edwin H., Coon, Hilary, Costa, Claudia I.S., Cuccaro, Michael L., Cutler, David J., Daly, Mark J., De Rubeis, Silvia, Devlin, Bernie, Doan, Ryan N., Domenici, Enrico, Dong, Shan, Fallerini, Chiara, Fernández-Prieto, Montserrat, Ferrero, Giovanni Battista, Freitag, Christine M., Fu, Jack M., Gargus, J. Jay, Gerges, Sherif, Giorgio, Elisa, Girardi, Ana Cristina, Guter, Stephen, Hansen-Kiss, Emily, Herman, Gail E., Hertz-Picciotto, Irva, Hougaard, David M., Hultman, Christina M., Jacob, Suma, Kaartinen, Miia, Klei, Lambertus, Kolevzon, Alexander, Kushima, Itaru, Lee, So Lun, Lehtimäki, Terho, Liang, Lindsay, Lintas, Carla, Ljungdahl, Alicia, Lo Rizzo, Caterina, Ludena, Yunin, Maciel, Patricia, Mahjani, Behrang, Maltman, Nell, Manara, Marianna, Manoach, Dara S., Meiri, Gal, Menashe, Idan, Miller, Judith, Minshew, Nancy, Mosconi, Matthew, Nguyen, Rachel, Ozaki, Norio, Palotie, Aarno, Parellada, Mara, Passos-Bueno, Maria Rita, Pavinato, Lisa, Peng, Minshi, Pericak-Vance, Margaret, Persico, Antonio M., Pessah, Isaac N., Puura, Kaija, Reichenberg, Abraham, Renieri, Alessandra, Roeder, Kathryn, Sanders, Stephan J., Sandin, Sven, Satterstrom, F. Kyle, Scherer, Stephen W., Schlitt, Sabine, Schmidt, Rebecca J., Schmitt, Lauren, Schneider-Momm, Katja, Siper, Paige M., Sloofman, Laura, Smith, Moyra, Stevens, Christine R., Suren, Pål, Sutcliffe, James S., Sweeney, John A., Talkowski, Michael E., Tassone, Flora, Teufel, Karoline, Trabetti, Elisabetta, Trajkova, Slavica, Trelles, Maria del Pilar, Wamsley, Brie, Wang, Jaqueline Y.T., Weiss, Lauren A., Yu, Mullin H.C., Yuen, Ryan, Adhya, Deep, Allison, Carrie, Ayeung, Bonnie, Bamford, Rosie, Baron-Cohen, Simon, Bethlehem, Richard, Biron-Shental, Tal, Burton, Graham, Cowell, Wendy, Davies, Jonathan, Floris, Dori, Franklin, Alice, Gabis, Lidia, Geschwind, Daniel, Greenberg, David M., Gu, Yuanjun, Havdahl, Alexandra, Heazell, Alexander, Holt, Rosemary, Hurles, Matthew, Khan, Yumnah, Lai, Meng-Chuan, Lancaster, Madeline, Lombardo, Michael, Martin, Hilary, Martinez, Jose Gonzalez, Mill, Jonathan, Koko, Mahmoud, Niakan, Kathy, Pavlinek, Adam, Polit, Lucia Dutan, Radecki, Marcin, Rowitch, David, Sichlinger, Laura, Srivastava, Deepak, Tsompanidis, Alexandros, Uzefovsky, Florina, Warrier, Varun, Weir, Elizabeth, Zhang, Xinhe

Source: In The American Journal of Human Genetics 6 March 2025 112(3):599-614

Circulating biomarkers of kidney angiomyolipoma and cysts in tuberous sclerosis complex patients

Authors: Rubtsova, Varvara I. ^{1, 2}, Chun, Yujin ², Kim, Joohwan ², Ramirez, Cuauhtemoc B. ^{1, 2}, Jung, Sunhee ¹, Choi, Wonsuk ¹, Kelly, Miranda E. ¹, Lopez, Miranda L. ¹, Cassidy, Elizabeth ³, Rushing, Gabrielle ³, Aguiar, Dean J. ³, Lau, Wei Ling ⁴, Ahdoot, Rebecca S. ⁴, Smith, Moyra ⁵, Edinger, Aimee L. ^{6, 7, 8}, Lee, Sang-Guk ^{1, 9, ∗}, Jang, Cholsoon ^{1, 8, 10, 11, ∗∗}, Lee, Gina ^{2, 8, 10, 11, 12, ∗∗∗}

Source: In iScience 19 July 2024 27(7)

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Authors: Aleksic, Branko, Anney, Richard, Barbosa, Mafalda, Bishop, Somer, Brusco, Alfredo, Bybjerg-Grauholm, Jonas, Carracedo, Angel, Chan, Marcus C.Y., Chiocchetti, Andreas G., Chung, Brian H.Y., Coon, Hilary, Cuccaro, Michael L., Curró, Aurora, Dalla Bernardina, Bernardo, Doan, Ryan, Domenici, Enrico, Dong, Shan, Fallerini, Chiara, Fernández-Prieto, Montserrat, Ferrero, Giovanni Battista, Freitag, Christine M., Fromer, Menachem, Gargus, J. Jay, Geschwind, Daniel, Giorgio, Elisa, González-Peñas, Javier, Guter, Stephen, Halpern, Danielle, Hansen-Kiss, Emily, He, Xin, Herman, Gail E., Hertz-Picciotto, Irva, Hougaard, David M., Hultman, Christina M., Ionita-Laza, Iuliana, Jacob, Suma, Jamison, Jesslyn, Jugessur, Astanand, Kaartinen, Miia, Knudsen, Gun Peggy, Kolevzon, Alexander, Kushima, Itaru, Lee, So Lun, Lehtimäki, Terho, Lim, Elaine T., Lintas, Carla, Lipkin, W. Ian, Lopergolo, Diego, Lopes, Fátima, Ludena, Yunin, Maciel, Patricia, Magnus, Per, Mahjani, Behrang, Maltman, Nell, Manoach, Dara S., Meiri, Gal, Menashe, Idan, Miller, Judith, Minshew, Nancy, Montenegro, Eduarda M.S., Moreira, Danielle, Morrow, Eric M., Mors, Ole, Mortensen, Preben Bo, Mosconi, Matthew, Muglia, Pierandrea, Neale, Benjamin M., Nordentoft, Merete, Ozaki, Norio, Palotie, Aarno, Parellada, Mara, Passos-Bueno, Maria Rita, Pericak-Vance, Margaret, Persico, Antonio M., Pessah, Isaac, Puura, Kaija, Reichenberg, Abraham, Renieri, Alessandra, Riberi, Evelise, Robinson, Elise B., Samocha, Kaitlin E., Sandin, Sven, Santangelo, Susan L., Schellenberg, Gerry, Scherer, Stephen W., Schlitt, Sabine, Schmidt, Rebecca, Schmitt, Lauren, Silva, Isabela M.W., Singh, Tarjinder, Siper, Paige M., Smith, Moyra, Soares, Gabriela, Stoltenberg, Camilla, Suren, Pål, Susser, Ezra, Sweeney, John, Szatmari, Peter, Tang, Lara, Tassone, Flora, Teufel, Karoline, Trabetti, Elisabetta, Trelles, Maria del Pilar, Walsh, Christopher A., Weiss, Lauren A., Werge, Thomas, Werling, Donna M., Wigdor, Emilie M., Wilkinson, Emma, Willsey, A. Jeremy, Yu, Timothy W., Yu, Mullin H.C., Yuen, Ryan, Zachi, Elaine, Agerbo, Esben, Als, Thomas Damm, Appadurai, Vivek, Bækvad-Hansen, Marie, Belliveau, Rich, Buil, Alfonso, Carey, Caitlin E., Cerrato, Felecia, Chambert, Kimberly, Churchhouse, Claire, Dalsgaard, Søren, Demontis, Ditte, Dumont, Ashley, Goldstein, Jacqueline, Hansen, Christine S., Hauberg, Mads Engel, Hollegaard, Mads V., Howrigan, Daniel P., Huang, Hailiang, Maller, Julian, Martin, Alicia R., Martin, Joanna, Mattheisen, Manuel, Moran, Jennifer, Pallesen, Jonatan, Palmer, Duncan S., Pedersen, Carsten Bøcker, Pedersen, Marianne Giørtz, Poterba, Timothy, Poulsen, Jesper Buchhave, Ripke, Stephan, Schork, Andrew J., Thompson, Wesley K., Turley, Patrick, Walters, Raymond K., Satterstrom, F. Kyle, Kosmicki, Jack A., Wang, Jiebiao, Breen, Michael S., De Rubeis, Silvia, An, Joon-Yong, Peng, Minshi, Collins, Ryan, Grove, Jakob, Klei, Lambertus, Stevens, Christine, Reichert, Jennifer, Mulhern, Maureen S., Artomov, Mykyta, Gerges, Sherif, Sheppard, Brooke, Xu, Xinyi, Bhaduri, Aparna, Norman, Utku, Brand, Harrison, Schwartz, Grace, Nguyen, Rachel, Guerrero, Elizabeth E., Dias, Caroline, Betancur, Catalina, Cook, Edwin H., Gallagher, Louise, Gill, Michael, Sutcliffe, James S., Thurm, Audrey, Zwick, Michael E., Børglum, Anders D., State, Matthew W., Cicek, A. Ercument, Talkowski, Michael E., Cutler, David J., Devlin, Bernie, Sanders, Stephan J., Roeder, Kathryn, Daly, Mark J., Buxbaum, Joseph D.

Source: In Cell 6 February 2020 180(3):568-584

Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy

Authors: Ham, Michelle, Han, Julia, Osann, Kathryn, Smith, Moyra, Kimonis, Virginia

Source: In Mitochondrion May 2019 46:262-269

Ethnic disparities in the frequency of cancer reported in family histories

Authors: Maves, Heather, Flodman, Pamela, Nathan, Deepika, Smith, Moyra

Source: Journal of genetic counseling. 29(3):451-459

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107560781.0x000001&indx=1&recIds=ETOCvdc_100107560781.0x000001

Attention Deficit/Hyperactivity Disorder Children with a 7-Repeat Allele of the Dopamine Receptor D4 Gene Have Extreme Behavior but Normal Performance on Critical Neuropsychological Tests of Attention

Authors: Swanson, James, Oosterlaan, Jaap, Murias, Michael, Schuck, Sabrina, Flodman, Pamela, Spence, M. Anne, Wasdell, Michael, Ding, Yuanchun, Chi, Han-Chang, Smith, Moyra, Mann, Miranda, Carlson, Caryn, Kennedy, James L., Sergeant, Joseph A., Leung, Patrick, Zhang, Ya-Ping, Sadeh, Avi, Chen, Chuansheng, Whalen, Carol K., Babb, Kimberley A., Moyzis, Robert, Posner, Michael I.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2000 Apr . 97(9), 4754-4759.

Access URL: https://www.jstor.org/stable/122464

Mitochondrial and ion channel gene alterations in autism

Authors: Smith, Moyra, Flodman, Pamela L., Gargus, John J., Simon, Mariella T., Verrell, Kimberley, Haas, Richard, Reiner, Gail E., Naviaux, Robert, Osann, Katherine, Spence, M. Anne, Wallace, Douglas C.

Source: In BBA - Bioenergetics October 2012 1817(10):1796-1802

Location of the Genes for Human Heavy Chain Immunoglobulin to Chromosome 6

Authors: Smith, Moyra, Hirschhorn, Kurt

Source: Proceedings of the National Academy of Sciences of the United States of America, 1978 Jul 01. 75(7), 3367-3371.

Access URL: https://www.jstor.org/stable/68234

Functional Complementation of Ataxia-Telangiectasia Group D (AT-D) Cells by Microcell-Mediated Chromosome Transfer and Mapping of the AT-D Locus to the Region 11q22-23

Authors: Lambert, Clare, Schultz, Roger A., Smith, Moyra, Wagner-McPherson, Caryn, McDaniel, Lisa D., Donlon, Tim, Stanbridge, Eric J., Friedberg, Errol C.

Source: Proceedings of the National Academy of Sciences of the United States of America, 1991 Jul 01. 88(13), 5907-5911.

Access URL: https://www.jstor.org/stable/2357288

Low Frequency of p53 Mutations Observed in a Diverse Collection of Primary Hepatocellular Carcinomas

Authors: Buetow, Kenneth H., Sheffield, Val C., Zhu, Minghua, Zhou, Tianlun, Shen, Fu-min, Hino, Okio, Smith, Moyra, McMahan, Brian J., Lanier, Anne P., London, W. Thomas, Redeker, Allan G., Govindarajan, Sugantha

Source: Proceedings of the National Academy of Sciences of the United States of America, 1992 Oct . 89(20), 9622-9626.

Access URL: https://www.jstor.org/stable/2360453

Molecular Cloning and Characterization of a cDNA for the β Subunit of Human Alcohol Dehydrogenase

Authors: Duester, Gregg, Hatfield, G. Wesley, Bühler, Rolf, Hempel, John, Jörnvall, Hans, Smith, Moyra

Source: Proceedings of the National Academy of Sciences of the United States of America, 1984 Jul 01. 81(13), 4053-4057.

Access URL: https://www.jstor.org/stable/24136

Regional Gene Assignment of Human Porphobilinogen Deaminase and Esterase A 4 to Chromosome 11q23→ 11qter

Authors: Wang, Ai-Lan, Arredondo-Vega, Francisco X., Giampietro, Philip F., Smith, Moyra, Anderson, W. French, Desnick, Robert J.

Source: Proceedings of the National Academy of Sciences of the United States of America, 1981 Sep 01. 78(9), 5734-5738.

Access URL: https://www.jstor.org/stable/11542

Assignment of Human α 1 -antitrypsin to Chromosome 14 by Somatic Cell Hybrid Analysis

Authors: Darlington, Gretchen J., Astrin, Kenneth H., Muirhead, Susan P., Desnick, Robert J., Smith, Moyra

Source: Proceedings of the National Academy of Sciences of the United States of America, 1982 Feb 01. 79(3), 870-873.

Access URL: https://www.jstor.org/stable/11677

Translational research in genetics and genomics

Authors: Smith, Moyra

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Presence of Large Deletions in Kindreds with Autism

Authors: Yu, Chang-En, Dawson, Geraldine, Munson, Jeffrey, D’Souza, Ian, Osterling, Julie, Estes, Annette, Leutenegger, Anne-Louise, Flodman, Pamela, Smith, Moyra, Raskind, Wendy H., Spence, M. Anne, McMahon, William, Wijsman, Ellen M., Schellenberg, Gerard D.

Source: In The American Journal of Human Genetics 2002 71(1):100-115

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Authors: Fu, Jack M., Satterstrom, F. Kyle, Peng, Minshi, Brand, Harrison, Collins, Ryan L., Dong, Shan, Wamsley, Brie, Klei, Lambertus, Wang, Lily, Hao, Stephanie P., Stevens, Christine R., Cusick, Caroline, Babadi, Mehrtash, Banks, Eric, Collins, Brett, Dodge, Sheila, Gabriel, Stacey B., Gauthier, Laura, Lee, Samuel K., Liang, Lindsay, Ljungdahl, Alicia, Mahjani, Behrang, Sloofman, Laura, Smirnov, Andrey N., Barbosa, Mafalda, Betancur, Catalina, Brusco, Alfredo, Chung, Brian H. Y., Cook, Edwin H., Cuccaro, Michael L., Domenici, Enrico, Ferrero, Giovanni Battista, Gargus, J. Jay, Herman, Gail E., Hertz-Picciotto, Irva, Maciel, Patricia, Manoach, Dara S., Passos-Bueno, Maria Rita, Persico, Antonio M., Renieri, Alessandra, Sutcliffe, James S., Tassone, Flora, Trabetti, Elisabetta, Campos, Gabriele, Cardaropoli, Simona, Carli, Diana, Chan, Marcus C. Y., Fallerini, Chiara, Giorgio, Elisa, Girardi, Ana Cristina, Hansen-Kiss, Emily, Lee, So Lun, Lintas, Carla, Ludena, Yunin, Nguyen, Rachel, Pavinato, Lisa, Pericak-Vance, Margaret, Pessah, Isaac N., Schmidt, Rebecca J., Smith, Moyra, Costa, Claudia I. S., Trajkova, Slavica, Wang, Jaqueline Y. T., Yu, Mullin H. C., Cutler, David J., De Rubeis, Silvia, Buxbaum, Joseph D., Daly, Mark J., Devlin, Bernie, Roeder, Kathryn, Sanders, Stephan J., Talkowski, Michael E.

Source: Nature Genetics; 20220101, Issue: Preprints p1-12, 12p

NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.

Authors: Kimonis, Virginia, al Dubaisi, Rehab, Maclean, Andrew E., Hall, Kathy, Weiss, Lan, Stover, Alexander E., Schwartz, Philip H., Berg, Bethany, Cheng Cheng, Parikh, Sumit, Conner, Blair R., Sitao Wu, Hasso, Anton N., Scott, Daryl A., Kay Koenig, Mary, Karam, Rachid, Sha Tang, Smith, Moyra, Chao, Elizabeth, Balk, Janneke

Source: Journal of Medical Genetics; May2021, Vol. 58 Issue 5, p314-325, 12p

A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R

Authors: Steinberg-Epstein Robin, Modahl Charlotte B, Hanouni Mona, Mays Lee Z, Flodman Pamela L, Woodroffe Abigail, Ramanathan Subhadra, Bocian Maureen E, Spence M Anne, Smith Moyra

Source: BMC Medical Genetics, Vol 5, Iss 1, p 10 (2004)

Subject Terms: Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.biomedcentral.com/1471-2350/5/10; https://doaj.org/toc/1471-2350

Access URL: https://doaj.org/article/bc9450c2145d450b85ccdbc8fcf35cc0

Dopamine genes and ADHD

Authors: Swanson, J.M ^*, Flodman, Pamela, Kennedy, James, Spence, M.Anne, Moyzis, Robert, Schuck, Sabrina, Murias, Michael, Moriarity, Joan, Barr, Cathy, Smith, Moyra, Posner, Michael

Source: In Neuroscience and Biobehavioral Reviews 2000 24(1):21-25