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Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
Lindstrand, Anna, Frangakis, Stephan, Carvalho, Claudia M.B., Richardson, Ellen B., McFadden, Kelsey A., Willer, Jason R., Pehlivan, Davut, Liu, Pengfei, Pediaditakis, Igor L., Sabo, Aniko, Lewis, Richard Alan, Banin, Eyal, Lupski, James R., Davis, Erica E., Katsanis, Nicholas
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
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Journal Article
Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities
Talkowski, Michael E., Maussion, Gilles, Crapper, Liam, Rosenfeld, Jill A., Blumenthal, Ian, Hanscom, Carrie, Chiang, Colby, Lindgren, Amelia, Pereira, Shahrin, Ruderfer, Douglas, Diallo, Alpha B., Lopez, Juan Pablo, Turecki, Gustavo, Chen, Elizabeth S., Gigek, Carolina, Harris, David J., Lip, Va, An, Yu, Biagioli, Marta, MacDonald, Marcy E., Lin, Michael, Haggarty, Stephen J., Sklar, Pamela, Purcell, Shaun, Kellis, Manolis, Schwartz, Stuart, Shaffer, Lisa G., Natowicz, Marvin R., Shen, Yiping, Morton, Cynthia C., Gusella, James F., Ernst, Carl
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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Journal Article
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3
Vetro, Annalisa, Dehghani, Mohammad Reza, Kraoua, Lilia, Giorda, Roberto, Beri, Silvana, Cardarelli, Laura, Merico, Maurizio, Manolakos, Emmanouil, Parada-Bustamante, Alexis, Castro, Andrea, Radi, Orietta, Camerino, Giovanna, Brusco, Alfredo, Sabaghian, Marjan, Sofocleous, Crystalena, Forzano, Francesca, Palumbo, Pietro, Palumbo, Orazio, Calvano, Savino, Zelante, Leopoldo, Grammatico, Paola, Giglio, Sabrina, Basly, Mohamed, Chaabouni, Myriam, Carella, Massimo, Russo, Gianni, Bonaglia, Maria Clara, Zuffardi, Orsetta
Published in European journal of human genetics : EJHG (01.08.2015)
Published in European journal of human genetics : EJHG (01.08.2015)
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Journal Article
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements
Zepeda-Mendoza, Cinthya J., Ibn-Salem, Jonas, Kammin, Tammy, Harris, David J., Rita, Debra, Gripp, Karen W., MacKenzie, Jennifer J., Gropman, Andrea, Graham, Brett, Shaheen, Ranad, Alkuraya, Fowzan S., Brasington, Campbell K., Spence, Edward J., Masser-Frye, Diane, Bird, Lynne M., Spiegel, Erica, Sparkes, Rebecca L., Ordulu, Zehra, Talkowski, Michael E., Andrade-Navarro, Miguel A., Robinson, Peter N., Morton, Cynthia C.
Published in American journal of human genetics (03.08.2017)
Published in American journal of human genetics (03.08.2017)
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Journal Article
Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome
Bondy, Carolyn, Bakalov, Vladimir K, Cheng, Clara, Olivieri, Laura, Rosing, Douglas R, Arai, Andrew E
Published in Journal of medical genetics (01.10.2013)
Published in Journal of medical genetics (01.10.2013)
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Journal Article
Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication
Beck, Christine R., Carvalho, Claudia M. B., Banser, Linda, Gambin, Tomasz, Stubbolo, Danielle, Yuan, Bo, Sperle, Karen, McCahan, Suzanne M., Henneke, Marco, Seeman, Pavel, Garbern, James Y., Hobson, Grace M., Lupski, James R.
Published in PLoS genetics (01.03.2015)
Published in PLoS genetics (01.03.2015)
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Journal Article
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders
Murcia Pienkowski, Victor, Kucharczyk, Marzena, Młynek, Marlena, Szczałuba, Krzysztof, Rydzanicz, Małgorzata, Poszewiecka, Barbara, Skórka, Agata, Sykulski, Maciej, Biernacka, Anna, Koppolu, Agnieszka Anna, Posmyk, Renata, Walczak, Anna, Kosińska, Joanna, Krajewski, Paweł, Castaneda, Jennifer, Obersztyn, Ewa, Jurkiewicz, Elżbieta, Śmigiel, Robert, Gambin, Anna, Chrzanowska, Krystyna, Krajewska-Walasek, Małgorzata, Płoski, Rafał
Published in Journal of medical genetics (01.02.2019)
Published in Journal of medical genetics (01.02.2019)
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Journal Article
Single molecule quantitation and sequencing of rare translocations using microfluidic nested digital PCR
Shuga, Joe, Zeng, Yong, Novak, Richard, Lan, Qing, Tang, Xiaojiang, Rothman, Nathaniel, Vermeulen, Roel, Li, Laiyu, Hubbard, Alan, Zhang, Luoping, Mathies, Richard A., Smith, Martyn T.
Published in Nucleic acids research (01.09.2013)
Published in Nucleic acids research (01.09.2013)
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Journal Article
An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis
Morris, D. W., Pearson, R. D., Cormican, P., Kenny, E. M., O'Dushlaine, C. T., Perreault, L.-P. L., Giannoulatou, E., Tropea, D., Maher, B. S., Wormley, B., Kelleher, E., Fahey, C., Molinos, I., Bellini, S., Pirinen, M., Strange, A., Freeman, C., Thiselton, D. L., Elves, R. L., Regan, R., Ennis, S., Dinan, T. G., McDonald, C., Murphy, K. C., O'Callaghan, E., Waddington, J. L., Walsh, D., O'Donovan, M., Grozeva, D., Craddock, N., Stone, J., Scolnick, E., Purcell, S., Sklar, P., Coe, B., Eichler, E. E., Ophoff, R., Buizer, J., Szatkiewicz, J., Hultman, C., Sullivan, P., Gurling, H., Mcquillin, A., St Clair, D., Rees, E., Kirov, G., Walters, J., Blackwood, D., Johnstone, M., Donohoe, G., O'Neill, F. A., Kendler, K. S., Gill, M., Riley, B. P., Spencer, C. C. A., Corvin, A.
Published in Human molecular genetics (15.06.2014)
Published in Human molecular genetics (15.06.2014)
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Journal Article
Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes
Carvalho, Claudia M.B., Vasanth, Shivakumar, Shinawi, Marwan, Russell, Chad, Ramocki, Melissa B., Brown, Chester W., Graakjaer, Jesper, Skytte, Anne-Bine, Vianna-Morgante, Angela M., Krepischi, Ana C.V., Patel, Gayle S., Immken, LaDonna, Aleck, Kyrieckos, Lim, Cynthia, Cheung, Sau Wai, Rosenberg, Carla, Katsanis, Nicholas, Lupski, James R.
Published in American journal of human genetics (06.11.2014)
Published in American journal of human genetics (06.11.2014)
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Journal Article
Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations
Moysés-Oliveira, Mariana, Guilherme, Roberta dos Santos, Dantas, Anelisa Gollo, Ueta, Renata, Perez, Ana Beatriz, Haidar, Mauro, Canonaco, Rosane, Meloni, Vera Ayres, Kosyakova, Nadezda, Liehr, Thomas, Carvalheira, Gianna Maria, Melaragno, Maria Isabel
Published in Fertility and sterility (01.05.2015)
Published in Fertility and sterility (01.05.2015)
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Journal Article
Implication of LRRC4C and DPP6 in neurodevelopmental disorders
Maussion, Gilles, Cruceanu, Cristiana, Rosenfeld, Jill A., Bell, Scott C., Jollant, Fabrice, Szatkiewicz, Jin, Collins, Ryan L., Hanscom, Carrie, Kolobova, Ilaria, de Champfleur, Nicolas Menjot, Blumenthal, Ian, Chiang, Colby, Ota, Vanessa, Hultman, Christina, O'Dushlaine, Colm, McCarroll, Steve, Alda, Martin, Jacquemont, Sebastien, Ordulu, Zehra, Marshall, Christian R., Carter, Melissa T., Shaffer, Lisa G., Sklar, Pamela, Girirajan, Santhosh, Morton, Cynthia C., Gusella, James F., Turecki, Gustavo, Stavropoulos, Dimitri J., Sullivan, Patrick F., Scherer, Stephen W., Talkowski, Michael E., Ernst, Carl
Published in American journal of medical genetics. Part A (01.02.2017)
Published in American journal of medical genetics. Part A (01.02.2017)
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Journal Article
A novel duplication downstream of BMP2 in a Chinese family with Brachydactyly type A2 (BDA2)
Wang, Wen-bo, Jia, Ya-chao, Zhang, Zeng, Xu, Jia, Zuo, Rong-tai, Kang, Qing-lin
Published in Gene (05.02.2018)
Published in Gene (05.02.2018)
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Journal Article
Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies
Esplin, Edward D., Li, Ben, Slavotinek, Anne, Novelli, Antonio, Battaglia, Agatino, Clark, Robin, Curry, Cynthia, Hudgins, Louanne
Published in American journal of medical genetics. Part A (01.08.2014)
Published in American journal of medical genetics. Part A (01.08.2014)
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Journal Article
Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay
Schilit, Samantha LP, Currall, Benjamin B, Yao, Ruen, Hanscom, Carrie, Collins, Ryan L, Pillalamarri, Vamsee, Lee, Dong-Young, Kammin, Tammy, Zepeda-Mendoza, Cinthya J, Mononen, Tarja, Nolan, Lisa S, Gusella, James F, Talkowski, Michael E, Shen, Jun, Morton, Cynthia C
Published in European journal of human genetics : EJHG (01.11.2016)
Published in European journal of human genetics : EJHG (01.11.2016)
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Journal Article
Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome
Helgeson, Maria, Keller-Ramey, Jennifer, Knight Johnson, Amy, Lee, Jennifer A., Magner, Daniel B., Deml, Brett, Deml, Jacea, Hu, Ying-Ying, Li, Zejuan, Donato, Kirsten, Das, Soma, Laframboise, Rachel, Tremblay, Sandra, Krantz, Ian, Noon, Sarah, Hoganson, George, Burton, Jennifer, Schaaf, Christian P., del Gaudio, Daniela
Published in Journal of human genetics (01.03.2018)
Published in Journal of human genetics (01.03.2018)
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Journal Article