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The contribution of de novo coding mutations to autism spectrum disorder
Iossifov, Ivan, O’Roak, Brian J., Sanders, Stephan J., Ronemus, Michael, Krumm, Niklas, Levy, Dan, Stessman, Holly A., Witherspoon, Kali T., Vives, Laura, Patterson, Karynne E., Smith, Joshua D., Paeper, Bryan, Nickerson, Deborah A., Dea, Jeanselle, Dong, Shan, Gonzalez, Luis E., Mandell, Jeffrey D., Mane, Shrikant M., Murtha, Michael T., Sullivan, Catherine A., Walker, Michael F., Waqar, Zainulabedin, Wei, Liping, Willsey, A. Jeremy, Yamrom, Boris, Lee, Yoon-ha, Grabowska, Ewa, Dalkic, Ertugrul, Wang, Zihua, Marks, Steven, Andrews, Peter, Leotta, Anthony, Kendall, Jude, Hakker, Inessa, Rosenbaum, Julie, Ma, Beicong, Rodgers, Linda, Troge, Jennifer, Narzisi, Giuseppe, Yoon, Seungtai, Schatz, Michael C., Ye, Kenny, McCombie, W. Richard, Shendure, Jay, Eichler, Evan E., State, Matthew W., Wigler, Michael
Published in Nature (London) (13.11.2014)
Published in Nature (London) (13.11.2014)
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Journal Article
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Brand, Harrison, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Alkuraya, Fowzan S, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Bernstein, Jonathan A, Blumenthal, Ian, Bongers, Ernie M H F, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, Earl, Dawn L, Ferguson, Heather L, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Gliem, Troy, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hill, Rosamund, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Koolen, David A, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Hong, Liao, Eric C, Lose, Edward J, Lucente, Diane, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Masser-Frye, Diane, McClellan, Michael W, Menten, Björn, Middelkamp, Sjors, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Ruliera, Jayla, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Tagoe, Julia, Thakuria, Joseph V, van de Kamp, Jiddeke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Kloosterman, Wigard P, Morton, Cynthia C, Talkowski, Michael E
Published in Nature genetics (01.01.2017)
Published in Nature genetics (01.01.2017)
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Journal Article
A large data resource of genomic copy number variation across neurodevelopmental disorders
Zarrei, Mehdi, Burton, Christie L., Engchuan, Worrawat, Young, Edwin J., Higginbotham, Edward J., MacDonald, Jeffrey R., Trost, Brett, Chan, Ada J. S., Walker, Susan, Lamoureux, Sylvia, Heung, Tracy, Mojarad, Bahareh A., Kellam, Barbara, Paton, Tara, Faheem, Muhammad, Miron, Karin, Lu, Chao, Wang, Ting, Samler, Kozue, Wang, Xiaolin, Costain, Gregory, Hoang, Ny, Pellecchia, Giovanna, Wei, John, Patel, Rohan V., Thiruvahindrapuram, Bhooma, Roifman, Maian, Merico, Daniele, Goodale, Tara, Drmic, Irene, Speevak, Marsha, Howe, Jennifer L., Yuen, Ryan K. C., Buchanan, Janet A., Vorstman, Jacob A. S., Marshall, Christian R., Wintle, Richard F., Rosenberg, David R., Hanna, Gregory L., Woodbury-Smith, Marc, Cytrynbaum, Cheryl, Zwaigenbaum, Lonnie, Elsabbagh, Mayada, Flanagan, Janine, Fernandez, Bridget A., Carter, Melissa T., Szatmari, Peter, Roberts, Wendy, Lerch, Jason, Liu, Xudong, Nicolson, Rob, Georgiades, Stelios, Weksberg, Rosanna, Arnold, Paul D., Bassett, Anne S., Crosbie, Jennifer, Schachar, Russell, Stavropoulos, Dimitri J., Anagnostou, Evdokia, Scherer, Stephen W.
Published in Npj genomic medicine (07.10.2019)
Published in Npj genomic medicine (07.10.2019)
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Journal Article
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
Golzio, Christelle, Willer, Jason, Talkowski, Michael E., Oh, Edwin C., Taniguchi, Yu, Jacquemont, Sébastien, Reymond, Alexandre, Sun, Mei, Sawa, Akira, Gusella, James F., Kamiya, Atsushi, Beckmann, Jacques S., Katsanis, Nicholas
Published in Nature (London) (17.05.2012)
Published in Nature (London) (17.05.2012)
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Journal Article
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
Santen, Gijs W E, Aten, Emmelien, Sun, Yu, Almomani, Rowida, Gilissen, Christian, Nielsen, Maartje, Kant, Sarina G, Snoeck, Irina N, Peeters, Els A J, Hilhorst-Hofstee, Yvonne, Wessels, Marja W, den Hollander, Nicolette S, Ruivenkamp, Claudia A L, van Ommen, Gert-Jan B, Breuning, Martijn H, den Dunnen, Johan T, van Haeringen, Arie, Kriek, Marjolein
Published in Nature genetics (01.04.2012)
Published in Nature genetics (01.04.2012)
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Journal Article
An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders
Chen, Siwei, Fragoza, Robert, Klei, Lambertus, Liu, Yuan, Wang, Jiebiao, Roeder, Kathryn, Devlin, Bernie, Yu, Haiyuan
Published in Nature genetics (01.07.2018)
Published in Nature genetics (01.07.2018)
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Journal Article
Clinical implications of somatic allele expansion in female FMR1 premutation carriers
Aishworiya, Ramkumar, Hwang, Ye Hyun, Santos, Ellery, Hayward, Bruce, Usdin, Karen, Durbin-Johnson, Blythe, Hagerman, Randi, Tassone, Flora
Published in Scientific reports (29.04.2023)
Published in Scientific reports (29.04.2023)
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Journal Article
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
Friedman, Jennifer, Smith, Desiree E., Issa, Mahmoud Y., Stanley, Valentina, Wang, Rengang, Mendes, Marisa I., Wright, Meredith S., Wigby, Kristen, Hildreth, Amber, Crawford, John R., Koehler, Alanna E., Chowdhury, Shimul, Nahas, Shareef, Zhai, Liting, Xu, Zhiwen, Lo, Wing-Sze, James, Kiely N., Musaev, Damir, Accogli, Andrea, Guerrero, Kether, Tran, Luan T., Omar, Tarek E. I., Ben-Omran, Tawfeg, Dimmock, David, Kingsmore, Stephen F., Salomons, Gajja S., Zaki, Maha S., Bernard, Geneviève, Gleeson, Joseph G.
Published in Nature communications (12.02.2019)
Published in Nature communications (12.02.2019)
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Journal Article
Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy
Ostrander, Betsy E. P., Butterfield, Russell J., Pedersen, Brent S., Farrell, Andrew J., Layer, Ryan M., Ward, Alistair, Miller, Chase, DiSera, Tonya, Filloux, Francis M., Candee, Meghan S., Newcomb, Tara, Bonkowsky, Joshua L., Marth, Gabor T., Quinlan, Aaron R.
Published in Npj genomic medicine (13.08.2018)
Published in Npj genomic medicine (13.08.2018)
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Journal Article
Genomic diagnostics within a medically underserved population: efficacy and implications
Strauss, Kevin A., Gonzaga-Jauregui, Claudia, Brigatti, Karlla W., Williams, Katie B., King, Alejandra K., Van Hout, Cristopher, Robinson, Donna L., Young, Millie, Praveen, Kavita, Heaps, Adam D., Kuebler, Mindy, Baras, Aris, Reid, Jeffrey G., Overton, John D., Dewey, Frederick E., Jinks, Robert N., Finnegan, Ian, Mellis, Scott J., Shuldiner, Alan R., Puffenberger, Erik G.
Published in Genetics in medicine (01.01.2018)
Published in Genetics in medicine (01.01.2018)
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Journal Article
Cell-specific expression biases in human cortex of genes associated with neurodevelopmental disorders
Russ, Jeffrey B., Stone, Alexa C., Maney, Kayli, Morris, Lauren C., Wright, Caroline F., Hurst, Jillian H., Cohen, Jennifer L.
Published in Scientific reports (02.07.2025)
Published in Scientific reports (02.07.2025)
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Journal Article
Infantile zinc deficiency: Association with autism spectrum disorders
Yasuda, Hiroshi, Yoshida, Kazuya, Yasuda, Yuichi, Tsutsui, Toyoharu
Published in Scientific reports (03.11.2011)
Published in Scientific reports (03.11.2011)
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Journal Article
Combining fMRI and DISC1 gene haplotypes to understand working memory-related brain activity in schizophrenia
Guardiola-Ripoll, Maria, Sotero-Moreno, Alejandro, Almodóvar-Payá, Carmen, Hostalet, Noemí, Guerrero-Pedraza, Amalia, Ramiro, Núria, Ortiz-Gil, Jordi, Arias, Bárbara, Madre, Mercè, Soler-Vidal, Joan, Salvador, Raymond, McKenna, Peter J., Pomarol-Clotet, Edith, Fatjó-Vilas, Mar
Published in Scientific reports (05.05.2022)
Published in Scientific reports (05.05.2022)
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Journal Article
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein
Milev, Miroslav P., Stanga, Daniela, Schänzer, Anne, Nascimento, Andrés, Saint-Dic, Djenann, Ortez, Carlos, Natera-de Benito, Daniel, Barrios, Desiré González, Colomer, Jaume, Badosa, Carmen, Jou, Cristina, Gallano, Pia, Gonzalez-Quereda, Lidia, Töpf, Ana, Johnson, Katherine, Straub, Volker, Hahn, Andreas, Sacher, Michael, Jimenez-Mallebrera, Cecilia
Published in Scientific reports (01.10.2019)
Published in Scientific reports (01.10.2019)
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Journal Article
Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay
Liu, Yi, Lv, Yuqiang, Zarrei, Mehdi, Dong, Rui, Yang, Xiaomeng, Higginbotham, Edward J., Li, Yue, Zhao, Dongmei, Song, Fengling, Yang, Yali, Zhang, Haiyan, Wang, Ying, Scherer, Stephen W., Gai, Zhongtao
Published in Npj genomic medicine (12.01.2022)
Published in Npj genomic medicine (12.01.2022)
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Journal Article
Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals
Liu, Xiaoxi, Kawashima, Minae, Miyagawa, Taku, Otowa, Takeshi, Latt, Khun Zaw, Thiri, Myo, Nishida, Hisami, Sugiyama, Toshiro, Tsurusaki, Yoshinori, Matsumoto, Naomichi, Mabuchi, Akihiko, Tokunaga, Katsushi, Sasaki, Tsukasa
Published in Human genome variation (30.07.2015)
Published in Human genome variation (30.07.2015)
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Journal Article