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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 contribution of de novo coding mutations to meningomyelocele
Ha, Yoo-Jin Jiny, Nisal, Ashna, Tang, Isaac, Lee, Chanjae, Jhamb, Ishani, Wallace, Cassidy, Howarth, Robyn, Schroeder, Sarah, Vong, Keng Ioi, Meave, Naomi, Jiwani, Fiza, Barrows, Chelsea, Lee, Sangmoon, Jiang, Nan, Patel, Arzoo, Bagga, Krisha, Banka, Niyati, Friedman, Liana, Blanco, Francisco A., Yu, Seyoung, Rhee, Soeun, Jeong, Hui Su, Plutzer, Isaac, Major, Michael B., Benoit, Béatrice, Poüs, Christian, Heffner, Caleb, Kibar, Zoha, Bot, Gyang Markus, Northrup, Hope, Au, Kit Sing, Strain, Madison, Ashley-Koch, Allison E., Finnell, Richard H., Le, Joan T., Meltzer, Hal S., Araujo, Camila, Machado, Helio R., Stevenson, Roger E., Yurrita, Anna, Mumtaz, Sara, Ahmed, Awais, Khara, Mulazim Hussain, Mutchinick, Osvaldo M., Medina-Bereciartu, José Ramón, Hildebrandt, Friedhelm, Melikishvili, Gia, Marwan, Ahmed I., Capra, Valeria, Noureldeen, Mahmoud M., Salem, Aida M. S., Issa, Mahmoud Y., Zaki, Maha S., Xu, Libin, Lee, Ji Eun, Shin, Donghyuk, Alkelai, Anna, Shuldiner, Alan R., Kingsmore, Stephen F., Murray, Stephen A., Gee, Heon Yung, Miller, W. Todd, Tolias, Kimberley F., Wallingford, John B., Kim, Sangwoo, Gleeson, Joseph G.
Published in Nature (London) (08.05.2025)
Published in Nature (London) (08.05.2025)
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Journal Article
Early phenotypic features of aniridia-associated keratopathy and association with PAX6 coding mutations
Lagali, Neil, Wowra, Bogumil, Fries, Fabian Norbert, Latta, Lorenz, Moslemani, Kayed, Utheim, Tor Paaske, Wylegala, Edward, Seitz, Berthold, Käsmann-Kellner, Barbara
Published in The ocular surface (01.01.2020)
Published in The ocular surface (01.01.2020)
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Journal Article
DAGM: A novel modelling framework to assess the risk of HER2-negative breast cancer based on germline rare coding mutations
Yang, Mei, Fan, Yanhui, Wu, Zhi-Yong, Gu, Jin, Feng, Zhendong, Zhang, Qiangzu, Han, Shunhua, Zhang, Zhonghai, Li, Xu, Hsueh, Yi-Ching, Ni, Yanxiang, Li, Xiaoling, Li, Jieqing, Hu, Meixia, Li, Weiping, Gao, Hongfei, Yang, Ciqiu, Zhang, Chunming, Zhang, Liulu, Zhu, Teng, Cheng, Minyi, Ji, Fei, Xu, Juntao, Cui, Hening, Tan, Guangming, Zhang, Michael Q., Liang, Changhong, Liu, Zaiyi, Song, You-Qiang, Niu, Gang, Wang, Kun
Published in EBioMedicine (01.07.2021)
Published in EBioMedicine (01.07.2021)
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Journal Article
Independent Effects of Genetic Variations in Mannose-Binding Lectin Influence the Course of HIV Disease: The Advantage of Heterozygosity for Coding Mutations
Catano, Gabriel, Agan, Brian K., Kulkarni, Hemant, Telles, Vanessa, Marconi, Vincent C., Dolan, Matthew J., Ahuja, Sunil K.
Published in The Journal of Infectious Diseases (01.07.2008)
Published in The Journal of Infectious Diseases (01.07.2008)
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Journal Article
Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy
Vigouroux, C, Magré, J, Vantyghem, M C, Bourut, C, Lascols, O, Shackleton, S, Lloyd, D J, Guerci, B, Padova, G, Valensi, P, Grimaldi, A, Piquemal, R, Touraine, P, Trembath, R C, Capeau, J
Published in Diabetes (New York, N.Y.) (01.11.2000)
Published in Diabetes (New York, N.Y.) (01.11.2000)
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Journal Article
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity
Zarouchlioti, Christina, Sanchez-Pintado, Beatriz, Hafford Tear, Nathaniel J., Klein, Pontus, Liskova, Petra, Dulla, Kalyan, Semo, Ma’ayan, Vugler, Anthony A., Muthusamy, Kirithika, Dudakova, Lubica, Levis, Hannah J., Skalicka, Pavlina, Hysi, Pirro, Cheetham, Michael E., Tuft, Stephen J., Adamson, Peter, Hardcastle, Alison J., Davidson, Alice E.
Published in American journal of human genetics (05.04.2018)
Published in American journal of human genetics (05.04.2018)
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Journal Article
Insulin Gene Mutations Resulting in Early-Onset Diabetes: Marked Differences in Clinical Presentation, Metabolic Status, and Pathogenic Effect Through Endoplasmic Reticulum Retention
Meur, Gargi, Simon, Albane, Harun, Nasret, Virally, Marie, Dechaume, Aurélie, Bonnefond, Amélie, Fetita, Sabrina, Tarasov, Andrei I., Guillausseau, Pierre-Jean, Boesgaard, Trine Welløv, Pedersen, Oluf, Hansen, Torben, Polak, Michel, Gautier, Jean-François, Froguel, Philippe, Rutter, Guy A., Vaxillaire, Martine
Published in Diabetes (New York, N.Y.) (01.03.2010)
Published in Diabetes (New York, N.Y.) (01.03.2010)
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Journal Article
Regulation of Chondrocyte Metabolism and Osteoarthritis Development by Sirt5 Through Protein Lysine Malonylation
Liu, Huanhuan, Binoy, Anupama, Ren, Siqi, Martino, Thomas C., Miller, Anna E., Willis, Craig R. G., Veerabhadraiah, Shivakumar R., Bons, Joanna, Rose, Jacob P., Schilling, Birgit, Jurynec, Michael J., Zhu, Shouan
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.09.2025)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.09.2025)
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Journal Article
Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase
Paemka, Lily, Mahajan, Vinit B., Ehaideb, Salleh N., Skeie, Jessica M., Tan, Men Chee, Wu, Shu, Cox, Allison J., Sowers, Levi P., Gecz, Jozef, Jolly, Lachlan, Ferguson, Polly J., Darbro, Benjamin, Schneider, Amy, Scheffer, Ingrid E., Carvill, Gemma L., Mefford, Heather C., El-Shanti, Hatem, Wood, Stephen A., Manak, J. Robert, Bassuk, Alexander G.
Published in PLoS genetics (01.03.2015)
Published in PLoS genetics (01.03.2015)
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Journal Article
Mutations in BRIP1 confer high risk of ovarian cancer
Rafnar, Thorunn, Gudbjartsson, Daniel F, Sulem, Patrick, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Jonasdottir, Adalbjorg, Besenbacher, Soren, Lundin, Pär, Stacey, Simon N, Gudmundsson, Julius, Magnusson, Olafur T, le Roux, Louise, Orlygsdottir, Gudbjorg, Helgadottir, Hafdis T, Johannsdottir, Hrefna, Gylfason, Arnaldur, Tryggvadottir, Laufey, Jonasson, Jon G, de Juan, Ana, Ortega, Eugenia, Ramon-Cajal, Jose M, García-Prats, Maria D, Mayordomo, Carlos, Panadero, Angeles, Rivera, Fernando, Aben, Katja K H, van Altena, Anne M, Massuger, Leon F A G, Aavikko, Mervi, Kujala, Paula M, Staff, Synnöve, Aaltonen, Lauri A, Olafsdottir, Kristrun, Bjornsson, Johannes, Kong, Augustine, Salvarsdottir, Anna, Saemundsson, Hafsteinn, Olafsson, Karl, Benediktsdottir, Kristrun R, Gulcher, Jeffrey, Masson, Gisli, Kiemeney, Lambertus A, Mayordomo, Jose I, Thorsteinsdottir, Unnur, Stefansson, Kari
Published in Nature genetics (01.11.2011)
Published in Nature genetics (01.11.2011)
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Journal Article
Clinico‐genetic study of two Japanese pedigrees with hereditary spastic paraparesis and Alzheimer's disease
Rumore, Roberto, Montecchiani, Celeste, Gaudiello, Fabrizio, Miele, Marialuisa, Kawarai, Toshitaka, Orlacchio, Antonio
Published in Alzheimer's & dementia (01.12.2020)
Published in Alzheimer's & dementia (01.12.2020)
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Journal Article
Sirt5 regulates chondrocyte metabolism and osteoarthritis development through protein lysine malonylation
Liu, Huanhuan, Binoy, Anupama, Ren, Siqi, Martino, Thomas C, Miller, Anna E, Willis, Craig R G, Veerabhadraiah, Shivakumar R, Sukul, Abhijit, Bons, Joanna, Rose, Jacob P, Schilling, Birgit, Jurynec, Michael J, Zhu, Shouan
Published in bioRxiv (06.08.2024)
Published in bioRxiv (06.08.2024)
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Journal Article
Paper
Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase: e1005022
Paemka, Lily, Mahajan, Vinit B, Ehaideb, Salleh N, Skeie, Jessica M, Tan, Men Chee, Wu, Shu, Cox, Allison J, Sowers, Levi P, Gecz, Jozef, Jolly, Lachlan, Ferguson, Polly J, Darbro, Benjamin, Schneider, Amy, Scheffer, Ingrid E, Carvill, Gemma L, Mefford, Heather C, El-Shanti, Hatem, Wood, Stephen A, Manak, J Robert, Bassuk, Alexander G
Published in PLoS genetics (01.03.2015)
Published in PLoS genetics (01.03.2015)
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Journal Article
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked
Paemka, Lily, Mahajan, Vinit B, Ehaideb, Salleh N, Skeie, Jessica M, Tan, Men Chee, Wu, Shu, Cox, Allison J, Sowers, Levi P, Gecz, Jozef, Jolly, Lachlan, Ferguson, Polly J, Darbro, Benjamin, Schneider, Amy, Scheffer, Ingrid E, Carvill, Gemma L, Mefford, Heather C, El-Shanti, Hatem, Wood, Stephen A, Manak, J. Robert, Bassuk, Alexander G
Published in PLoS genetics (01.03.2015)
Published in PLoS genetics (01.03.2015)
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Journal Article