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Rare Risk Variants Identification by Identity-by-Descent Mapping and Whole-Exome Sequencing Implicates Neuronal Development Pathways in Schizophrenia and Bipolar Disorder
Salvoro, C., Bortoluzzi, S., Coppe, A., Valle, G., Feltrin, E., Mostacciuolo, M. L., Vazza, G.
Published in Molecular neurobiology (01.09.2018)
Published in Molecular neurobiology (01.09.2018)
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Journal Article
Inference of identity by descent in population isolates and optimal sequencing studies
Glodzik, Dominik, Navarro, Pau, Vitart, Veronique, Hayward, Caroline, McQuillan, Ruth, Wild, Sarah H, Dunlop, Malcolm G, Rudan, Igor, Campbell, Harry, Haley, Chris, Wright, Alan F, Wilson, James F, McKeigue, Paul
Published in European journal of human genetics : EJHG (01.10.2013)
Published in European journal of human genetics : EJHG (01.10.2013)
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Journal Article
Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population
Nakka, Priyanka, Pattillo Smith, Samuel, O’Donnell-Luria, Anne H., McManus, Kimberly F., Agee, Michelle, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hicks, Barry, Hinds, David A., Jewett, Ethan M., Jiang, Yunxuan, Lin, Keng-Han, McCreight, Jennifer C., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McIntyre, Matthew H., Noblin, Elizabeth S., Northover, Carrie A.M., Pitts, Steven J., Poznik, G. David, Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wang, Xin, Mountain, Joanna L., Ramachandran, Sohini, Sathirapongsasuti, J. Fah
Published in American journal of human genetics (07.11.2019)
Published in American journal of human genetics (07.11.2019)
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Journal Article
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
Mitani, Tadahiro, Isikay, Sedat, Gezdirici, Alper, Gulec, Elif Yilmaz, Punetha, Jaya, Fatih, Jawid M., Herman, Isabella, Akay, Gulsen, Du, Haowei, Calame, Daniel G., Ayaz, Akif, Tos, Tulay, Yesil, Gozde, Aydin, Hatip, Geckinli, Bilgen, Elcioglu, Nursel, Candan, Sukru, Sezer, Ozlem, Erdem, Haktan Bagis, Gul, Davut, Demiral, Emine, Elmas, Muhsin, Yesilbas, Osman, Kilic, Betul, Gungor, Serdal, Ceylan, Ahmet C., Bozdogan, Sevcan, Ozalp, Ozge, Cicek, Salih, Aslan, Huseyin, Yalcintepe, Sinem, Topcu, Vehap, Bayram, Yavuz, Grochowski, Christopher M., Jolly, Angad, Dawood, Moez, Duan, Ruizhi, Jhangiani, Shalini N., Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Marafi, Dana, Akdemir, Zeynep Coban, Karaca, Ender, Carvalho, Claudia M.B., Gibbs, Richard A., Posey, Jennifer E., Lupski, James R., Pehlivan, Davut
Published in American journal of human genetics (07.10.2021)
Published in American journal of human genetics (07.10.2021)
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Journal Article
Identity-by-descent filtering as a tool for the identification of disease alleles in exome sequence data from distant relatives
Akula, Nirmala, Detera-Wadleigh, Sevilla, Shugart, Yin Yao, Nalls, Michael, Steele, Jo, McMahon, Francis J
Published in BMC proceedings (29.11.2011)
Published in BMC proceedings (29.11.2011)
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Journal Article
A Novel Approach to Search for Identity by Descent in Small Samples of Patients and Controls from the Same Mendelian Breeding Unit: A Pilot Study on Myopia
Heath, Simon, Robledo, Renato, Beggs, William, Feola, Gaetano, Parodo, Carlo, Rinaldi, Antoniettina, Contu, Licinio, Dana, Debra, Stambolian, Dwight, Siniscalco, Marcello
Published in Human heredity (01.01.2001)
Published in Human heredity (01.01.2001)
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Journal Article
Phenotypic and Genetic Analysis of a Large Family With Migraine-Associated Vertigo
Lee, Hane, Jen, Joanna C., Cha, Yoon-Hee, Nelson, Stanley F., Baloh, Robert W.
Published in Headache (01.11.2008)
Published in Headache (01.11.2008)
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Journal Article
Vitamin D receptor gene polymorphisms are linked to and associated with adult height
Xiong, D-H, Xu, F-H, Liu, P-Y, Shen, H, Long, J-R, Elze, L, Recker, R R, Deng, H-W
Published in Journal of medical genetics (01.03.2005)
Published in Journal of medical genetics (01.03.2005)
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Journal Article