HuGE Literature Finder
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| The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children. Frontiers in neurology 2019 10 505. Long Shasha, Zhou Hao, Li Shuang, Wang Tianqi, Ma Yu, Li Chunpei, Zhou Yuanfeng, Zhou Shuizhen, Wu Bingbing, Wang |
| Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation. Psychiatric genetics 2015 Nov . Carroll Liam S, Woolf Rebecca, Ibrahim Yousef, Williams Hywel J, Dwyer Sarah, Walters James, Kirov George, O'Donovan Michael C, Owen Michael |
| Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. Clinical genetics 2015 Jul . Dimassi S, Labalme A, Ville D, Calender A, Mignot C, Boutry-Kryza N, de Bellescize J, Rivier-Ringenbach C, Bourel-Ponchel E, Cheillan D, Simonet T, Maincent K, Rossi M, Till M, Edery P, Heron D, des Portes V, Sanlaville D, Lesca |
| Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia. Translational psychiatry 2015 5 e607. Rees E, Kirov G, Walters J T, Richards A L, Howrigan D, Kavanagh D H, Pocklington A J, Fromer M, Ruderfer D M, Georgieva L, Carrera N, Gormley P, Palta P, Williams H, Dwyer S, Johnson J S, Roussos P, Barker D D, Banks E, Milanova V, Rose S A, Chambert K, Mahajan M, Scolnick E M, Moran J L, Tsuang M T, Glatt S J, Chen W J, Hwu H-G, , Neale B M, Palotie A, Sklar P, Purcell S M, McCarroll S A, Holmans P, Owen M J, O'Donovan M |
| Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies. Epilepsia 2013 May 54 (5): e86-9. Heron Sarah E, Ong Yeh Sze, Yendle Simone C, McMahon Jacinta M, Berkovic Samuel F, Scheffer Ingrid E, Dibbens Leanne |
| Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (London, England) 2012 Nov 380 (9854): 1674-82. Rauch Anita, Wieczorek Dagmar, Graf Elisabeth, Wieland Thomas, Endele Sabine, Schwarzmayr Thomas, Albrecht Beate, Bartholdi Deborah, Beygo Jasmin, Di Donato Nataliya, Dufke Andreas, Cremer Kirsten, Hempel Maja, Horn Denise, Hoyer Juliane, Joset Pascal, Röpke Albrecht, Moog Ute, Riess Angelika, Thiel Christian T, Tzschach Andreas, Wiesener Antje, Wohlleber Eva, Zweier Christiane, Ekici Arif B, Zink Alexander M, Rump Andreas, Meisinger Christa, Grallert Harald, Sticht Heinrich, Schenck Annette, Engels Hartmut, Rappold Gudrun, Schröck Evelin, Wieacker Peter, Riess Olaf, Meitinger Thomas, Reis André, Strom Tim |
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