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2017 1
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2019 1
2020 7
2021 3
2022 5
2023 2
2024 1

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21 results

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Page 1
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, Obiajulu JU, Wright JR, Murali SC, Xu SX, Brueggeman L, Thomas TR, Marchenko O, Fleisch C, Barns SD, Snyder LG, Han B, Chang TS, Turner TN, Harvey WT, Nishida A, O'Roak BJ, Geschwind DH; SPARK Consortium; Michaelson JJ, Volfovsky N, Eichler EE, Shen Y, Chung WK. Zhou X, et al. Nat Genet. 2022 Sep;54(9):1305-1319. doi: 10.1038/s41588-022-01148-2. Epub 2022 Aug 18. Nat Genet. 2022. PMID: 35982159 Free PMC article.
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T, Hoekzema K, Vecchio D, Wu H, Sulovari A, Coe BP, Gillentine MA, Wilfert AB, Perez-Jurado LA, Kvarnung M, Sleyp Y, Earl RK, Rosenfeld JA, Geisheker MR, Han L, Du B, Barnett C, Thompson E, Shaw M, Carroll R, Friend K, Catford R, Palmer EE, Zou X, Ou J, Li H, Guo H, Gerdts J, Avola E, Calabrese G, Elia M, Greco D, Lindstrand A, Nordgren A, Anderlid BM, Vandeweyer G, Van Dijck A, Van der Aa N, McKenna B, Hancarova M, Bendova S, Havlovicova M, Malerba G, Bernardina BD, Muglia P, van Haeringen A, Hoffer MJV, Franke B, Cappuccio G, Delatycki M, Lockhart PJ, Manning MA, Liu P, Scheffer IE, Brunetti-Pierri N, Rommelse N, Amaral DG, Santen GWE, Trabetti E, Sedláček Z, Michaelson JJ, Pierce K, Courchesne E, Kooy RF; SPARK Consortium; Nordenskjöld M, Romano C, Peeters H, Bernier RA, Gecz J, Xia K, Eichler EE. Wang T, et al. Nat Commun. 2020 Oct 1;11(1):4932. doi: 10.1038/s41467-020-18723-y. Nat Commun. 2020. PMID: 33004838 Free PMC article.
Discovery of 42 genome-wide significant loci associated with dyslexia.
Doust C, Fontanillas P, Eising E, Gordon SD, Wang Z, Alagöz G, Molz B; 23andMe Research Team; Quantitative Trait Working Group of the GenLang Consortium; Pourcain BS, Francks C, Marioni RE, Zhao J, Paracchini S, Talcott JB, Monaco AP, Stein JF, Gruen JR, Olson RK, Willcutt EG, DeFries JC, Pennington BF, Smith SD, Wright MJ, Martin NG, Auton A, Bates TC, Fisher SE, Luciano M. Doust C, et al. Nat Genet. 2022 Nov;54(11):1621-1629. doi: 10.1038/s41588-022-01192-y. Epub 2022 Oct 20. Nat Genet. 2022. PMID: 36266505 Free PMC article.
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, De Vries BBA, Vissers LELM, Nordenskjold M, Kvarnung M, Lindstrand A, Nordgren A, Gecz J, Iascone M, Cereda A, Scatigno A, Maitz S, Zanni G, Bertini E, Zweier C, Schuhmann S, Wiesener A, Pepper M, Panjwani H, Torti E, Abid F, Anselm I, Srivastava S, Atwal P, Bacino CA, Bhat G, Cobian K, Bird LM, Friedman J, Wright MS, Callewaert B, Petit F, Mathieu S, Afenjar A, Christensen CK, White KM, Elpeleg O, Berger I, Espineli EJ, Fagerberg C, Brasch-Andersen C, Hansen LK, Feyma T, Hughes S, Thiffault I, Sullivan B, Yan S, Keller K, Keren B, Mignot C, Kooy F, Meuwissen M, Basinger A, Kukolich M, Philips M, Ortega L, Drummond-Borg M, Lauridsen M, Sorensen K, Lehman A; CAUSES Study; Lopez-Rangel E, Levy P, Lessel D, Lotze T, Madan-Khetarpal S, Sebastian J, Vento J, Vats D, Benman LM, Mckee S, Mirzaa GM, Muss C, Pappas J, Peeters H, Romano C, Elia M, Galesi O, Simon MEH, van Gassen KLI, Simpson K, Stratton R, Syed S, Thevenon J, Palafoll IV, Vitobello A, Bournez M, Faivre L, Xia K; SPARK Consortium; Earl RK, Nowakowski T, Bernier RA, Eichler EE. Gillentine MA, et al. Genome Med. 2021 Apr 19;13(1):63. doi: 10.1186/s13073-021-00870-6. Genome Med. 2021. PMID: 33874999 Free PMC article.
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
Feliciano P, Zhou X, Astrovskaya I, Turner TN, Wang T, Brueggeman L, Barnard R, Hsieh A, Snyder LG, Muzny DM, Sabo A; SPARK Consortium; Gibbs RA, Eichler EE, O'Roak BJ, Michaelson JJ, Volfovsky N, Shen Y, Chung WK. Feliciano P, et al. NPJ Genom Med. 2019 Aug 23;4:19. doi: 10.1038/s41525-019-0093-8. eCollection 2019. NPJ Genom Med. 2019. PMID: 31452935 Free PMC article.
Language and reading impairments are associated with increased prevalence of non-right-handedness.
Abbondanza F, Dale PS, Wang CA, Hayiou-Thomas ME, Toseeb U, Koomar TS, Wigg KG, Feng Y, Price KM, Kerr EN, Guger SL, Lovett MW, Strug LJ, van Bergen E, Dolan CV, Tomblin JB, Moll K, Schulte-Körne G, Neuhoff N, Warnke A, Fisher SE, Barr CL, Michaelson JJ, Boomsma DI, Snowling MJ, Hulme C, Whitehouse AJO, Pennell CE, Newbury DF, Stein J, Talcott JB, Bishop DVM, Paracchini S. Abbondanza F, et al. Among authors: koomar ts. Child Dev. 2023 Jul-Aug;94(4):970-984. doi: 10.1111/cdev.13914. Epub 2023 Feb 13. Child Dev. 2023. PMID: 36780127 Free PMC article.
Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people.
Eising E, Mirza-Schreiber N, de Zeeuw EL, Wang CA, Truong DT, Allegrini AG, Shapland CY, Zhu G, Wigg KG, Gerritse ML, Molz B, Alagöz G, Gialluisi A, Abbondanza F, Rimfeld K, van Donkelaar M, Liao Z, Jansen PR, Andlauer TFM, Bates TC, Bernard M, Blokland K, Bonte M, Børglum AD, Bourgeron T, Brandeis D, Ceroni F, Csépe V, Dale PS, de Jong PF, DeFries JC, Démonet JF, Demontis D, Feng Y, Gordon SD, Guger SL, Hayiou-Thomas ME, Hernández-Cabrera JA, Hottenga JJ, Hulme C, Kere J, Kerr EN, Koomar T, Landerl K, Leonard GT, Lovett MW, Lyytinen H, Martin NG, Martinelli A, Maurer U, Michaelson JJ, Moll K, Monaco AP, Morgan AT, Nöthen MM, Pausova Z, Pennell CE, Pennington BF, Price KM, Rajagopal VM, Ramus F, Richer L, Simpson NH, Smith SD, Snowling MJ, Stein J, Strug LJ, Talcott JB, Tiemeier H, van der Schroeff MP, Verhoef E, Watkins KE, Wilkinson M, Wright MJ, Barr CL, Boomsma DI, Carreiras M, Franken MJ, Gruen JR, Luciano M, Müller-Myhsok B, Newbury DF, Olson RK, Paracchini S, Paus T, Plomin R, Reilly S, Schulte-Körne G, Tomblin JB, van Bergen E, Whitehouse AJO, Willcutt EG, St Pourcain B, Francks C, Fisher SE. Eising E, et al. Among authors: koomar t. Proc Natl Acad Sci U S A. 2022 Aug 30;119(35):e2202764119. doi: 10.1073/pnas.2202764119. Epub 2022 Aug 23. Proc Natl Acad Sci U S A. 2022. PMID: 35998220 Free PMC article.
21 results