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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2006 3
2007 2
2010 3
2011 1
2014 2
2015 2
2016 3
2017 4
2018 3
2019 10
2020 12
2021 9
2022 11
2023 10
2024 0

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66 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.
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.
Lymphocytic Extracellular Signal-Regulated Kinase Dysregulation in Autism Spectrum Disorder.
Erickson CA, Tessier CR, Gross C, Pedapati EV, Wink LK, Dominick KC, Shaffer RC, Rosselot H, Hong MP, Bantel AP, Berry-Kravis E, Horn PS, Adams R, Sweeney JA. Erickson CA, et al. Among authors: shaffer rc. J Am Acad Child Adolesc Psychiatry. 2023 May;62(5):582-592.e2. doi: 10.1016/j.jaac.2022.09.437. Epub 2023 Jan 10. J Am Acad Child Adolesc Psychiatry. 2023. PMID: 36638885
Neocortical localization and thalamocortical modulation of neuronal hyperexcitability contribute to Fragile X Syndrome.
Pedapati EV, Schmitt LM, Ethridge LE, Miyakoshi M, Sweeney JA, Liu R, Smith E, Shaffer RC, Dominick KC, Gilbert DL, Wu SW, Horn PS, Binder DK, Lamy M, Axford M, Erickson CA. Pedapati EV, et al. Among authors: shaffer rc. Commun Biol. 2022 May 11;5(1):442. doi: 10.1038/s42003-022-03395-9. Commun Biol. 2022. PMID: 35546357 Free PMC article.
Health Related Quality of Life in Autistic Youth and Their Families.
Nelson MA, Shaffer RC, Schmitt LM, Coffman MC, Horn PS, Reisinger DL, Erickson CA. Nelson MA, et al. Among authors: shaffer rc. J Autism Dev Disord. 2023 Aug 29. doi: 10.1007/s10803-023-06054-y. Online ahead of print. J Autism Dev Disord. 2023. PMID: 37642877
66 results