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Year Number of Results
2017 2
2019 1
2020 5
2021 3
2022 4
2023 3
2024 2

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20 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.
Activity-induced gene expression in the human brain.
Chatterjee S, Park BJ, Vanrobaeys Y, Heiney SA, Rhone AE, Nourski KV, Langmack L, Mukherjee U, Kovach CK, Kocsis Z, Kikuchi Y, Petkov CI, Hefti MM, Bahl E, Michaelson JJ, Kawasaki H, Oya H, Howard MA 3rd, Nickl-Jockschat T, Lin LC, Abel T. Chatterjee S, et al. Among authors: bahl e. bioRxiv [Preprint]. 2023 Sep 21:2023.09.21.558812. doi: 10.1101/2023.09.21.558812. bioRxiv. 2023. PMID: 37790527 Free PMC article. Preprint.
p53-mediated neurodegeneration in the absence of the nuclear protein Akirin2.
Peek SL, Bosch PJ, Bahl E, Iverson BJ, Parida M, Bais P, Manak JR, Michaelson JJ, Burgess RW, Weiner JA. Peek SL, et al. Among authors: bahl e. iScience. 2022 Jan 25;25(2):103814. doi: 10.1016/j.isci.2022.103814. eCollection 2022 Feb 18. iScience. 2022. PMID: 35198879 Free PMC article.
Endoplasmic reticulum chaperone genes encode effectors of long-term memory.
Chatterjee S, Bahl E, Mukherjee U, Walsh EN, Shetty MS, Yan AL, Vanrobaeys Y, Lederman JD, Giese KP, Michaelson J, Abel T. Chatterjee S, et al. Among authors: bahl e. Sci Adv. 2022 Mar 25;8(12):eabm6063. doi: 10.1126/sciadv.abm6063. Epub 2022 Mar 23. Sci Adv. 2022. PMID: 35319980 Free PMC article.
20 results