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17 results

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Page 1
Autism in Women.
Ochoa-Lubinoff C, Makol BA, Dillon EF. Ochoa-Lubinoff C, et al. Neurol Clin. 2023 May;41(2):381-397. doi: 10.1016/j.ncl.2022.10.006. Epub 2023 Feb 19. Neurol Clin. 2023. PMID: 37030965 Review.
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.
SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research.
SPARK Consortium. Electronic address: pfeliciano@simonsfoundation.org; SPARK Consortium. SPARK Consortium. Electronic address: pfeliciano@simonsfoundation.org, et al. Neuron. 2018 Feb 7;97(3):488-493. doi: 10.1016/j.neuron.2018.01.015. Neuron. 2018. PMID: 29420931 Free PMC article. Review.
Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS).
Tjeertes J, Bacino CA, Bichell TJ, Bird LM, Bustamante M, Crean R, Jeste S, Komorowski RW, Krishnan ML, Miller MT, Nobbs D, Ochoa-Lubinoff C, Parkerson KA, Rotenberg A, Sadhwani A, Shen MD, Squassante L, Tan WH, Vincenzi B, Wheeler AC, Hipp JF, Berry-Kravis E. Tjeertes J, et al. Among authors: ochoa lubinoff c. J Neurodev Disord. 2023 Jul 26;15(1):22. doi: 10.1186/s11689-023-09494-w. J Neurodev Disord. 2023. PMID: 37495977 Free PMC article.
The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome.
Bird LM, Ochoa-Lubinoff C, Tan WH, Heimer G, Melmed RD, Rakhit A, Visootsak J, During MJ, Holcroft C, Burdine RD, Kolevzon A, Thibert RL. Bird LM, et al. Among authors: ochoa lubinoff c. Neurology. 2021 Feb 16;96(7):e1024-e1035. doi: 10.1212/WNL.0000000000011409. Epub 2020 Dec 21. Neurology. 2021. PMID: 33443117 Free PMC article. Clinical Trial.
17 results