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Year Number of Results
1963 1
1964 1
1966 1
1967 1
1968 1
1969 1
1970 1
1972 2
1973 2
1974 2
1975 1
1976 3
1977 1
1978 3
1980 7
1981 2
1982 5
1983 2
1984 4
1988 1
1989 3
1994 1
1997 1
2000 2
2001 3
2002 2
2003 1
2004 1
2005 3
2006 1
2007 1
2008 2
2009 4
2010 5
2011 1
2012 1
2013 1
2014 2
2015 1
2016 6
2017 3
2018 1
2019 2
2020 6
2021 5
2022 5
2023 9
2024 12

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121 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.
Delineating clinical and developmental outcomes in STXBP1-related disorders.
Xian J, Thalwitzer KM, McKee J, Sullivan KR, Brimble E, Fitch E, Toib J, Kaufman MC, deCampo D, Cunningham K, Pierce SR, Goss J, Rigby CS, Syrbe S, Boland M, Prosser B, Fitter N, Ruggiero SM, Helbig I. Xian J, et al. Among authors: rigby cs. Brain. 2023 Dec 1;146(12):5182-5197. doi: 10.1093/brain/awad287. Brain. 2023. PMID: 38015929 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.
Preclinical development of a stabilized RH5 virus-like particle vaccine that induces improved antimalarial antibodies.
King LDW, Pulido D, Barrett JR, Davies H, Quinkert D, Lias AM, Silk SE, Pattinson DJ, Diouf A, Williams BG, McHugh K, Rodrigues A, Rigby CA, Strazza V, Suurbaar J, Rees-Spear C, Dabbs RA, Ishizuka AS, Zhou Y, Gupta G, Jin J, Li Y, Carnrot C, Minassian AM, Campeotto I, Fleishman SJ, Noe AR, MacGill RS, King CR, Birkett AJ, Soisson LA, Long CA, Miura K, Ashfield R, Skinner K, Howarth MR, Biswas S, Draper SJ. King LDW, et al. Among authors: rigby ca. Cell Rep Med. 2024 Jul 16;5(7):101654. doi: 10.1016/j.xcrm.2024.101654. Cell Rep Med. 2024. PMID: 39019011 Free PMC article.
Early life seizures and epileptic spasms in STXBP1-related disorders.
Thalwitzer KM, Xian J, de Campo D, Parthasarathy S, Magielski J, Sullivan KR, Goss J, Rigby CS, Boland M, Prosser B, Ruggiero SM, Syrbe S, Helbig I. Thalwitzer KM, et al. Among authors: rigby cs. Epilepsia. 2024 Mar;65(3):805-816. doi: 10.1111/epi.17886. Epub 2024 Jan 27. Epilepsia. 2024. PMID: 38279907
A disease concept model for STXBP1-related disorders.
Sullivan KR, Ruggiero SM, Xian J, Thalwitzer KM, Ali R, Stewart S, Cosico M, Steinberg J, Goss J, Pfalzer AC, Horning KJ, Weitzel N, Corey S, Conway L, Rigby CS, Bichell TJ, Helbig I. Sullivan KR, et al. Among authors: rigby cs. Epilepsia Open. 2023 Jun;8(2):320-333. doi: 10.1002/epi4.12688. Epub 2023 Apr 27. Epilepsia Open. 2023. PMID: 36625631 Free PMC article.
Early mortality in STXBP1-related disorders.
Furia F, Rigby CS, Scheffer IE, Allen N, Baker K, Hengsbach C, Kegele J, Goss J, Gorman K, Mala MI, Nicita F, Allan T, Spalice A, Weber Y; European STXBP1 consortium (ESCO); STXBP1 foundation; Rubboli G, Møller RS, Gardella E. Furia F, et al. Among authors: rigby cs. Neurol Sci. 2024 Oct 11. doi: 10.1007/s10072-024-07783-3. Online ahead of print. Neurol Sci. 2024. PMID: 39392525
Development of an improved blood-stage malaria vaccine targeting the essential RH5-CyRPA-RIPR invasion complex.
Williams BG, King LDW, Pulido D, Quinkert D, Lias AM, Silk SE, Ragotte RJ, Davies H, Barrett JR, McHugh K, Rigby CA, Alanine DGW, Barfod L, Shea MW, Cowley LA, Dabbs RA, Pattinson DJ, Douglas AD, Lyth OR, Illingworth JJ, Jin J, Carnrot C, Kotraiah V, Christen JM, Noe AR, MacGill RS, King CR, Birkett AJ, Soisson LA, Skinner K, Miura K, Long CA, Higgins MK, Draper SJ. Williams BG, et al. Among authors: rigby ca. Nat Commun. 2024 Jun 7;15(1):4857. doi: 10.1038/s41467-024-48721-3. Nat Commun. 2024. PMID: 38849365 Free PMC article.
121 results