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Year Number of Results
1974 1
1982 1
1985 2
1987 3
1991 3
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1993 9
1994 4
1996 6
1997 5
1998 3
1999 3
2000 13
2001 10
2002 3
2003 1
2004 7
2005 4
2007 3
2008 6
2009 3
2010 2
2011 10
2012 8
2013 13
2014 9
2015 24
2016 21
2017 15
2018 16
2019 23
2020 21
2021 41
2022 39
2023 25
2024 36

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366 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.
FDX1 regulates cellular protein lipoylation through direct binding to LIAS.
Dreishpoon MB, Bick NR, Petrova B, Warui DM, Cameron A, Booker SJ, Kanarek N, Golub TR, Tsvetkov P. Dreishpoon MB, et al. Among authors: booker sj. J Biol Chem. 2023 Sep;299(9):105046. doi: 10.1016/j.jbc.2023.105046. Epub 2023 Jul 13. J Biol Chem. 2023. PMID: 37453661 Free PMC article.
Erratum.
Kandaswamy R, Stock PG, Miller J, White J, Booker SE, Israni AK, Snyder JJ. Kandaswamy R, et al. Among authors: booker se. Am J Transplant. 2022 Oct;22(10):2492. doi: 10.1111/ajt.17069. Am J Transplant. 2022. PMID: 36196497 Free article. No abstract available.
Functional spectrum and specificity of mitochondrial ferredoxins FDX1 and FDX2.
Schulz V, Basu S, Freibert SA, Webert H, Boss L, Mühlenhoff U, Pierrel F, Essen LO, Warui DM, Booker SJ, Stehling O, Lill R. Schulz V, et al. Among authors: booker sj. Nat Chem Biol. 2023 Feb;19(2):206-217. doi: 10.1038/s41589-022-01159-4. Epub 2022 Oct 24. Nat Chem Biol. 2023. PMID: 36280795 Free PMC article.
Discovery of a Covalent Inhibitor of KRASG12C (AMG 510) for the Treatment of Solid Tumors.
Lanman BA, Allen JR, Allen JG, Amegadzie AK, Ashton KS, Booker SK, Chen JJ, Chen N, Frohn MJ, Goodman G, Kopecky DJ, Liu L, Lopez P, Low JD, Ma V, Minatti AE, Nguyen TT, Nishimura N, Pickrell AJ, Reed AB, Shin Y, Siegmund AC, Tamayo NA, Tegley CM, Walton MC, Wang HL, Wurz RP, Xue M, Yang KC, Achanta P, Bartberger MD, Canon J, Hollis LS, McCarter JD, Mohr C, Rex K, Saiki AY, San Miguel T, Volak LP, Wang KH, Whittington DA, Zech SG, Lipford JR, Cee VJ. Lanman BA, et al. Among authors: booker sk. J Med Chem. 2020 Jan 9;63(1):52-65. doi: 10.1021/acs.jmedchem.9b01180. Epub 2019 Dec 24. J Med Chem. 2020. PMID: 31820981
Mössbauer spectroscopy of Fe/S proteins.
Pandelia ME, Lanz ND, Booker SJ, Krebs C. Pandelia ME, et al. Among authors: booker sj. Biochim Biophys Acta. 2015 Jun;1853(6):1395-405. doi: 10.1016/j.bbamcr.2014.12.005. Epub 2014 Dec 10. Biochim Biophys Acta. 2015. PMID: 25498248 Free article. Review.
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.
Radical S-Adenosylmethionine Enzymes in Human Health and Disease.
Landgraf BJ, McCarthy EL, Booker SJ. Landgraf BJ, et al. Among authors: booker sj. Annu Rev Biochem. 2016 Jun 2;85:485-514. doi: 10.1146/annurev-biochem-060713-035504. Epub 2016 May 4. Annu Rev Biochem. 2016. PMID: 27145839 Review.
366 results