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

Year Number of Results
2002 1
2004 2
2005 1
2007 3
2008 3
2009 4
2010 6
2011 2
2012 8
2013 5
2014 5
2015 10
2016 11
2017 13
2018 5
2019 6
2020 5
2021 3
2022 5
2023 7
2024 2

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90 results

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Page 1
Loss of succinyl-CoA synthetase in mouse forebrain results in hypersuccinylation with perturbed neuronal transcription and metabolism.
Lancaster MS, Kim B, Doud EH, Tate MD, Sharify AD, Gao H, Chen D, Simpson E, Gillespie P, Chu X, Miller MJ, Wang Y, Liu Y, Mosley AL, Kim J, Graham BH. Lancaster MS, et al. Among authors: graham bh. Cell Rep. 2023 Oct 31;42(10):113241. doi: 10.1016/j.celrep.2023.113241. Epub 2023 Oct 17. Cell Rep. 2023. PMID: 37819759 Free PMC article.
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Bosch E, Popp B, Güse E, Skinner C, van der Sluijs PJ, Maystadt I, Pinto AM, Renieri A, Bruno LP, Granata S, Marcelis C, Baysal Ö, Hartwich D, Holthöfer L, Isidor B, Cogne B, Wieczorek D, Capra V, Scala M, De Marco P, Ognibene M, Jamra RA, Platzer K, Carter LB, Kuismin O, van Haeringen A, Maroofian R, Valenzuela I, Cuscó I, Martinez-Agosto JA, Rabani AM, Mefford HC, Pereira EM, Close C, Anyane-Yeboa K, Wagner M, Hannibal MC, Zacher P, Thiffault I, Beunders G, Umair M, Bhola PT, McGinnis E, Millichap J, van de Kamp JM, Prijoles EJ, Dobson A, Shillington A, Graham BH, Garcia EJ, Galindo MK, Ropers FG, Nibbeling EAR, Hubbard G, Karimov C, Goj G, Bend R, Rath J, Morrow MM, Millan F, Salpietro V, Torella A, Nigro V, Kurki M, Stevenson RE, Santen GWE, Zweier M, Campeau PM, Severino M, Reis A, Accogli A, Vasileiou G. Bosch E, et al. Among authors: graham bh. Genet Med. 2023 Nov;25(11):100950. doi: 10.1016/j.gim.2023.100950. Epub 2023 Aug 5. Genet Med. 2023. PMID: 37551667 Free article.
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
Flowers M, Dickson A, Miller MJ, Spector E, Enns GM, Baudet H, Pasquali M, Racacho L, Sadre-Bazzaz K, Wen T, Fogarty M, Fernandez R, Weaver MA, Feigenbaum A, Graham BH, Mao R. Flowers M, et al. Among authors: graham bh. Mol Genet Metab. 2023 Nov;140(3):107668. doi: 10.1016/j.ymgme.2023.107668. Epub 2023 Jul 26. Mol Genet Metab. 2023. PMID: 37549443
Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Sen K, Burrage LC, Chapman KA, Ginevic I, Mazariegos GV, Graham BH; ACMG Therapeutics Committee. Electronic address: documents@acmg.net. Sen K, et al. Among authors: graham bh. Genet Med. 2023 Feb;25(2):100337. doi: 10.1016/j.gim.2022.11.005. Epub 2022 Dec 19. Genet Med. 2023. PMID: 36534118 Free article. No abstract available.
Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.
Buchh M, Gillespie PJ, Treat K, Abreu MA, Schwantes-An TL, Helm BM, Fang F, Xuei X, Mantcheva L, Suhrie KR, Graham BH, Conboy E, Vetrini F. Buchh M, et al. Among authors: graham bh. Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006254. doi: 10.1101/mcs.a006254. Print 2022 Dec. Cold Spring Harb Mol Case Stud. 2022. PMID: 36442996 Free PMC article.
90 results