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Year Number of Results
1987 2
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1995 2
1996 1
1997 1
1998 1
1999 1
2003 1
2004 1
2005 2
2006 2
2007 2
2008 2
2009 3
2010 3
2011 2
2012 3
2013 1
2014 4
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2017 2
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2019 6
2020 6
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84 results

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Page 1
Systemic inflammation and lymphocyte activation precede rheumatoid arthritis.
He Z, Glass MC, Venkatesan P, Feser ML, Lazaro L, Okada LY, Tran NTT, He YD, Zaim SR, Bennett CE, Ravisankar P, Dornisch EM, Arishi NA, Asamoah AG, Barzideh S, Becker LA, Bemis EA, Buckner JH, Collora CE, Criley MAL, Demoruelle MK, Fleischer CL, Garber J, Genge PC, Gong Q, Graybuck LT, Gustafson CE, Hattel BC, Hernandez V, Heubeck AT, Kawelo EK, Krishnan U, Kuan EL, Kuhn KA, LaFrance CM, Lee KJ, Li R, Lord C, Mettey RR, Moss L, Musgrove B, Nguyen K, Ochoa A, Parthasarathy V, Pebworth MP, Pedrick C, Peng T, Phalen CG, Reading J, Roll CR, Seifert JA, Siedschlag MD, Speake C, Striebich CC, Stuckey TJ, Swanson EG, Takada H, Thai T, Thomson ZJ, Trieu N, Tsaltskan V, Wang W, Weiss MDA, Westermann A, Zhang F, Boyle DL, Goldrath AW, Bumol TF, Li XJ, Holers VM, Skene PJ, Savage AK, Firestein GS, Deane KD, Torgerson TR, Gillespie MA. He Z, et al. Among authors: asamoah ag. bioRxiv [Preprint]. 2024 Nov 12:2024.10.25.620344. doi: 10.1101/2024.10.25.620344. bioRxiv. 2024. Update in: Sci Transl Med. 2025 Sep 24;17(817):eadt7214. doi: 10.1126/scitranslmed.adt7214. PMID: 39554042 Free PMC article. Updated. Preprint.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics; Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study; Hedrich UBS, Scheffer IE, Helbig I… See abstract for full author list ➔ Helbig KL, et al. Among authors: asamoah a. Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Am J Hum Genet. 2018. PMID: 30343943 Free PMC article.
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG. Stankiewicz P, et al. Among authors: asamoah a. Hum Mutat. 2012 Jan;33(1):165-79. doi: 10.1002/humu.21614. Epub 2011 Nov 2. Hum Mutat. 2012. PMID: 21948486 Free PMC article.
Emicizumab Associated Rhabdomyolysis in Hemophilia A.
Wilson JA, Hayden S, Asamoah A, Sharma VR, Jennings DC, Raj AB. Wilson JA, et al. Among authors: asamoah a. Clin Hematol Int. 2020 Oct 7;2(4):165-167. doi: 10.2991/chi.k.200924.001. eCollection 2020 Dec. Clin Hematol Int. 2020. PMID: 34595457 Free PMC article.
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
Syeda SB, Lone MA, Mohassel P, Donkervoort S, Munot P, França MC Jr, Galarza-Brito JE, Eckenweiler M, Asamoah A, Gable K, Majumdar A, Schumann A, Gupta SD, Lakhotia A, Shieh PB, Foley AR, Jackson KE, Chao KR, Winder TL, Catapano F, Feng L, Kirschner J, Muntoni F, Dunn TM, Hornemann T, Bönnemann CG. Syeda SB, et al. Among authors: asamoah a. J Neurol Neurosurg Psychiatry. 2024 Jan 11;95(2):103-113. doi: 10.1136/jnnp-2023-332132. J Neurol Neurosurg Psychiatry. 2024. PMID: 38041679 Free PMC article.
84 results