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

Year Number of Results
1864 1
1870 1
1882 1
1885 1
1887 2
1888 2
1889 2
1918 1
1920 1
1935 1
1948 3
1949 1
1984 1
1985 1
1986 1
1987 3
1990 1
1991 1
1992 2
1993 1
1995 1
1997 1
1998 1
1999 2
2000 2
2002 4
2003 2
2004 6
2005 4
2006 6
2007 13
2008 13
2009 10
2010 8
2011 12
2012 7
2013 5
2014 4
2015 6
2016 9
2017 5
2018 9
2019 8
2020 7
2021 13
2022 12
2023 14
2024 4

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195 results

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Page 1
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
Discovery of ABBV-3373, an Anti-TNF Glucocorticoid Receptor Modulator Immunology Antibody Drug Conjugate.
Hobson AD, McPherson MJ, Hayes ME, Goess C, Li X, Zhou J, Wang Z, Yu Y, Yang J, Sun L, Zhang Q, Qu P, Yang S, Hernandez A Jr, Bryant SH, Mathieu SL, Bischoff AK, Fitzgibbons J, Santora LC, Wang L, Wang L, Fettis MM, Li X, Marvin CC, Wang Z, Patel MV, Schmidt DL, Li T, Randolph JT, Henry RF, Graff C, Tian Y, Aguirre AL, Shrestha A. Hobson AD, et al. Among authors: marvin cc. J Med Chem. 2022 Dec 8;65(23):15893-15934. doi: 10.1021/acs.jmedchem.2c01579. Epub 2022 Nov 17. J Med Chem. 2022. PMID: 36394224
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, Gibbs RA, Lifton RP, MacArthur DG, Matise TC, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Mane S, Nickerson DA; Centers for Mendelian Genomics Consortium; Rehm HL, O'Donnell-Luria A. Baxter SM, et al. Genet Med. 2022 Apr;24(4):784-797. doi: 10.1016/j.gim.2021.12.005. Epub 2022 Feb 9. Genet Med. 2022. PMID: 35148959 Free PMC article. Review.
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Pujol-Giménez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG)a, Undiagnosed Diseases Network (UDN); Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB. Pujol-Giménez J, et al. Ann Clin Transl Neurol. 2023 Jun;10(6):1046-1053. doi: 10.1002/acn3.51786. Epub 2023 May 16. Ann Clin Transl Neurol. 2023. PMID: 37194416 Free PMC article.
Discovery of ABBV-154, an anti-TNF Glucocorticoid Receptor Modulator Immunology Antibody-Drug Conjugate (iADC).
Hobson AD, Xu J, Welch DS, Marvin CC, McPherson MJ, Gates B, Liao X, Hollmann M, Gattner MJ, Dzeyk K, Sarvaiya H, Shenoy VM, Fettis MM, Bischoff AK, Wang L, Santora LC, Wang L, Fitzgibbons J, Salomon P, Hernandez A Jr, Jia Y, Goess CA, Mathieu SL, Bryant SH, Larsen ME, Cui B, Tian Y. Hobson AD, et al. Among authors: marvin cc. J Med Chem. 2023 Sep 14;66(17):12544-12558. doi: 10.1021/acs.jmedchem.3c01174. Epub 2023 Sep 1. J Med Chem. 2023. PMID: 37656698
Response to Hall et al.
Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM, Marvin CT, Aylsworth AS, Saadeh-Haddad R, Schatz UA, Inzana F, Ben-Omran T, Almusafri F, Al-Mulla M, Buckingham KJ, Harel T, Mor-Shaked H, Radhakrishnan P, Girisha KM, Nayak SS, Shukla A, Dieterich K, Faure J, Rendu J, Capri Y, Latypova X, Nickerson DA, Warshaw D, Janssen PM; University of Washington Center for Mendelian Genomics; Amacher SL, Bamshad MJ. Chong JX, et al. Among authors: marvin ct. Am J Hum Genet. 2020 Dec 3;107(6):1188-1189. doi: 10.1016/j.ajhg.2020.11.006. Am J Hum Genet. 2020. PMID: 33275912 Free PMC article. No abstract available.
Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome.
Blue EE, White JJ, Dush MK, Gordon WW, Wyatt BH, White P, Marvin CT, Helle E, Ojala T, Priest JR, Jenkins MM, Almli LM, Reefhuis J, Pangilinan F, Brody LC, McBride KL, Garg V, Shaw GM, Romitti PA, Nembhard WN, Browne ML, Werler MM, Kay DM; National Birth Defects Prevention Study; University of Washington Center for Mendelian Genomics; Mital S, Chong JX, Nascone-Yoder NM, Bamshad MJ. Blue EE, et al. Among authors: marvin ct. HGG Adv. 2023 Aug 12;4(4):100232. doi: 10.1016/j.xhgg.2023.100232. eCollection 2023 Oct 12. HGG Adv. 2023. PMID: 37663545 Free PMC article.
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX, Childers MC, Marvin CT, Marcello AJ, Gonorazky H, Hazrati LN, Dowling JJ, Al Amrani F, Alanay Y, Nieto Y, Gabriel MÁM, Aylsworth AS, Buckingham KJ, Shively KM, Sommers O, Anderson K; University of Washington Center for Mendelian Genomics; University of Washington Center for Rare Disease Research; Regnier M, Bamshad MJ. Chong JX, et al. Among authors: marvin ct. HGG Adv. 2023 Jun 15;4(3):100213. doi: 10.1016/j.xhgg.2023.100213. eCollection 2023 Jul 13. HGG Adv. 2023. PMID: 37457373 Free PMC article.
The Robinson Anemometer.
Marvin CF. Marvin CF. Science. 1889 Apr 12;13(323):289. doi: 10.1126/science.ns-13.323.289. Science. 1889. PMID: 17801072 No abstract available.
195 results