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

Year Number of Results
1972 1
1974 1
1975 2
1976 2
1977 3
1985 1
1986 1
1987 3
1988 2
1989 2
1991 2
1992 1
1993 2
1994 2
1996 2
1997 2
1998 1
2000 1
2001 2
2002 3
2003 2
2004 6
2005 7
2006 5
2007 12
2008 11
2009 14
2010 8
2011 11
2012 8
2013 20
2014 23
2015 23
2016 25
2017 24
2018 31
2019 30
2020 39
2021 49
2022 80
2023 77
2024 77
2025 55

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611 results

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Page 1
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
Palles C, West HD, Chew E, Galavotti S, Flensburg C, Grolleman JE, Jansen EAM, Curley H, Chegwidden L, Arbe-Barnes EH, Lander N, Truscott R, Pagan J, Bajel A, Sherwood K, Martin L, Thomas H, Georgiou D, Fostira F, Goldberg Y, Adams DJ, van der Biezen SAM, Christie M, Clendenning M, Thomas LE, Deltas C, Dimovski AJ, Dymerska D, Lubinski J, Mahmood K, van der Post RS, Sanders M, Weitz J, Taylor JC, Turnbull C, Vreede L, van Wezel T, Whalley C, Arnedo-Pac C, Caravagna G, Cross W, Chubb D, Frangou A, Gruber AJ, Kinnersley B, Noyvert B, Church D, Graham T, Houlston R, Lopez-Bigas N, Sottoriva A, Wedge D; Genomics England Research Consortium; CORGI Consortium; WGS500 Consortium; Jenkins MA, Kuiper RP, Roberts AW, Cheadle JP, Ligtenberg MJL, Hoogerbrugge N, Koelzer VH, Rivas AD, Winship IM, Ponte CR, Buchanan DD, Power DG, Green A, Tomlinson IPM, Sampson JR, Majewski IJ, de Voer RM. Palles C, et al. Among authors: mahmood k. Am J Hum Genet. 2022 May 5;109(5):953-960. doi: 10.1016/j.ajhg.2022.03.018. Epub 2022 Apr 22. Am J Hum Genet. 2022. PMID: 35460607 Free PMC article.
Navigational Bronchoscopy or Transthoracic Needle Biopsy for Lung Nodules.
Lentz RJ, Frederick-Dyer K, Planz VB, Koyama T, Aboudara MC, Avasarala SK, Casey JD, Cheng GZ, D'Haese PF, Duke JD, Grogan EL, Hoopman TC, Johnson J, Katsis JM, Kurman JS, Low SW, Mahmood K, Rickman OB, Roller L, Salmon C, Shojaee S, Swanner B, Wahidi MM, Walston C, Silvestri GA, Yarmus L, Rahman NM, Maldonado F; Interventional Pulmonary Outcomes Group. Lentz RJ, et al. Among authors: mahmood k. N Engl J Med. 2025 Jun 5;392(21):2100-2112. doi: 10.1056/NEJMoa2414059. Epub 2025 May 18. N Engl J Med. 2025. PMID: 40387025 Clinical Trial.
Refractory Sarcoidosis.
Mahmood K, Butt NI, Ashfaq F, Younus R. Mahmood K, et al. J Ayub Med Coll Abbottabad. 2023 Jul-Sep;35(3):479-481. doi: 10.55519/JAMC-03-10915. J Ayub Med Coll Abbottabad. 2023. PMID: 38404097 Free article.
Baricitinib in juvenile idiopathic arthritis: an international, phase 3, randomised, double-blind, placebo-controlled, withdrawal, efficacy, and safety trial.
Ramanan AV, Quartier P, Okamoto N, Foeldvari I, Spindler A, Fingerhutová Š, Antón J, Wang Z, Meszaros G, Araújo J, Liao R, Keller S, Brunner HI, Ruperto N; JUVE-BASIS investigators; Paediatric Rheumatology International Trials Organisation. Ramanan AV, et al. Lancet. 2023 Aug 12;402(10401):555-570. doi: 10.1016/S0140-6736(23)00921-2. Epub 2023 Jul 6. Lancet. 2023. PMID: 37423231 Free article. Clinical Trial.
Lupus Vasculitis.
Butt NI, Ashfaq F, Mahmood K, Aftab S, Anwar A, Saeed M. Butt NI, et al. Among authors: mahmood k. J Ayub Med Coll Abbottabad. 2023 Jul-Sep;35(3):475-478. doi: 10.55519/JAMC-03-10849. J Ayub Med Coll Abbottabad. 2023. PMID: 38404096 Free article.
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Spier I, Yin X, Richardson M, Pineda M, Laner A, Ritter D, Boyle J, Mur P, Hansen TVO, Shi X, Mahmood K, Plazzer JP, Ognedal E, Nordling M, Farrington SM, Yamamoto G, Baert-Desurmont S, Martins A, Borras E, Tops C, Webb E, Beshay V, Genuardi M, Pesaran T, Capellá G, Tavtigian SV, Latchford A, Frayling IM, Plon SE, Greenblatt M, Macrae FA, Aretz S; InSiGHT-ClinGen Hereditary Colon Cancer/Polyposis Variant Curation Expert Panel. Spier I, et al. Among authors: mahmood k. Genet Med. 2024 Feb;26(2):100992. doi: 10.1016/j.gim.2023.100992. Epub 2023 Oct 4. Genet Med. 2024. PMID: 37800450 Free PMC article.
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Yin X, Richardson M, Laner A, Shi X, Ognedal E, Vasta V, Hansen TVO, Pineda M, Ritter D, de Dunnen J, Hassanin E, Lin WL, Borras E, Krahn K, Nordling M, Martins A, Mahmood K, Nadeau E, Beshay V, Tops C, Genuardi M, Pesaran T, Frayling IM, Capellá G, Latchford A, Tavtigian SV, Maj C, Plon SE, Greenblatt MS, Macrae FA, Spier I, Aretz S. Yin X, et al. Among authors: mahmood k. Am J Hum Genet. 2024 Nov 7;111(11):2427-2443. doi: 10.1016/j.ajhg.2024.09.002. Epub 2024 Oct 1. Am J Hum Genet. 2024. PMID: 39357517 Free PMC article.
611 results