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

Year Number of Results
2004 1
2005 3
2006 4
2007 7
2008 5
2009 9
2010 4
2011 6
2012 5
2013 11
2014 12
2015 13
2016 16
2017 13
2018 19
2019 17
2020 21
2021 27
2022 53
2023 47
2024 49
2025 34
2026 13

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352 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.
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.
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.
Heterotaxy Syndrome.
Mahmood K, Memon MA, Naeem SA. Mahmood K, et al. J Coll Physicians Surg Pak. 2018 Mar;28(3):252-253. doi: 10.29271/jcpsp.2018.03.252. J Coll Physicians Surg Pak. 2018. PMID: 29544591 No abstract available.
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.
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.
Masquerade ectasia.
Dhillon VK, Elalfy MS, Albert R, Shah PA, Mahmood K, Dua HS. Dhillon VK, et al. Among authors: mahmood k. Br J Ophthalmol. 2014 Nov;98(11):1601-2. doi: 10.1136/bjophthalmol-2014-305251. Epub 2014 Sep 2. Br J Ophthalmol. 2014. PMID: 25185251 No abstract available.
Craniopharyngioma: A lower-middle-income-country epidemiology.
Khalid MU, Shah MM, Bajwa MH, Mirza FA, Laghari AA, Raghib MF, Anis SB, Akhunzada NZ; Pakistan Brain Tumour Consortium; Siddiqi S, Enam SA; Pakistan Brain Tumour Consortium Group Names. Khalid MU, et al. J Pak Med Assoc. 2022 Nov;72(Suppl 4)(11):S61-S67. doi: 10.47391/JPMA.11-S4-AKUB10. J Pak Med Assoc. 2022. PMID: 36591630 Free article.
Schwannoma: A surgical epidemiology.
Khalid MU, Shah MM, Bajwa MH, Nathani KR, Laghari AA, Raghib MF, Anis SB, Akhunzada NZ; Pakistan Brain Tumour Consortium; Siddiqi S, Enam SA; Pakistan Brain Tumour Consortium Group Names. Khalid MU, et al. J Pak Med Assoc. 2022 Nov;72(Suppl 4)(11):S40-S45. doi: 10.47391/JPMA.11-S4-AKUB06. J Pak Med Assoc. 2022. PMID: 36591626 Free article.
352 results