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

Year Number of Results
1993 1
1995 1
1996 1
1997 1
1998 1
2000 1
2001 2
2002 3
2003 1
2004 5
2005 5
2007 3
2008 6
2009 4
2010 2
2011 5
2012 3
2013 8
2014 6
2015 6
2016 3
2017 5
2018 6
2019 3
2020 7
2021 12
2022 7
2023 4
2024 1

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95 results

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Page 1
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J; SGP Consortium; Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP. Logan CV, et al. Among authors: metcalfe ka. Am J Hum Genet. 2018 Dec 6;103(6):1038-1044. doi: 10.1016/j.ajhg.2018.10.024. Epub 2018 Nov 29. Am J Hum Genet. 2018. PMID: 30503519 Free PMC article.
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Isidor B, Ebstein F, Hurst A, Vincent M, Bader I, Rudy NL, Cogne B, Mayr J, Brehm A, Bupp C, Warren K, Bacino CA, Gerard A, Ranells JD, Metcalfe KA, van Bever Y, Jiang YH, Mendelssohn BA, Cope H, Rosenfeld JA, Blackburn PR, Goodenberger ML, Kearney HM, Kennedy J, Scurr I, Szczaluba K, Ploski R, de Saint Martin A, Alembik Y, Piton A, Bruel AL, Thauvin-Robinet C, Strong A, Diderich KEM, Bourgeois D, Dahan K, Vignard V, Bonneau D, Colin E, Barth M, Camby C, Baujat G, Briceño I, Gómez A, Deb W, Conrad S, Besnard T, Bézieau S, Krüger E, Küry S, Stankiewicz P. Isidor B, et al. Among authors: metcalfe ka. Genet Med. 2022 Jan;24(1):179-191. doi: 10.1016/j.gim.2021.09.005. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906456 Free article.
Theory-based behavior change intervention to increase uptake of risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 pathogenic variant: The PREVENT randomized controlled trial.
Metcalfe KA, Pal T, Narod SA, Armel S, Shickh S, Buckley K, Walters ST, Brennenstuhl S, Kinney AY. Metcalfe KA, et al. Cancer Med. 2023 Sep;12(17):18246-18257. doi: 10.1002/cam4.6417. Epub 2023 Aug 21. Cancer Med. 2023. PMID: 37602539 Free PMC article. Clinical Trial.
Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome.
Myers KA, White SM, Mohammed S, Metcalfe KA, Fry AE, Wraige E, Vasudevan PC, Balasubramanian M, Scheffer IE. Myers KA, et al. Among authors: metcalfe ka. Epilepsy Res. 2018 Feb;140:166-170. doi: 10.1016/j.eplepsyres.2018.01.014. Epub 2018 Feb 3. Epilepsy Res. 2018. PMID: 29367179
95 results