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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 11
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87 results
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Page 1
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
Balasubramanian M, Willoughby J, Fry AE, Weber A, Firth HV, Deshpande C, Berg JN, Chandler K, Metcalfe KA, Lam W, Pilz DT, Tomkins S. Balasubramanian M, et al. Among authors: metcalfe ka. J Med Genet. 2017 Aug;54(8):537-543. doi: 10.1136/jmedgenet-2016-104360. Epub 2017 Jan 18. J Med Genet. 2017. PMID: 28100473 Free article. Review.
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.
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
Fry AE, Marra C, Derrick AV, Pickrell WO, Higgins AT, Te Water Naude J, McClatchey MA, Davies SJ, Metcalfe KA, Tan HJ, Mohanraj R, Avula S, Williams D, Brady LI, Mesterman R, Tarnopolsky MA, Zhang Y, Yang Y, Wang X; Genomics England Research Consortium, Rees MI, Goldfarb M, Chung SK. Fry AE, et al. Among authors: metcalfe ka. Am J Hum Genet. 2021 Jan 7;108(1):176-185. doi: 10.1016/j.ajhg.2020.10.017. Epub 2020 Nov 26. Am J Hum Genet. 2021. PMID: 33245860
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.
Broix L, Jagline H, Ivanova E, Schmucker S, Drouot N, Clayton-Smith J, Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P, Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A; Deciphering Developmental Disorders study, Moïse M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischké P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV, Chelly J. Broix L, et al. Among authors: metcalfe ka. Nat Genet. 2016 Nov;48(11):1349-1358. doi: 10.1038/ng.3676. Epub 2016 Oct 3. Nat Genet. 2016. PMID: 27694961 Free PMC article.
Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation.
Finch AP, Lubinski J, Møller P, Singer CF, Karlan B, Senter L, Rosen B, Maehle L, Ghadirian P, Cybulski C, Huzarski T, Eisen A, Foulkes WD, Kim-Sing C, Ainsworth P, Tung N, Lynch HT, Neuhausen S, Metcalfe KA, Thompson I, Murphy J, Sun P, Narod SA. Finch AP, et al. Among authors: metcalfe ka. J Clin Oncol. 2014 May 20;32(15):1547-53. doi: 10.1200/JCO.2013.53.2820. Epub 2014 Feb 24. J Clin Oncol. 2014. PMID: 24567435 Free PMC article.
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.
Symonds JD, Joss S, Metcalfe KA, Somarathi S, Cruden J, Devlin AM, Donaldson A, DiDonato N, Fitzpatrick D, Kaiser FJ, Lampe AK, Lees MM, McLellan A, Montgomery T, Mundada V, Nairn L, Sarkar A, Schallner J, Pozojevic J, Parenti I, Tan J, Turnpenny P, Whitehouse WP; DDD Study, Zuberi SM. Symonds JD, et al. Among authors: metcalfe ka. Epilepsia. 2017 Apr;58(4):565-575. doi: 10.1111/epi.13669. Epub 2017 Feb 6. Epilepsia. 2017. PMID: 28166369 Free article.
Preferences for breast cancer prevention among women with a BRCA1 or BRCA2 mutation.
Mansfield CA, Metcalfe KA, Snyder C, Lindeman GJ, Posner J, Friedman S; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Lynch HT, Narod SA, Evans DG, Liede A. Mansfield CA, et al. Among authors: metcalfe ka. Hered Cancer Clin Pract. 2020 Sep 29;18:20. doi: 10.1186/s13053-020-00152-z. eCollection 2020. Hered Cancer Clin Pract. 2020. PMID: 33014209 Free PMC article.
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
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