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Year Number of Results
2010 1
2013 1
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2016 2
2017 2
2018 5
2019 4
2020 8
2021 15
2022 13
2023 6

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45 results

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Page 1
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Mattison KA, Tossing G, Mulroe F, Simmons C, Butler KM, Schreiber A, Alsadah A, Neilson DE, Naess K, Wedell A, Wredenberg A, Sorlin A, McCann E, Burghel GJ, Menendez B, Hoganson GE, Botto LD, Filloux FM, Aledo-Serrano Á, Gil-Nagel A, Tatton-Brown K, Verbeek NE, van der Zwaag B, Aleck KA, Fazenbaker AC, Balciuniene J, Dubbs HA, Marsh ED, Garber K, Ek J, Duno M, Hoei-Hansen CE, Deardorff MA, Raca G, Quindipan C, van Hirtum-Das M, Breckpot J, Hammer TB, Møller RS, Whitney A, Douglas AGL, Kharbanda M, Brunetti-Pierri N, Morleo M, Nigro V, May HJ, Tao JX, Argilli E, Sherr EH, Dobyns WB; Genomics England Research Consortium; Baines RA, Warwicker J, Parker JA, Banka S, Campeau PM, Escayg A. Mattison KA, et al. Among authors: burghel gj. Brain. 2023 Apr 19;146(4):1357-1372. doi: 10.1093/brain/awac330. Brain. 2023. PMID: 36074901
BRCA1/2 in non-mucinous epithelial ovarian cancer: tumour with or without germline testing?
Morgan RD, Burghel GJ, Flaum N, Bulman M, Smith P, Clamp AR, Hasan J, Mitchell CL, Salih Z, Woodward ER, Lalloo F, Crosbie EJ, Edmondson RJ, Wallace AJ, Jayson GC, Evans DGR. Morgan RD, et al. Among authors: burghel gj. Br J Cancer. 2022 Jul;127(1):163-167. doi: 10.1038/s41416-022-01773-y. Epub 2022 Mar 8. Br J Cancer. 2022. PMID: 35260807 Free PMC article. Review.
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Garrett A, Loveday C, King L, Butler S, Robinson R, Horton C, Yussuf A, Choi S, Torr B, Durkie M, Burghel GJ, Drummond J, Berry I, Wallace A, Callaway A, Eccles D, Tischkowitz M, Tatton-Brown K, Snape K, McVeigh T, Izatt L, Woodward ER, Burnichon N, Gimenez-Roqueplo AP, Mazzarotto F, Whiffin N, Ware J, Hanson H, Pesaran T, LaDuca H, Buffet A, Maher ER, Turnbull C; Cancer Variant Interpretation Group UK (CanVIG-UK). Garrett A, et al. Among authors: burghel gj. Genet Med. 2022 Jan;24(1):41-50. doi: 10.1016/j.gim.2021.08.004. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906457 Free PMC article.
A living biobank of ovarian cancer ex vivo models reveals profound mitotic heterogeneity.
Nelson L, Tighe A, Golder A, Littler S, Bakker B, Moralli D, Murtuza Baker S, Donaldson IJ, Spierings DCJ, Wardenaar R, Neale B, Burghel GJ, Winter-Roach B, Edmondson R, Clamp AR, Jayson GC, Desai S, Green CM, Hayes A, Foijer F, Morgan RD, Taylor SS. Nelson L, et al. Among authors: burghel gj. Nat Commun. 2020 Feb 13;11(1):822. doi: 10.1038/s41467-020-14551-2. Nat Commun. 2020. PMID: 32054838 Free PMC article.
Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers.
Evans DG, Sithambaram S, van Veen EM, Burghel GJ, Schlecht H, Harkness EF, Byers H, Ellingford JM, Gandhi A, Howell SJ, Howell A, Forde C, Lalloo F, Newman WG, Smith MJ, Woodward ER. Evans DG, et al. Among authors: burghel gj. J Med Genet. 2022 Nov 28:jmg-2022-108790. doi: 10.1136/jmg-2022-108790. Online ahead of print. J Med Genet. 2022. PMID: 36442995
Screening by single-molecule molecular inversion probes targeted sequencing panel of candidate genes of infertility in azoospermic infertile Jordanian males.
Batiha O, Burghel GJ, Alkofahi A, Alsharu E, Smith H, Alobaidi B, Al-Smadi M, Awamlah N, Hussein L, Abdelnour A, Sheth H, Veltman J. Batiha O, et al. Among authors: burghel gj. Hum Fertil (Camb). 2022 Dec;25(5):939-946. doi: 10.1080/14647273.2021.1946173. Epub 2021 Jun 30. Hum Fertil (Camb). 2022. PMID: 34190021
45 results