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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2016 | 1 |
2017 | 1 |
2018 | 1 |
2020 | 2 |
2021 | 1 |
2023 | 1 |
2024 | 0 |
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Page 1
The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase.
Proc Natl Acad Sci U S A. 2023 May 23;120(21):e2302584120. doi: 10.1073/pnas.2302584120. Epub 2023 May 15.
Proc Natl Acad Sci U S A. 2023.
PMID: 37186866
Free PMC article.
Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality.
Elpidorou M, Best S, Poulter JA, Hartill V, Hobson E, Sheridan E, Johnson CA.
Elpidorou M, et al.
J Med Genet. 2021 May;58(5):334-341. doi: 10.1136/jmedgenet-2020-106873. Epub 2020 Jun 22.
J Med Genet. 2021.
PMID: 32571899
Free PMC article.
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A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Cuvertino S, Hartill V, Colyer A, Garner T, Nair N, Al-Gazali L, Canham N, Faundes V, Flinter F, Hertecant J, Holder-Espinasse M, Jackson B, Lynch SA, Nadat F, Narasimhan VM, Peckham M, Sellers R, Seri M, Montanari F, Southgate L, Squeo GM, Trembath R, van Heel D, Venuto S, Weisberg D, Stals K, Ellard S; Genomics England Research Consortium; Barton A, Kimber SJ, Sheridan E, Merla G, Stevens A, Johnson CA, Banka S.
Cuvertino S, et al.
Genet Med. 2020 May;22(5):867-877. doi: 10.1038/s41436-019-0743-3. Epub 2020 Jan 17.
Genet Med. 2020.
PMID: 31949313
Free PMC article.
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DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.
Hartill VL, van de Hoek G, Patel MP, Little R, Watson CM, Berry IR, Shoemark A, Abdelmottaleb D, Parkes E, Bacchelli C, Szymanska K, Knoers NV, Scambler PJ, Ueffing M, Boldt K, Yates R, Winyard PJ, Adler B, Moya E, Hattingh L, Shenoy A, Hogg C, Sheridan E, Roepman R, Norris D, Mitchison HM, Giles RH, Johnson CA.
Hartill VL, et al.
Hum Mol Genet. 2018 Feb 1;27(3):529-545. doi: 10.1093/hmg/ddx422.
Hum Mol Genet. 2018.
PMID: 29228333
Free PMC article.
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Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.
Hartill V, Szymanska K, Sharif SM, Wheway G, Johnson CA.
Hartill V, et al.
Front Pediatr. 2017 Nov 20;5:244. doi: 10.3389/fped.2017.00244. eCollection 2017.
Front Pediatr. 2017.
PMID: 29209597
Free PMC article.
Review.
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Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.
Kennedy H, Haack TB, Hartill V, Mataković L, Baumgartner ER, Potter H, Mackay R, Alston CL, O'Sullivan S, McFarland R, Connolly G, Gannon C, King R, Mead S, Crozier I, Chan W, Florkowski CM, Sage M, Höfken T, Alhaddad B, Kremer LS, Kopajtich R, Feichtinger RG, Sperl W, Rodenburg RJ, Minet JC, Dobbie A, Strom TM, Meitinger T, George PM, Johnson CA, Taylor RW, Prokisch H, Doudney K, Mayr JA.
Kennedy H, et al.
Am J Hum Genet. 2016 Sep 1;99(3):674-682. doi: 10.1016/j.ajhg.2016.06.027. Epub 2016 Aug 11.
Am J Hum Genet. 2016.
PMID: 27523597
Free PMC article.
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