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Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation.
J Med Genet. 2022 Apr;59(4):366-369. doi: 10.1136/jmedgenet-2020-107528. Epub 2021 Feb 5.
J Med Genet. 2022.
PMID: 33547136
Free PMC article.
No abstract available.
Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation.
McClatchey MA, du Toit ZD, Vaughan R, Whatley SD, Martins S, Hegde S, Naude JTW, Thomas DH, Griffiths DF, Genomics England Research Consortium, Clarke AJ, Fry AE.
McClatchey MA, et al.
Eur J Med Genet. 2020 Sep;63(9):103972. doi: 10.1016/j.ejmg.2020.103972. Epub 2020 Jun 10.
Eur J Med Genet. 2020.
PMID: 32531461
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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: mcclatchey ma.
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
Free PMC article.
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Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem Involvement.
Cerbone M, Clement E, McClatchey M, Dobbin J, Gilbert C, Keane M, Boukhibar L, Williams H, Gagunashvili A, Dattani MT, Hurst J, Shah P.
Cerbone M, et al.
Horm Res Paediatr. 2019;92(1):64-70. doi: 10.1159/000496545. Epub 2019 Mar 15.
Horm Res Paediatr. 2019.
PMID: 30879005
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