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Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
Wortmann SB, Meunier B, Mestek-Boukhibar L, van den Broek F, Maldonado EM, Clement E, Weghuber D, Spenger J, Jaros Z, Taha F, Yue WW, Heales SJ, Davison JE, Mayr JA, Rahman S. Wortmann SB, et al. Among authors: yue ww. Am J Hum Genet. 2020 Feb 6;106(2):256-263. doi: 10.1016/j.ajhg.2020.01.005. Epub 2020 Jan 30. Am J Hum Genet. 2020. PMID: 32004446 Free PMC article.
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.
Banka S, de Goede C, Yue WW, Morris AA, von Bremen B, Chandler KE, Feichtinger RG, Hart C, Khan N, Lunzer V, Mataković L, Marquardt T, Makowski C, Prokisch H, Debus O, Nosaka K, Sonwalkar H, Zimmermann FA, Sperl W, Mayr JA. Banka S, et al. Among authors: yue ww. Mol Genet Metab. 2014 Dec;113(4):301-6. doi: 10.1016/j.ymgme.2014.09.010. Epub 2014 Oct 5. Mol Genet Metab. 2014. PMID: 25458521
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Hochberg I, Demain LAM, Richer J, Thompson K, Urquhart JE, Rea A, Pagarkar W, Rodríguez-Palmero A, Schlüter A, Verdura E, Pujol A, Quijada-Fraile P, Amberger A, Deutschmann AJ, Demetz S, Gillespie M, Belyantseva IA, McMillan HJ, Barzik M, Beaman GM, Motha R, Ng KY, O'Sullivan J, Williams SG, Bhaskar SS, Lawrence IR, Jenkinson EM, Zambonin JL, Blumenfeld Z, Yalonetsky S, Oerum S, Rossmanith W; Genomics England Research Consortium; Yue WW, Zschocke J, Munro KJ, Battersby BJ, Friedman TB, Taylor RW, O'Keefe RT, Newman WG. Hochberg I, et al. Among authors: yue ww. Am J Hum Genet. 2021 Nov 4;108(11):2195-2204. doi: 10.1016/j.ajhg.2021.10.002. Epub 2021 Oct 28. Am J Hum Genet. 2021. PMID: 34715011 Free PMC article.
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.
Reijnders MRF, Ansor NM, Kousi M, Yue WW, Tan PL, Clarkson K, Clayton-Smith J, Corning K, Jones JR, Lam WWK, Mancini GMS, Marcelis C, Mohammed S, Pfundt R, Roifman M, Cohn R, Chitayat D; Deciphering Developmental Disorders Study; Millard TH, Katsanis N, Brunner HG, Banka S. Reijnders MRF, et al. Among authors: yue ww. Am J Hum Genet. 2017 Sep 7;101(3):466-477. doi: 10.1016/j.ajhg.2017.08.007. Am J Hum Genet. 2017. PMID: 28886345 Free PMC article.
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.
Keshavan N, Abdenur J, Anderson G, Assouline Z, Barcia G, Bouhikbar L, Chakrapani A, Cleary M, Cohen MC, Feillet F, Fratter C, Hauser N, Jacques T, Lam A, McCullagh H, Phadke R, Rötig A, Sharrard M, Simon M, Smith C, Sommerville EW, Taylor RW, Yue WW, Rahman S. Keshavan N, et al. Among authors: yue ww. Genet Med. 2020 Jan;22(1):199-209. doi: 10.1038/s41436-019-0613-z. Epub 2019 Aug 29. Genet Med. 2020. PMID: 31462754 Free article.
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Reid ES, Papandreou A, Drury S, Boustred C, Yue WW, Wedatilake Y, Beesley C, Jacques TS, Anderson G, Abulhoul L, Broomfield A, Cleary M, Grunewald S, Varadkar SM, Lench N, Rahman S, Gissen P, Clayton PT, Mills PB. Reid ES, et al. Among authors: yue ww. Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221. Brain. 2016. PMID: 27604308 Free PMC article.
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.
Neuray C, Maroofian R, Scala M, Sultan T, Pai GS, Mojarrad M, Khashab HE, deHoll L, Yue W, Alsaif HS, Zanetti MN, Bello O, Person R, Eslahi A, Khazaei Z, Feizabadi MH, Efthymiou S; SYNaPS Study Group; El-Bassyouni HT, Soliman DR, Tekes S, Ozer L, Baltaci V, Khan S, Beetz C, Amr KS, Salpietro V, Jamshidi Y, Alkuraya FS, Houlden H. Neuray C, et al. Brain. 2020 Aug 1;143(8):2388-2397. doi: 10.1093/brain/awaa178. Brain. 2020. PMID: 32705143 Free PMC article.
151 results