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Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene.
Smith A, Bulman DE, Goldsmith C, Bareke E; FORGE Canada Consortium; Majewski J, Boycott KM, Nikkel SM. Smith A, et al. Among authors: bareke e. Eur J Hum Genet. 2015 Jul;23(7):990-2. doi: 10.1038/ejhg.2014.236. Epub 2014 Nov 5. Eur J Hum Genet. 2015. PMID: 25370039 Free PMC article.
H3.1 K36M mutation in a congenital-onset soft tissue neoplasm.
Kernohan KD, Grynspan D, Ramphal R, Bareke E, Wang YC, Nizalik E; Care4Rare Canada Consortium; Ragoussis J, Jabado N, Boycott KM, Majewski J, Sawyer SL. Kernohan KD, et al. Among authors: bareke e. Pediatr Blood Cancer. 2017 Dec;64(12). doi: 10.1002/pbc.26633. Epub 2017 May 16. Pediatr Blood Cancer. 2017. PMID: 28509377
POLR3A variants in hereditary spastic paraplegia and ataxia.
Gauquelin L, Tétreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupré N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, Gan-Or Z, Bernard G. Gauquelin L, et al. Among authors: bareke e. Brain. 2018 Jan 1;141(1):e1. doi: 10.1093/brain/awx290. Brain. 2018. PMID: 29228109 Free PMC article. No abstract available.
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Gomes CC, Gayden T, Bajic A, Harraz OF, Pratt J, Nikbakht H, Bareke E, Diniz MG, Castro WH, St-Onge P, Sinnett D, Han H, Rivera B, Mikael LG, De Jay N, Kleinman CL, Valera ET, Bassenden AV, Berghuis AM, Majewski J, Nelson MT, Gomez RS, Jabado N. Gomes CC, et al. Among authors: bareke e. Nat Commun. 2018 Nov 1;9(1):4572. doi: 10.1038/s41467-018-06690-4. Nat Commun. 2018. PMID: 30385747 Free PMC article.
Recessive mutation in CD2AP causes focal segmental glomerulosclerosis in humans and mice.
Takano T, Bareke E, Takeda N, Aoudjit L, Baldwin C, Pisano P, Matsuda J, El Andalousi J, Muhtadie L, Bernard C, Majewski J, Miyazaki T, Yamamura KI, Gupta IR. Takano T, et al. Among authors: bareke e. Kidney Int. 2019 Jan;95(1):57-61. doi: 10.1016/j.kint.2018.08.014. Epub 2018 Oct 26. Kidney Int. 2019. PMID: 30612599 Free article.
The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape.
Weinberg DN, Papillon-Cavanagh S, Chen H, Yue Y, Chen X, Rajagopalan KN, Horth C, McGuire JT, Xu X, Nikbakht H, Lemiesz AE, Marchione DM, Marunde MR, Meiners MJ, Cheek MA, Keogh MC, Bareke E, Djedid A, Harutyunyan AS, Jabado N, Garcia BA, Li H, Allis CD, Majewski J, Lu C. Weinberg DN, et al. Among authors: bareke e. Nature. 2019 Sep;573(7773):281-286. doi: 10.1038/s41586-019-1534-3. Epub 2019 Sep 4. Nature. 2019. PMID: 31485078 Free PMC article.
49 results