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Page 1
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Ro… See abstract for full author list ➔ Crow YJ, et al. Among authors: bloom m. Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16. Am J Med Genet A. 2015. PMID: 25604658 Free PMC article.
Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome.
Takanohashi A, Prust M, Wang J, Gordish-Dressman H, Bloom M, Rice GI, Schmidt JL, Crow YJ, Lebon P, Kuijpers TW, Nagaraju K, Vanderver A. Takanohashi A, et al. Among authors: bloom m. Neurology. 2013 Mar 12;80(11):997-1002. doi: 10.1212/WNL.0b013e3182872694. Epub 2013 Feb 13. Neurology. 2013. PMID: 23408864 Free PMC article.
Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy.
Pizzino A, Whitehead M, Sabet Rasekh P, Murphy J, Helman G, Bloom M, Evans SH, Murnick JG, Conry J, Taft RJ, Simons C, Vanderver A, Adang LA. Pizzino A, et al. Among authors: bloom m. Am J Med Genet A. 2018 Jun;176(6):1443-1448. doi: 10.1002/ajmg.a.38717. Epub 2018 Apr 25. Am J Med Genet A. 2018. PMID: 29696782 Free PMC article.
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.
Ulrick N, Goldstein A, Simons C, Taft RJ, Helman G, Pizzino A, Bloom M, Vogt J, Pysden K, Diodato D, Martinelli D, Monavari A, Buhas D, van Karnebeek CD, Dorboz I, Boespflug-Tanguy O, Rodriguez D, Tétreault M, Majewski J, Bernard G, Ng YS; Care4Rare Canada Consortium; McFarland R, Vanderver A. Ulrick N, et al. Among authors: bloom m. Pediatr Neurol. 2017 Jan;66:59-62. doi: 10.1016/j.pediatrneurol.2016.09.003. Epub 2016 Sep 13. Pediatr Neurol. 2017. PMID: 27843092
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.
Simons C, Griffin LB, Helman G, Golas G, Pizzino A, Bloom M, Murphy JL, Crawford J, Evans SH, Topper S, Whitehead MT, Schreiber JM, Chapman KA, Tifft C, Lu KB, Gamper H, Shigematsu M, Taft RJ, Antonellis A, Hou YM, Vanderver A. Simons C, et al. Among authors: bloom m. Am J Hum Genet. 2015 Apr 2;96(4):675-81. doi: 10.1016/j.ajhg.2015.02.012. Epub 2015 Mar 26. Am J Hum Genet. 2015. PMID: 25817015 Free PMC article.
Whole exome sequencing in patients with white matter abnormalities.
Vanderver A, Simons C, Helman G, Crawford J, Wolf NI, Bernard G, Pizzino A, Schmidt JL, Takanohashi A, Miller D, Khouzam A, Rajan V, Ramos E, Chowdhury S, Hambuch T, Ru K, Baillie GJ, Grimmond SM, Caldovic L, Devaney J, Bloom M, Evans SH, Murphy JLP, McNeill N, Fogel BL; Leukodystrophy Study Group; Schiffmann R, van der Knaap MS, Taft RJ. Vanderver A, et al. Among authors: bloom m. Ann Neurol. 2016 Jun;79(6):1031-1037. doi: 10.1002/ana.24650. Epub 2016 May 9. Ann Neurol. 2016. PMID: 27159321 Free PMC article.
GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.
Gotoh L, Inoue K, Helman G, Mora S, Maski K, Soul JS, Bloom M, Evans SH, Goto YI, Caldovic L, Hobson GM, Vanderver A. Gotoh L, et al. Among authors: bloom m. Mol Genet Metab. 2014 Mar;111(3):393-398. doi: 10.1016/j.ymgme.2013.12.001. Epub 2013 Dec 16. Mol Genet Metab. 2014. PMID: 24374284 Free PMC article.
Hodgkin lymphoma in an individual with TREX1-mediated Aicardi Goutières syndrome.
Gavazzi F, Fraser JL, Bloom M, Tochen L, Rhee J, Kwan M, Victoria T, Teachey DT, Ho CY, Vanderver A, Linn RL. Gavazzi F, et al. Among authors: bloom m. Pediatr Blood Cancer. 2022 Jan;69(1):e29322. doi: 10.1002/pbc.29322. Epub 2021 Sep 7. Pediatr Blood Cancer. 2022. PMID: 34490982 No abstract available.
853 results