Bio

Berta Almoguera

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Publications

Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.
Bhoj EJ, Li D, Harr MH, Tian L, Wang T, Zhao Y, Qiu H, Kim C, Hoffman JD, Hakonarson H, Zackai EH.
Am J Med Genet A. 2015 Jun 25. doi: 10.1002/ajmg.a.37217. [Epub ahead of print]



Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.
Nesbitt A, Bhoj EJ, McDonald Gibson K, Yu Z, Denenberg E, Sarmady M, Tischler T, Cao K, Dubbs H, Zackai EH, Santani A.
Am J Med Genet A. 2015 Jun 25. doi: 10.1002/ajmg.a.37221. [Epub ahead of print]



Beare-Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeve.
Wenger TL, Bhoj EJ, Wetmore RF, Mennuti MT, Bartlett SP, Mollen TJ, McDonald-McGinn DM, Zackai EH.
Am J Med Genet A. 2015 Apr;167A(4):852-7. doi: 10.1002/ajmg.a.36985. Epub 2015 Feb 23.



Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis.
Bhoj EJ, Li M, Ahrens-Nicklas R, Pyle LC, Wang J, Zhang VW, Clarke C, Wong LJ, Sondheimer N, Ficicioglu C, Yudkoff M.
JIMD Rep. 2015;19:59-66. doi: 10.1007/8904_2014_364. Epub 2015 Feb 15.



Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.
Lynch DC, Revil T, Schwartzentruber J, Bhoj EJ, Innes AM, Lamont RE, Lemire EG, Chodirker BN, Taylor JP, Zackai EH, McLeod DR, Kirk EP, Hoover-Fong J, Fleming L, Savarirayan R; Care4Rare Canada, Majewski J, Jerome-Majewska LA, Parboosingh JS, Bernier FP.
Nat Commun. 2014 Jul 22;5:4483. doi: 10.1038/ncomms5483.



Pallor and lethargy in a 19-month-old boy.
Bhoj EJ, Bhoj V, Henretig FM.
Pediatr Emerg Care. 2014 Jun;30(6):444-6. doi: 10.1097/PEC.0000000000000174. No abstract available.



Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development.
Bhoj EJ, Ramos P, Baker LA, Garg V, Cost N, Nordenskjöld A, Elder FF, Bleyl SB, Bowles NE, Arrington CB, Delhomme B, Vanhoutteghem A, Djian P, Zinn AR.
Eur J Hum Genet. 2011 May;19(5):540-6. doi: 10.1038/ejhg.2010.245. Epub 2011 Feb 2. Erratum in: Eur J Hum Genet. 2012 Feb;20(2):249. Garg, Vidu [added].



MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetes.
Bhoj EJ, Romeo S, Baroni MG, Bartov G, Schultz RA, Zinn AR.
Mol Cytogenet. 2009 Feb 13;2:5. doi: 10.1186/1755-8166-2-5.



MAVS and MyD88 are essential for innate immunity but not cytotoxic T lymphocyte response against respiratory syncytial virus.
Bhoj VG, Sun Q, Bhoj EJ, Somers C, Chen X, Torres JP, Mejias A, Gomez AM, Jafri H, Ramilo O, Chen ZJ.
Proc Natl Acad Sci U S A. 2008 Sep 16;105(37):14046-51. doi: 10.1073/pnas.0804717105. Epub 2008 Sep 9.