Bhoj EJ - Search Results

1

Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome.

Matalon DR, Bhoj EJ, Li D, McDougall C, Schindewolf E, Khalek N, Wilkens A, McManus M, Deardorff MA, Zackai EH. Matalon DR, et al. Among authors: bhoj ej. Am J Med Genet A. 2023 Apr;191(4):977-982. doi: 10.1002/ajmg.a.63105. Epub 2023 Jan 6. Am J Med Genet A. 2023. PMID: 36610046

2

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. Bhoj EJ, et al. JIMD Rep. 2015;19:59-66. doi: 10.1007/8904_2014_364. Epub 2015 Feb 15. JIMD Rep. 2015. PMID: 25681081 Free PMC article.

3

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. Bhoj VG, et al. Among authors: bhoj ej. Proc Natl Acad Sci U S A. 2008 Sep 16;105(37):14046-51. doi: 10.1073/pnas.0804717105. Epub 2008 Sep 9. Proc Natl Acad Sci U S A. 2008. PMID: 18780793 Free PMC article.

4

Pallor and lethargy in a 19-month-old boy.

Bhoj EJ, Bhoj V, Henretig FM. Bhoj EJ, et al. Among authors: bhoj v. Pediatr Emerg Care. 2014 Jun;30(6):444-6. doi: 10.1097/PEC.0000000000000174. Pediatr Emerg Care. 2014. PMID: 24892689 No abstract available.

5

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. Bhoj EJ, et al. Eur J Hum Genet. 2011 May;19(5):540-6. doi: 10.1038/ejhg.2010.245. Epub 2011 Feb 2. Eur J Hum Genet. 2011. PMID: 21368915 Free PMC article.

6

Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration.

Khazaei S, Chen CCL, Andrade AF, Kabir N, Azarafshar P, Morcos SM, França JA, Lopes M, Lund PJ, Danieau G, Worme S, Adnani L, Nzirorera N, Chen X, Yogarajah G, Russo C, Zeinieh M, Wong CJ, Bryant L, Hébert S, Tong B, Sihota TS, Faury D, Puligandla E, Jawhar W, Sandy V, Cowan M, Nakada EM, Jerome-Majewska LA, Ellezam B, Gomes CC, Denecke J, Lessel D, McDonald MT, Pizoli CE, Taylor K, Cocanougher BT, Bhoj EJ, Gingras AC, Garcia BA, Lu C, Campos EI, Kleinman CL, Garzia L, Jabado N. Khazaei S, et al. Among authors: bhoj ej. Cell. 2023 Mar 16;186(6):1162-1178.e20. doi: 10.1016/j.cell.2023.02.023. Cell. 2023. PMID: 36931244 Free PMC article.

7

NeuroTri2-VISDOT: An open-access tool to harness the power of second trimester human single cell data to inform models of Mendelian neurodevelopmental disorders.

Clark KJ, Lubin EE, Gonzalez EM, Sangree AK, Layo-Carris DE, Durham EL, Ahrens-Nicklas RC, Nomakuchi TT, Bhoj EJ. Clark KJ, et al. Among authors: bhoj ej. bioRxiv [Preprint]. 2024 Feb 4:2024.02.01.578438. doi: 10.1101/2024.02.01.578438. bioRxiv. 2024. PMID: 38352329 Free PMC article. Preprint.

8

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. Bhoj EJ, et al. Mol Cytogenet. 2009 Feb 13;2:5. doi: 10.1186/1755-8166-2-5. Mol Cytogenet. 2009. PMID: 19216786 Free PMC article.

9

Late-onset partial complex seizures secondary to cortical dysplasia in a patient with maternal vitamin K deficient embryopathy: comments on the article by Toriello et al. [2013] and first report of the natural history.

Bhoj E, Dubbs H, McDonald-McGinn D, Zackai E. Bhoj E, et al. Am J Med Genet A. 2013 Sep;161A(9):2396-8. doi: 10.1002/ajmg.a.36043. Epub 2013 Jul 29. Am J Med Genet A. 2013. PMID: 23897629 No abstract available.

10

Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence.

Bhoj E, Halbach S, McDonald-McGinn D, Tan C, Lande R, Waggoner D, Zackai E. Bhoj E, et al. Am J Med Genet A. 2013 Sep;161A(9):2327-33. doi: 10.1002/ajmg.a.36061. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913759

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