Bhoj E - Search Results

1

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.

Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, White SM, Lachlan K, Ahimaz P, Sewda A, Bastarache L, Thomas-Wilson A, Stoler JM, Bramswig NC, Baptista J, Stals K, Demurger F, Cogne B, Isidor B, Bedeschi MF, Peron A, Amiel J, Zackai E, Schacht JP, Iglesias AD, Morton J, Schmetz A; Undiagnosed Diseases Network; Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E. Ganapathi M, et al. Among authors: bhoj e. Eur J Hum Genet. 2023 Oct;31(10):1117-1124. doi: 10.1038/s41431-023-01434-5. Epub 2023 Jul 27. Eur J Hum Genet. 2023. PMID: 37500725

2

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

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

3

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.

4

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.

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. Bhoj VG, et al. 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.

6

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

7

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. Bhoj EJ, et al. Am J Med Genet A. 2015 Nov;167A(11):2497-502. doi: 10.1002/ajmg.a.37217. Epub 2015 Jun 25. Am J Med Genet A. 2015. PMID: 26111080

8

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. Nesbitt A, et al. Among authors: bhoj ej. Am J Med Genet A. 2015 Nov;167A(11):2548-54. doi: 10.1002/ajmg.a.37221. Epub 2015 Jun 25. Am J Med Genet A. 2015. PMID: 26111154 Review.

9

Aortic coarctation and carotid artery aneurysm in a patient with Hardikar syndrome: Cardiovascular implications for affected individuals.

Ryan KM, Ellis AR, Raafat R, Bhoj EJ, Hakonarson H, Li D, Schrier Vergano S. Ryan KM, et al. Am J Med Genet A. 2016 Feb;170A(2):482-486. doi: 10.1002/ajmg.a.37438. Epub 2015 Oct 15. Am J Med Genet A. 2016. PMID: 26471230

10

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.

Bhoj EJ, Li D, Harr M, Edvardson S, Elpeleg O, Chisholm E, Juusola J, Douglas G, Guillen Sacoto MJ, Siquier-Pernet K, Saadi A, Bole-Feysot C, Nitschke P, Narravula A, Walke M, Horner MB, Day-Salvatore DL, Jayakar P, Vergano SA, Tarnopolsky MA, Hegde M, Colleaux L, Crino P, Hakonarson H. Bhoj EJ, et al. Am J Hum Genet. 2016 Apr 7;98(4):782-8. doi: 10.1016/j.ajhg.2016.03.016. Epub 2016 Mar 31. Am J Hum Genet. 2016. PMID: 27040691 Free PMC article.

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