Bhoj EJ - Search Results

1

An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ().

Chitayat D, Shannon P, Uster T, Nezarati MM, Schnur RE, Bhoj EJ. Chitayat D, et al. Among authors: bhoj ej. Am J Med Genet A. 2018 Sep;176(9):2041-2043. doi: 10.1002/ajmg.a.40360. Epub 2018 Aug 2. Am J Med Genet A. 2018. PMID: 30070761 No abstract available.

2

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.

3

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

eMERGE Consortium. Electronic address: agibbs@bcm.edu; eMERGE Consortium. eMERGE Consortium. Electronic address: agibbs@bcm.edu, et al. Am J Hum Genet. 2019 Sep 5;105(3):588-605. doi: 10.1016/j.ajhg.2019.07.018. Epub 2019 Aug 22. Am J Hum Genet. 2019. PMID: 31447099 Free PMC article.

4

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

5

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.

6

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

Fregeau B, Kim BJ, Hernández-García A, Jordan VK, Cho MT, Schnur RE, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, Barañano K, Bosch DGM, de Vries BBA, Lindstrom K, Schroeder A, James P, Kulch P, Lalani SR, van Haelst MM, van Gassen KLI, van Binsbergen E, Barkovich AJ, Scott DA, Sherr EH. Fregeau B, et al. Am J Hum Genet. 2016 May 5;98(5):963-970. doi: 10.1016/j.ajhg.2016.03.002. Epub 2016 Apr 14. Am J Hum Genet. 2016. PMID: 27087320 Free PMC article.

7

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

Zarate YA, Bhoj E, Kaylor J, Li D, Tsurusaki Y, Miyake N, Matsumoto N, Phadke S, Escobar L, Irani A, Hakonarson H, Schrier Vergano SA. Zarate YA, et al. Am J Med Genet A. 2016 Aug;170(8):1967-73. doi: 10.1002/ajmg.a.37722. Epub 2016 Jun 5. Am J Med Genet A. 2016. PMID: 27264197 Free PMC article. Review.

8

Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.

Wenger T, Li D, Harr MH, Tan WH, Pellegrino R, Stark Z, Hakonarson H, Bhoj EJ. Wenger T, et al. Among authors: bhoj ej. Am J Med Genet A. 2018 Jan;176(1):75-81. doi: 10.1002/ajmg.a.38516. Epub 2017 Nov 12. Am J Med Genet A. 2018. PMID: 29130604

9

De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.

Pinz H, Pyle LC, Li D, Izumi K, Skraban C, Tarpinian J, Braddock SR, Telegrafi A, Monaghan KG, Zackai E, Bhoj EJ. Pinz H, et al. Among authors: bhoj ej. Am J Med Genet A. 2018 Apr;176(4):969-972. doi: 10.1002/ajmg.a.38620. Epub 2018 Feb 15. Am J Med Genet A. 2018. PMID: 29446546 Free PMC article.

10

Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.

Blackburn PR, Chacon-Camacho OF, Ortiz-González XR, Reyes M, Lopez-Uriarte GA, Zarei S, Bhoj EJ, Perez-Solorzano S, Vaubel RA, Murphree MI, Nava J, Cortes-Gonzalez V, Parisi JE, Villanueva-Mendoza C, Tirado-Torres IG, Li D, Klee EW, Pichurin PN, Zenteno JC. Blackburn PR, et al. Among authors: bhoj ej. Am J Med Genet A. 2018 Dec;176(12):2710-2719. doi: 10.1002/ajmg.a.40644. Epub 2018 Nov 18. Am J Med Genet A. 2018. PMID: 30450772

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