Bhoj E - Search Results

1

Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum.

Murali C, Li D, Grand K, Hakonarson H, Bhoj E. Murali C, et al. Among authors: bhoj e. Am J Med Genet A. 2019 Apr;179(4):655-658. doi: 10.1002/ajmg.a.61060. Epub 2019 Feb 4. Am J Med Genet A. 2019. PMID: 30719842 Free PMC article.

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

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

4

Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses.

Zarate YA, Bosanko KA, Bhoj E, Ganetzky R, Starr LJ, Zackai EH, Schaefer GB. Zarate YA, et al. Among authors: bhoj e. Am J Med Genet A. 2015 Sep;167A(9):2168-75. doi: 10.1002/ajmg.a.37126. Epub 2015 Apr 25. Am J Med Genet A. 2015. PMID: 25914130 Free PMC article.

5

"CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014.

Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge G, Monica MD, Mari F, Andreucci E, Romano S, Cocchi G, Savasta S, Malbora B, Marangi G, Garavelli L, Zollino M, Zackai EH. Wenger TL, et al. Among authors: bhoj e. Am J Med Genet A. 2015 Jul;167(7):1682-3. doi: 10.1002/ajmg.a.36860. Epub 2015 May 5. Am J Med Genet A. 2015. PMID: 26097173 No abstract available.

6

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

7

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.

8

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

9

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

Tooley M, Lynch D, Bernier F, Parboosingh J, Bhoj E, Zackai E, Calder A, Itasaki N, Wakeling E, Scott R, Lees M, Clayton-Smith J, Blyth M, Morton J, Shears D, Kini U, Homfray T, Clarke A, Barnicoat A, Wallis C, Hewitson R, Offiah A, Saunders M, Langton-Hewer S, Hilliard T, Davis P, Smithson S. Tooley M, et al. Among authors: bhoj e. Am J Med Genet A. 2016 May;170A(5):1115-26. doi: 10.1002/ajmg.a.37587. Epub 2016 Mar 12. Am J Med Genet A. 2016. PMID: 26971886

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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