Borja NA - Search Results

1

Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.

Dohrn MF, Bademci G, Rebelo AP, Jeanne M, Borja NA, Beijer D, Danzi MC, Bivona SA, Gueguen P, Zafeer MF; Undiagnosed Diseases Network; Tekin M, Züchner S. Dohrn MF, et al. Among authors: borja na. Ann Clin Transl Neurol. 2024 Apr;11(4):1075-1079. doi: 10.1002/acn3.51963. Epub 2024 Mar 19. Ann Clin Transl Neurol. 2024. PMID: 38504481 Free PMC article.

2

Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.

Borja N, Bivona S, Peart LS, Johnson B, Gonzalez J, Barbouth D, Moore H, Guo S; Undiagnosed Disease Network; Bademci G, Tekin M. Borja N, et al. Mol Genet Genomic Med. 2022 Apr;10(4):e1892. doi: 10.1002/mgg3.1892. Epub 2022 Mar 5. Mol Genet Genomic Med. 2022. PMID: 35247231 Free PMC article.

3

Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.

Borja N, Zafeer MF, Rodriguez JA, Morel Swols D, Thorson W, Bademci G, Tekin M. Borja N, et al. Am J Med Genet A. 2023 Apr;191(4):1044-1049. doi: 10.1002/ajmg.a.63119. Epub 2023 Jan 11. Am J Med Genet A. 2023. PMID: 36628575 Review.

4

Atypical ATMs: Broadening the phenotypic spectrum of ATM-associated hereditary cancer.

Borja NA, Silva-Smith R, Huang M, Parekh DJ, Sussman D, Tekin M. Borja NA, et al. Front Oncol. 2023 Feb 14;13:1068110. doi: 10.3389/fonc.2023.1068110. eCollection 2023. Front Oncol. 2023. PMID: 36865800 Free PMC article.

5

H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.

Borja N, Borjas-Mendoza P, Bivona S, Peart L, Gonzalez J, Johnson BK, Guo S, Yusupov R; Undiagnosed Diseases Network; Bademci G, Tekin M. Borja N, et al. Am J Med Genet A. 2023 Jul;191(7):1911-1916. doi: 10.1002/ajmg.a.63193. Epub 2023 Mar 29. Am J Med Genet A. 2023. PMID: 36987712 Free PMC article.

6

Triple Primary Cancers: An Analysis of Genetic and Environmental Factors.

Borja NA, Silva-Smith R, Calfa C, Sussman DA, Tekin M. Borja NA, et al. Cancer Prev Res (Phila). 2024 May 2;17(5):209-215. doi: 10.1158/1940-6207.CAPR-23-0395. Cancer Prev Res (Phila). 2024. PMID: 38361103

7

Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.

Ezell KM, Tinker RJ, Furuta Y, Gulsevin A, Bastarache L, Hamid R, Cogan JD, Rives L, Neumann S, Corner B, Kozuria M, Phillips JA 3rd; Undiagnosed Diseases Network. Ezell KM, et al. Am J Med Genet A. 2024 Jul;194(7):e63597. doi: 10.1002/ajmg.a.63597. Epub 2024 Mar 21. Am J Med Genet A. 2024. PMID: 38511854

8

Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.

Stellacci E, Carter JN, Pannone L, Stevenson D, Moslehi D, Venanzi S; Undiagnosed Diseases Network; Bernstein JA, Tartaglia M, Martinelli S. Stellacci E, et al. Am J Med Genet A. 2024 Aug;194(8):e63627. doi: 10.1002/ajmg.a.63627. Epub 2024 Apr 12. Am J Med Genet A. 2024. PMID: 38613168

9

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.

Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Cole FS, Rios J, Bellen HJ. Moulton MJ, et al. Genet Med. 2024 Sep;26(9):101174. doi: 10.1016/j.gim.2024.101174. Epub 2024 Jun 3. Genet Med. 2024. PMID: 38847193

10

Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.

McNamee L, Schoch K, Huang A, Lee H, Wang LK, Smith EC, Lark RK, Buckley AF, Jobanputra V, Nelson SF, Shashi V; Undiagnosed Diseases Network. McNamee L, et al. Am J Med Genet A. 2024 Nov;194(11):e63798. doi: 10.1002/ajmg.a.63798. Epub 2024 Jun 24. Am J Med Genet A. 2024. PMID: 38924341

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