Al-Beshri A - Search Results

Year	Number of Results
2015	1
2018	3
2019	1
2020	5
2021	2
2022	1
2023	2
2024	9
2025	1

1

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

2

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

3

Overhanging-Dissecting Blebs: Immunohistochemical Characterization.

Al-Beshri AS, Edward DP, Haiti KA, Craven ER. Al-Beshri AS, et al. J Glaucoma. 2018 May;27(5):450-454. doi: 10.1097/IJG.0000000000000940. J Glaucoma. 2018. PMID: 29595557

4

Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.

Borja NA, Tinker RJ, Bivona SA, Smith CA, Locker TK, Fernandes S; Undiagnosed Diseases Network; Phillips JA 3rd, Stoler J, Taylor H, Zuchner S, Tekin M. Borja NA, et al. Am J Med Genet A. 2025 Feb;197(2):e63904. doi: 10.1002/ajmg.a.63904. Epub 2024 Oct 14. Am J Med Genet A. 2025. PMID: 39400494

5

DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphism.

Chen Y, Karaca E, Robin NH, Goodloe D, Al-Beshri A, Dean SJ, Hurst ACE, Carroll AJ, Mikhail FM. Chen Y, et al. Among authors: al beshri a. Genet Med. 2024 Jan;26(1):101010. doi: 10.1016/j.gim.2023.101010. Epub 2023 Oct 16. Genet Med. 2024. PMID: 37860969 Free article.

6

The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones.

Mulvihill JJ, Findley L, Ni W, Sinsheimer JS, Cole FS, Esteves C, Bernstein JA, Newman JH, Wheeler MT, Mokry JR; Undiagnosed Diseases Network. Mulvihill JJ, et al. Genet Med. 2024 Oct;26(10):101203. doi: 10.1016/j.gim.2024.101203. Epub 2024 Jul 2. Genet Med. 2024. PMID: 38967101

7

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

8

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.

Lenaerts L, Reynhout S, Verbinnen I, Laumonnier F, Toutain A, Bonnet-Brilhault F, Hoorne Y, Joss S, Chassevent AK, Smith-Hicks C, Loeys B, Joset P, Steindl K, Rauch A, Mehta SG, Chung WK, Devriendt K, Holder SE, Jewett T, Baldwin LM, Wilson WG, Towner S, Srivastava S, Johnson HF, Daumer-Haas C, Baethmann M, Ruiz A, Gabau E, Jain V, Varghese V, Al-Beshri A, Fulton S, Wechsberg O, Orenstein N, Prescott K, Childs AM, Faivre L, Moutton S, Sullivan JA, Shashi V, Koudijs SM, Heijligers M, Kivuva E, McTague A, Male A, van Ierland Y, Plecko B, Maystadt I, Hamid R, Hannig VL, Houge G, Janssens V. Lenaerts L, et al. Among authors: al beshri a. Genet Med. 2021 Feb;23(2):352-362. doi: 10.1038/s41436-020-00981-2. Epub 2020 Oct 27. Genet Med. 2021. PMID: 33106617 Free PMC article.

9

Fragile Bones Secondary to SMURF1 Gene Duplication.

Al-Rawi R, Al-Beshri A, Mikhail FM, McCormick K. Al-Rawi R, et al. Among authors: al beshri a. Calcif Tissue Int. 2020 May;106(5):567-573. doi: 10.1007/s00223-020-00668-5. Epub 2020 Feb 10. Calcif Tissue Int. 2020. PMID: 32040594

10

Haptic Amputation Under Endoscopic Guidance in Uveitis-Glaucoma-Hyphema Syndrome: A Case Report.

Alshehri M, Al Beshri A, Bamefleh D. Alshehri M, et al. Among authors: al beshri a. Cureus. 2023 Mar 17;15(3):e36303. doi: 10.7759/cureus.36303. eCollection 2023 Mar. Cureus. 2023. PMID: 37073188 Free PMC article.

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