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Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.
Soens ZT, Branch J, Wu S, Yuan Z, Li Y, Li H, Wang K, Xu M, Rajan L, Motta FL, Simões RT, Lopez-Solache I, Ajlan R, Birch DG, Zhao P, Porto FB, Sallum J, Koenekoop RK, Sui R, Chen R. Soens ZT, et al. Among authors: branch j. Hum Mutat. 2017 Nov;38(11):1521-1533. doi: 10.1002/humu.23294. Epub 2017 Aug 18. Hum Mutat. 2017. PMID: 28714225 Free PMC article.
A Zebra at the Rodeo: Dyspnea, Hematuria, and a Family History of Arthritis.
Cabrera-Pérez JS, Branch J, Reyes A, Michael M, Eldin KW, Silva-Carmona M, Vogel TP. Cabrera-Pérez JS, et al. Among authors: branch j. Arthritis Care Res (Hoboken). 2022 Feb;74(2):165-170. doi: 10.1002/acr.24368. Epub 2022 Jan 5. Arthritis Care Res (Hoboken). 2022. PMID: 32598558 No abstract available.
A Novel STAT3 Mutation in a Qatari Patient With Hyper-IgE Syndrome.
Chaimowitz NS, Branch J, Reyes A, Vargas-Hernández A, Orange JS, Forbes LR, Ehlayel M, Purayil SC, Al-Nesf MA, Vogel TP. Chaimowitz NS, et al. Among authors: branch j. Front Pediatr. 2019 Apr 24;7:130. doi: 10.3389/fped.2019.00130. eCollection 2019. Front Pediatr. 2019. PMID: 31069200 Free PMC article.
You Will Not Believe What We Found in the Urine Sediment.
Ezra S, House N, Branch J, Sadrzadeh SMH. Ezra S, et al. Among authors: branch j. J Appl Lab Med. 2024 May 2;9(3):635-639. doi: 10.1093/jalm/jfad132. J Appl Lab Med. 2024. PMID: 38442231 No abstract available.
The Identification of CELSR3 and Other Potential Cell Surface Targets in Neuroendocrine Prostate Cancer.
Van Emmenis L, Ku SY, Gayvert K, Branch JR, Brady NJ, Basu S, Russell M, Cyrta J, Vosoughi A, Sailer V, Alnajar H, Dardenne E, Koumis E, Puca L, Robinson BD, Feldkamp MD, Winkis A, Majewski N, Rupnow B, Gottardis MM, Elemento O, Rubin MA, Beltran H, Rickman DS. Van Emmenis L, et al. Among authors: branch jr. Cancer Res Commun. 2023 Aug 3;3(8):1447-1459. doi: 10.1158/2767-9764.CRC-22-0491. eCollection 2023 Aug. Cancer Res Commun. 2023. PMID: 37546702 Free PMC article.
131 results