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Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S. Reurink J, et al. Among authors: phan m. HGG Adv. 2023 Jan 18;4(2):100181. doi: 10.1016/j.xhgg.2023.100181. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 36785559 Free PMC article.
Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant.
Bax NM, Sangermano R, Roosing S, Thiadens AA, Hoefsloot LH, van den Born LI, Phan M, Klevering BJ, Westeneng-van Haaften C, Braun TA, Zonneveld-Vrieling MN, de Wijs I, Mutlu M, Stone EM, den Hollander AI, Klaver CC, Hoyng CB, Cremers FP. Bax NM, et al. Among authors: phan m. Hum Mutat. 2015 Jan;36(1):43-7. doi: 10.1002/humu.22717. Hum Mutat. 2015. PMID: 25363634
Long-term outcomes of vitrectomy for proliferative diabetic retinopathy.
Schreur V, Brouwers J, Van Huet RAC, Smeets S, Phan M, Hoyng CB, de Jong EK, Klevering BJ. Schreur V, et al. Among authors: phan m. Acta Ophthalmol. 2021 Feb;99(1):83-89. doi: 10.1111/aos.14482. Epub 2020 Jul 9. Acta Ophthalmol. 2021. PMID: 32643273 Free PMC article.
Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency.
Veldman BCF, Kuper WFE, Lilien M, Schuurs-Hoeijmakers JHM, Marcelis C, Phan M, Hettinga Y, Talsma HE, van Hasselt PM, Haijes HA. Veldman BCF, et al. Among authors: phan m. Am J Med Genet A. 2021 Jul;185(7):2204-2210. doi: 10.1002/ajmg.a.62225. Epub 2021 May 3. Am J Med Genet A. 2021. PMID: 33938610 Free PMC article.
High-risk Escherichia coli clones that cause neonatal meningitis and association with recrudescent infection.
Nhu NTK, Phan MD, Hancock SJ, Peters KM, Alvarez-Fraga L, Forde BM, Andersen SB, Miliya T, Harris PNA, Beatson SA, Schlebusch S, Bergh H, Turner P, Brauner A, Westerlund-Wikström B, Irwin AD, Schembri MA. Nhu NTK, et al. Among authors: phan md. Elife. 2024 Apr 16;12:RP91853. doi: 10.7554/eLife.91853. Elife. 2024. PMID: 38622998 Free PMC article.
The genetic landscape of chromosomal aberrations in 3776 Vietnamese fetuses with clinical anomalies during pregnancy.
Tran DC, Phan MN, Dao HT, Nguyen HL, Nguyen DA, Le QT, Hoang DT, Tran NT, Thi Ha TM, Dinh TL, Nguyen CC, Thi Doan KP, Thi Luong LA, Vo TS, Nhat Trinh TH, Nguyen VT, Vo PN, Nguyen YN, Dinh MA, Doan PL, Do TT, Nguyen QT, Truong DK, Nguyen HN, Phan MD, Tang HS, Giang H. Tran DC, et al. Among authors: phan mn, phan md. Per Med. 2024 Apr 4. doi: 10.2217/pme-2023-0113. Online ahead of print. Per Med. 2024. PMID: 38573622
Clinical Outcomes Among Immunotherapy-Treated Patients With Primary Cardiac Soft Tissue Sarcomas: A Multicenter Retrospective Study.
Nassar AH, El-Am E, Denu R, Abou Alaiwi S, El Zarif T, Macaron W, Abdel-Wahab N, Desai A, Smith C, Parikh K, Abbasi M, Bou Farhat E, Williams JM, Collins JD, Al-Hader A, McKay RR, Malvar C, Sabra M, Zhong C, El Alam R, Chehab O, Lima J, Phan M, Dalla Pria HF, Trevino A, Neilan TG, Kwan JM, Ravi V, Deshpande H, Demetri G, Choueiri TK, Naqash AR. Nassar AH, et al. Among authors: phan m. JACC CardioOncol. 2024 Jan 16;6(1):71-79. doi: 10.1016/j.jaccao.2023.11.007. eCollection 2024 Feb. JACC CardioOncol. 2024. PMID: 38510282 Free PMC article.
459 results