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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.
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
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.
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.
Combination of Hotspot Mutations With Methylation and Fragmentomic Profiles to Enhance Multi-Cancer Early Detection.
Nguyen THH, Vu GH, Nguyen TT, Nguyen TA, Tran VU, Vu LT, Nguyen GTH, Nguyen ND, Tran TH, Nguyen VTC, Nguyen TD, Nguyen TH, Vo DH, Van TTV, Do TT, Le MP, Huynh LAK, Nguyen DS, Tang HS, Nguyen HN, Phan MD, Giang H, Tu LN, Tran LS. Nguyen THH, et al. Among authors: phan md. Cancer Med. 2025 Jan;14(1):e70575. doi: 10.1002/cam4.70575. Cancer Med. 2025. PMID: 39748775 Free PMC article.
Characterization of Somatostatin Receptor 2 Gene Expression and Immune Landscape in Sinonasal Malignancies.
Xue E, Bracken-Clarke D, Krause H, Adeyelu T, Evans MG, Akbulut D, Quezado M, Gandhi N, Farrell A, Soares HP, Lou E, Phan M, Patel R, Vanderwalde AM, Elliott A, Steuer CE, Saba NF, Lubin DJ, London NR Jr, Gulley JL, Floudas CS. Xue E, et al. Among authors: phan m. Cancers (Basel). 2024 Nov 24;16(23):3931. doi: 10.3390/cancers16233931. Cancers (Basel). 2024. PMID: 39682120 Free PMC article.
494 results