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Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Genome Med. 2024 Jan 6;16(1):7. doi: 10.1186/s13073-023-01277-1.
Genome Med. 2024.
PMID: 38184646
Free PMC article.
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.
Bauwens M, Celik E, Zur D, Lin S, Quinodoz M, Michaelides M, Webster AR, Van Den Broeck F, Leroy BP, Rizel L, Moye AR, Meunier A, Tran HV, Moulin AP, Mahieu Q, Van Heetvelde M, Arno G, Rivolta C, De Baere E, Ben-Yosef T.
Bauwens M, et al. Among authors: mahieu q.
Am J Hum Genet. 2024 Feb 1;111(2):393-402. doi: 10.1016/j.ajhg.2024.01.001. Epub 2024 Jan 24.
Am J Hum Genet. 2024.
PMID: 38272031
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Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.
Del Pozo-Valero M, Almoallem B, Dueñas Rey A, Mahieu Q, Van Heetvelde M, Jeddawi L, Bauwens M, De Baere E.
Del Pozo-Valero M, et al. Among authors: mahieu q.
Clin Genet. 2024 Mar 11. doi: 10.1111/cge.14517. Online ahead of print.
Clin Genet. 2024.
PMID: 38468396
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