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Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children's hospital.
Am J Med Genet A. 2023 Aug;191(8):2149-2155. doi: 10.1002/ajmg.a.63302. Epub 2023 May 22.
Am J Med Genet A. 2023.
PMID: 37212523
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
Thomas-Wilson A, Schacht JP, Chitayat D, Blaser S, Santos FJR, Glaser K, Caffo A, Wentzensen IM, Henderson LB, Zhang F, Zhu Y, Di Corleto E, da Silva Costa F, Vink R, Alkhunaizi E, Russell L, Buckley MF, Roscioli T, Pereira EM, Ganapathi M.
Thomas-Wilson A, et al. Among authors: santos fjr.
Am J Med Genet A. 2023 Jul;191(7):1935-1941. doi: 10.1002/ajmg.a.63203. Epub 2023 Apr 9.
Am J Med Genet A. 2023.
PMID: 37031378
Review.
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The prevalence and phenotypic range associated with biallelic PKDCC variants.
Pagnamenta AT, Belles RS, Salbert BA, Wentzensen IM, Guillen Sacoto MJ, Santos FJR, Caffo A, Ferla M, Banos-Pinero B, Pawliczak K, Makvand M, Najmabadi H; Genomics England Research Consortium; Maroofian R, Lester T, Yanez-Felix AL, Villarroel-Cortes CE, Xia F, Al Fayez K, Al Hashem A, Shears D, Irving M, Offiah AC, Kariminejad A, Taylor JC.
Pagnamenta AT, et al. Among authors: santos fjr.
Clin Genet. 2023 Jul;104(1):121-126. doi: 10.1111/cge.14324. Epub 2023 Mar 10.
Clin Genet. 2023.
PMID: 36896672
Free PMC article.
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Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, Harlan De Crescenzo A, Kotzaeridou U, Syrbe S, Anagnostou E, Azage M, Bend R, Begtrup A, Brown NJ, Büttner B, Cho MT, Cooper GM, Doering JH, Dubourg C, Everman DB, Hildebrand MS, Santos FJR, Kellam B, Keller-Ramey J, Lemke JR, Liu S, Niyazov D, Payne K, Person R, Quélin C, Schnur RE, Smith BT, Strober J, Walker S, Wallis M, Walsh L, Yang S, Yuen RKC, Ziegler A, Sticht H, Pride MC, Orosco L, Martínez-Cerdeño V, Silverman JL, Crawley JN, Scherer SW, Zarbalis KS, Jamra R.
Le Duc D, et al. Among authors: santos fjr.
Brain. 2019 Sep 1;142(9):2617-2630. doi: 10.1093/brain/awz198.
Brain. 2019.
PMID: 31327001
Free PMC article.
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Menkes Disease: Clinical Presentation and Imaging Characteristics.
Means MJ, Santos FJR, Sotardi ST, Beslow LA.
Means MJ, et al. Among authors: santos fjr.
Neuropediatrics. 2022 Jun;53(3):218-220. doi: 10.1055/a-1762-0354. Epub 2022 Feb 4.
Neuropediatrics. 2022.
PMID: 35122229
No abstract available.
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