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MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.
Am J Med Genet A. 2023 Jun;191(6):1492-1501. doi: 10.1002/ajmg.a.63159. Epub 2023 Mar 8.
Am J Med Genet A. 2023.
PMID: 36883293
A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder.
Galarreta CI, Wong K, Carmichael J, Woods J, Tise CG, Niehaus AD, Schildt AJ, Verscaj CP, Cusmano-Ozog KP.
Galarreta CI, et al. Among authors: verscaj cp.
Am J Med Genet A. 2023 Aug;191(8):2057-2063. doi: 10.1002/ajmg.a.63234. Epub 2023 May 5.
Am J Med Genet A. 2023.
PMID: 37144748
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Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM20C.
Verscaj CP, Smith C, Homeyer M, Matalon DR.
Verscaj CP, et al.
Prenat Diagn. 2024 Mar;44(3):369-372. doi: 10.1002/pd.6506. Epub 2024 Jan 1.
Prenat Diagn. 2024.
PMID: 38163266
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Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
Verscaj CP, Velez-Bartolomei F, Bodle E, Chan K, Lyons MJ, Thorson W, Tan WH, Rodig N, Graham JM Jr, Peron A, Quintero-Rivera F, Zackai EH, Thomas MA, Stevens CA, Adam MP, Bird LM, Jones MC, Matalon DR.
Verscaj CP, et al.
Prenat Diagn. 2024 Feb;44(2):237-246. doi: 10.1002/pd.6424. Epub 2023 Aug 26.
Prenat Diagn. 2024.
PMID: 37632214
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