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Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM20C.
Prenat Diagn. 2024 Mar;44(3):369-372. doi: 10.1002/pd.6506. Epub 2024 Jan 1.
Prenat Diagn. 2024.
PMID: 38163266
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
Review.
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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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MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.
Tise CG, Verscaj CP, Mendelsohn BA, Woods J, Lee CU, Enns GM, Stander Z, Hall PL, Cowan TM, Cusmano-Ozog KP.
Tise CG, et al. Among authors: verscaj cp.
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
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