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TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.
Li G, Strong A, Wang H, Kim JS, Watson D, Zhao S, Vaccaro C, Hartung E, Hakonarson H, Zhang TJ, Giampietro PF, Wu N. Li G, et al. Among authors: vaccaro c. Am J Med Genet A. 2022 Dec;188(12):3469-3481. doi: 10.1002/ajmg.a.62972. Epub 2022 Sep 26. Am J Med Genet A. 2022. PMID: 36161696 Free PMC article.
Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes.
Glessner JT, Ningappa MB, Ngo KA, Zahid M, So J, Higgs BW, Sleiman PMA, Narayanan T, Ranganathan S, March M, Prasadan K, Vaccaro C, Reyes-Mugica M, Velazquez J, Salgado CM, Ebrahimkhani MR, Schmitt L, Rajasundaram D, Paul M, Pellegrino R, Gittes GK, Li D, Wang X, Billings J, Squires R, Ashokkumar C, Sharif K, Kelly D, Dhawan A, Horslen S, Lo CW, Shin D, Subramaniam S, Hakonarson H, Sindhi R. Glessner JT, et al. Among authors: vaccaro c. J Hepatol. 2023 Dec;79(6):1385-1395. doi: 10.1016/j.jhep.2023.07.039. Epub 2023 Aug 11. J Hepatol. 2023. PMID: 37572794 Free PMC article.
A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213.
Strong A, O'Grady G, Shih E, Bishop JR, Loomes K, Diamond T, Hartung EA, Wong W, Cuddapah S, Cahill AM, Hou C, Slater D, Vaccaro C, Watson D, Li D, Hakonarson H. Strong A, et al. Among authors: vaccaro c. Am J Med Genet A. 2021 Jul;185(7):2168-2174. doi: 10.1002/ajmg.a.62215. Epub 2021 May 7. Am J Med Genet A. 2021. PMID: 33960657 Free PMC article.
A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response.
Strong A, March ME, Cardinale CJ, Kim SE, Merves J, Whitworth H, Raffini L, Larosa C, Copelovitch L, Hou C, Slater D, Vaccaro C, Watson D, Zackai EH, Billheimer J, Hakonarson H. Strong A, et al. Among authors: vaccaro c. Am J Med Genet A. 2022 Feb;188(2):463-472. doi: 10.1002/ajmg.a.62537. Epub 2021 Oct 15. Am J Med Genet A. 2022. PMID: 34655156 Free PMC article.
Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis.
Li J, Li YR, Glessner JT, Yang J, March ME, Kao C, Vaccaro CN, Bradfield JP, Li J, Mentch FD, Qu HQ, Qi X, Chang X, Hou C, Abrams DJ, Qiu H, Wei Z, Connolly JJ, Wang F, Snyder J, Flatø B, Thompson SD, Langefeld CD, Lie BA, Munro JE, Wise C, Sleiman PMA, Hakonarson H. Li J, et al. Among authors: vaccaro cn. Arthritis Rheumatol. 2022 Aug;74(8):1420-1429. doi: 10.1002/art.42129. Epub 2022 Jul 15. Arthritis Rheumatol. 2022. PMID: 35347896 Free PMC article.
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Strong A, Rao S, von Hardenberg S, Li D, Cox LL, Lee PC, Zhang LQ, Awotoye W, Diamond T, Gold J, Gooch C, Gowans LJJ, Hakonarson H, Hing A, Loomes K, Martin N, Marazita ML, Mononen T, Piccoli D, Pfundt R, Raskin S, Scherer SW, Sobriera N, Vaccaro C, Wang X, Watson D, Weksberg R, Bhoj E, Murray JC, Lidral AC, Butali A, Buckley MF, Roscioli T, Koolen DA, Seaver LH, Prows CA, Stottmann RW, Cox TC. Strong A, et al. Among authors: vaccaro c. Am J Med Genet A. 2023 May;191(5):1227-1239. doi: 10.1002/ajmg.a.63130. Epub 2023 Feb 7. Am J Med Genet A. 2023. PMID: 36751037 Free PMC article.
256 results