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Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Yabumoto M, Kianmahd J, Singh M, Palafox MF, Wei A, Elliott K, Goodloe DH, Dean SJ, Gooch C, Murray BK, Swartz E, Schrier Vergano SA, Towne MC, Nugent K, Roeder ER, Kresge C, Pletcher BA, Grand K, Graham JM Jr, Gates R, Gomez-Ospina N, Ramanathan S, Clark RD, Glaser K, Benke PJ, Cohen JS, Fatemi A, Mu W, Baranano KW, Madden JA, Gubbels CS, Yu TW, Agrawal PB, Chambers MK, Phornphutkul C, Pugh JA, Tauber KA, Azova S, Smith JR, O'Donnell-Luria A, Medsker H, Srivastava S, Krakow D, Schweitzer DN, Arboleda VA. Yabumoto M, et al. Among authors: gooch c. Mol Genet Genomic Med. 2021 Oct;9(10):e1809. doi: 10.1002/mgg3.1809. Epub 2021 Sep 14. Mol Genet Genomic Med. 2021. PMID: 34519438 Free PMC article.
Near complete deletion of KMT2D in a college student.
Gooch C, Souder JP, Tedder ML, Kerkhof J, Lee JA, Louie RJ, Sadikovic B, Fletcher RS, Robin NH. Gooch C, et al. Am J Med Genet A. 2022 May;188(5):1550-1555. doi: 10.1002/ajmg.a.62652. Epub 2022 Jan 18. Am J Med Genet A. 2022. PMID: 35040536 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: gooch 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
Repeatedly in Rhabdomyolysis.
Gooch C, Dean SJ, Marzullo L. Gooch C, et al. Pediatr Emerg Care. 2021 Dec 1;37(12):e1759-e1760. doi: 10.1097/PEC.0000000000002079. Pediatr Emerg Care. 2021. PMID: 32205805
Inherited cause of in utero digital malformations.
Gooch C, Wright C, Nelson K, Robin N. Gooch C, et al. BMJ Case Rep. 2020 Mar 24;13(3):e232020. doi: 10.1136/bcr-2019-232020. BMJ Case Rep. 2020. PMID: 32209574 Free PMC article.
181 results