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De novo MYH9 mutation in congenital scalp hemangioma.
Fomchenko EI, Duran D, Jin SC, Dong W, Erson-Omay EZ, Antwi P, Allocco A, Gaillard JR, Huttner A, Gunel M, DiLuna ML, Kahle KT. Fomchenko EI, et al. Among authors: jin sc. Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4):a002998. doi: 10.1101/mcs.a002998. Print 2018 Aug. Cold Spring Harb Mol Case Stud. 2018. PMID: 29903892 Free PMC article.
De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.
Furey CG, Choi J, Jin SC, Zeng X, Timberlake AT, Nelson-Williams C, Mansuri MS, Lu Q, Duran D, Panchagnula S, Allocco A, Karimy JK, Khanna A, Gaillard JR, DeSpenza T, Antwi P, Loring E, Butler WE, Smith ER, Warf BC, Strahle JM, Limbrick DD, Storm PB, Heuer G, Jackson EM, Iskandar BJ, Johnston JM, Tikhonova I, Castaldi C, López-Giráldez F, Bjornson RD, Knight JR, Bilguvar K, Mane S, Alper SL, Haider S, Guclu B, Bayri Y, Sahin Y, Apuzzo MLJ, Duncan CC, DiLuna ML, Günel M, Lifton RP, Kahle KT. Furey CG, et al. Among authors: jin sc. Neuron. 2018 Jul 25;99(2):302-314.e4. doi: 10.1016/j.neuron.2018.06.019. Epub 2018 Jul 5. Neuron. 2018. PMID: 29983323 Free PMC article.
Human Genetics and Molecular Mechanisms of Congenital Hydrocephalus.
Furey CG, Zeng X, Dong W, Jin SC, Choi J, Timberlake AT, Dunbar AM, Allocco AA, Günel M, Lifton RP, Kahle KT. Furey CG, et al. Among authors: jin sc. World Neurosurg. 2018 Nov;119:441-443. doi: 10.1016/j.wneu.2018.09.018. Epub 2018 Sep 8. World Neurosurg. 2018. PMID: 30205212 No abstract available.
Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.
Duran D, Zeng X, Jin SC, Choi J, Nelson-Williams C, Yatsula B, Gaillard J, Furey CG, Lu Q, Timberlake AT, Dong W, Sorscher MA, Loring E, Klein J, Allocco A, Hunt A, Conine S, Karimy JK, Youngblood MW, Zhang J, DiLuna ML, Matouk CC, Mane S, Tikhonova IR, Castaldi C, López-Giráldez F, Knight J, Haider S, Soban M, Alper SL, Komiyama M, Ducruet AF, Zabramski JM, Dardik A, Walcott BP, Stapleton CJ, Aagaard-Kienitz B, Rodesch G, Jackson E, Smith ER, Orbach DB, Berenstein A, Bilguvar K, Vikkula M, Gunel M, Lifton RP, Kahle KT. Duran D, et al. Among authors: jin sc. Neuron. 2019 Feb 6;101(3):429-443.e4. doi: 10.1016/j.neuron.2018.11.041. Epub 2018 Dec 18. Neuron. 2019. PMID: 30578106 Free PMC article.
Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3.
Allocco AA, Jin SC, Duy PQ, Furey CG, Zeng X, Dong W, Nelson-Williams C, Karimy JK, DeSpenza T, Hao LT, Reeves B, Haider S, Gunel M, Lifton RP, Kahle KT. Allocco AA, et al. Among authors: jin sc. Front Cell Neurosci. 2019 Sep 26;13:425. doi: 10.3389/fncel.2019.00425. eCollection 2019. Front Cell Neurosci. 2019. PMID: 31616254 Free PMC article.
205 results