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Page 1
The genetic basis of DOORS syndrome: an exome-sequencing study.
Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM. Campeau PM, et al. Among authors: cheung sw. Lancet Neurol. 2014 Jan;13(1):44-58. doi: 10.1016/S1474-4422(13)70265-5. Epub 2013 Nov 29. Lancet Neurol. 2014. PMID: 24291220 Free PMC article.
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
Szafranski P, Schaaf CP, Person RE, Gibson IB, Xia Z, Mahadevan S, Wiszniewska J, Bacino CA, Lalani S, Potocki L, Kang SH, Patel A, Cheung SW, Probst FJ, Graham BH, Shinawi M, Beaudet AL, Stankiewicz P. Szafranski P, et al. Among authors: cheung sw. Hum Mutat. 2010 Jul;31(7):840-50. doi: 10.1002/humu.21284. Hum Mutat. 2010. PMID: 20506139 Free PMC article.
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.
Ou Z, Stankiewicz P, Xia Z, Breman AM, Dawson B, Wiszniewska J, Szafranski P, Cooper ML, Rao M, Shao L, South ST, Coleman K, Fernhoff PM, Deray MJ, Rosengren S, Roeder ER, Enciso VB, Chinault AC, Patel A, Kang SH, Shaw CA, Lupski JR, Cheung SW. Ou Z, et al. Among authors: cheung sw. Genome Res. 2011 Jan;21(1):33-46. doi: 10.1101/gr.111609.110. Genome Res. 2011. PMID: 21205869 Free PMC article.
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.
Celestino-Soper PB, Skinner C, Schroer R, Eng P, Shenai J, Nowaczyk MM, Terespolsky D, Cushing D, Patel GS, Immken L, Willis A, Wiszniewska J, Matalon R, Rosenfeld JA, Stevenson RE, Kang SH, Cheung SW, Beaudet AL, Stankiewicz P. Celestino-Soper PB, et al. Among authors: cheung sw. Mol Cytogenet. 2012 Apr 5;5:17. doi: 10.1186/1755-8166-5-17. Mol Cytogenet. 2012. PMID: 22480366 Free PMC article.
MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.
Lalani SR, Ware SM, Wang X, Zapata G, Tian Q, Franco LM, Jiang Z, Bucasas K, Scott DA, Campeau PM, Hanchard N, Umaña L, Cast A, Patel A, Cheung SW, McBride KL, Bray M, Craig Chinault A, Boggs BA, Huang M, Baker MR, Hamilton S, Towbin J, Jefferies JL, Fernbach SD, Potocki L, Belmont JW. Lalani SR, et al. Among authors: cheung sw. Hum Mol Genet. 2013 Nov 1;22(21):4339-48. doi: 10.1093/hmg/ddt283. Epub 2013 Jun 16. Hum Mol Genet. 2013. PMID: 23773997 Free PMC article.
De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations.
Probst FJ, James RA, Burrage LC, Rosenfeld JA, Bohan TP, Ward Melver CH, Magoulas P, Austin E, Franklin AI, Azamian M, Xia F, Patel A, Bi W, Bacino C, Belmont JW, Ware SM, Shaw C, Cheung SW, Lalani SR. Probst FJ, et al. Among authors: cheung sw. Orphanet J Rare Dis. 2015 Jun 14;10:75. doi: 10.1186/s13023-015-0291-0. Orphanet J Rare Dis. 2015. PMID: 26070612 Free PMC article.
535 results