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[期刊论文] 作者：David T.Miller,James F.Gusella,Orah S.Platt,on behalf of the Children\'s Hospital Boston Genotype Phenotype,
来源：遗传学报 年份：2011
Recurrent genomic imbalances at 16p 11.2 are genetic risk factors of variable penetrance for developmental delay and autism.Recently, 16pl 1.2(chr16:29.5 Mb—30...
Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short invert
[会议论文] 作者：Shen,Feng Zhang,Colby Chiang,Vamsee Pillalamarri,Ian Blumenthal,Michael Talkowski,Bai-Lin Wu,James F.Gusella,
来源：中国遗传学会第九次全国会员代表大会暨学术研讨会 年份：2013
NRXN1 microdeletions occur at relatively high frequency and confer increased risk for neurodevelopmental and neurobehavioral abnormalities.The mechanism that makes NRXN1 a deletion hotspot is unknown....
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