1.Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas

作　　者：M. Kyle Cromer ;Murim Choi ;Carol Nelson-Williams 等

出　　处：Proceedings of the National Academy of Sciences. 2015 ;112(13):4062-4067.doi:10.1073/pnas.1503696112

出版社：The National Academy of Sciences of the United States of America

文章 ID：103255208

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2.Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis

作　　者：Andrew T. Timberlake ;Sheng Chih Jin ;Carol Nelson-Williams 等

出　　处：Proceedings of the National Academy of Sciences. 2019 ;116(30):15116-15121.doi:10.1073/pnas.1902041116

出版社：The National Academy of Sciences of the United States of America

文章 ID：239019194

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3.Finding genetic contributions to sporadic disease: A recessive locus at 12q24 commonly contributes to patent ductus arteriosus

作　　者：Arya Mani ;Seyed-Mahmoud Meraji ;Roozbeh Houshyar 等

出　　处：Proceedings of the National Academy of Sciences. 2002 ;99(23):15054-15059.doi:10.1073/pnas.192582999

出版社：The National Academy of Sciences of the United States of America

文章 ID：200564864

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4.Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10

作　　者：Ute I. Scholl ;Murim Choi ;Tiewen Liu 等

出　　处：Proceedings of the National Academy of Sciences. 2009 ;106(14):5842-5847.doi:10.1073/pnas.0901749106

出版社：The National Academy of Sciences of the United States of America

文章 ID：200591292

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5.Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

作　　者：Murim Choi ;Ute I. Scholl ;Weizhen Ji 等

出　　处：Proceedings of the National Academy of Sciences. 2009 ;106(45):19096-19101.doi:10.1073/pnas.0910672106

出版社：The National Academy of Sciences of the United States of America

文章 ID：200592338

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6.A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism

作　　者：Catherine A. Brownstein ;Felix Adler ;Carol Nelson-Williams 等

出　　处：Proceedings of the National Academy of Sciences. 2008 ;105(9):3455-3460.doi:10.1073/pnas.0712361105

出版社：The National Academy of Sciences of the United States of America

文章 ID：200533707

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7.De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis

作　　者：Andrew T. Timberlake ;Charuta G. Furey ;Jungmin Choi 等

出　　处：Proceedings of the National Academy of Sciences. 2017 ;114(35):E7341-E7347.doi:10.1073/pnas.1709255114

出版社：The National Academy of Sciences of the United States of America

文章 ID：200343703

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8.WNK1, a kinase mutated in inherited hypertension with hyperkalemia, localizes to diverse Cl−-transporting epithelia

作　　者：Keith A. Choate ;Kristopher T. Kahle ;Frederick H. Wilson 等

出　　处：Proceedings of the National Academy of Sciences. 2003 ;100(2):663-668.doi:10.1073/pnas.242728499

出版社：The National Academy of Sciences of the United States of America

文章 ID：200563297

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9.Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia

作　　者：Weilai Dong ;Sheng Chih Jin ;August Allocco 等

出　　处：iScience. 2020 ;23(10):1-26.doi:10.1016/j.isci.2020.101552

出版社：Elsevier

文章 ID：1028821499

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	Carol Nelson-Williams	9篇
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	Shrikant Mane	3篇
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	Ute I. Scholl	2篇
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	Proceedings of the National Academy of Sciences	8篇
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