Analysis workflow to assess de novo genetic variants from human whole-exome sequencing

by Nicholas S. Diab, Spencer King, Weilai Dong, Garrett Allington, Amar Sheth, Samuel T. Peters, Kristopher T. Kahle, Sheng Chih Jin
Published 2021-03-01

Molecular Genetics and Complex Inheritance of Congenital Heart Disease

by Nicholas S. Diab, Syndi Barish, Weilai Dong, Shujuan Zhao, Garrett Allington, Xiaobing Yu, Kristopher T. Kahle, Martina Brueckner, Sheng Chih Jin
Published 2021-06-01

SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus

by Sheng Chih Jin, Charuta G. Furey, Xue Zeng, August Allocco, Carol Nelson‐Williams, Weilai Dong, Jason K. Karimy, Kevin Wang, Shaojie Ma, Eric Delpire, Kristopher T. Kahle
Published 2019-09-01

Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3

by August A. Allocco, Sheng Chih Jin, Sheng Chih Jin, Phan Q. Duy, Charuta G. Furey, Xue Zeng, Xue Zeng, Weilai Dong, Carol Nelson-Williams, Jason K. Karimy, Tyrone DeSpenza, Le T. Hao, Benjamin Reeves, Shozeb Haider, Murat Gunel, Murat Gunel, Richard P. Lifton, Richard P. Lifton, Kristopher T. Kahle, Kristopher T. Kahle, Kristopher T. Kahle, Kristopher T. Kahle
Published 2019-09-01

Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice

by Jae Yeon Hwang, Shoaib Nawaz, Shoaib Nawaz, Jungmin Choi, Jungmin Choi, Huafeng Wang, Shabir Hussain, Mehboob Nawaz, Francesc Lopez-Giraldez, Kyungjo Jeong, Weilai Dong, Jong-Nam Oh, Jong-Nam Oh, Kaya Bilguvar, Kaya Bilguvar, Shrikant Mane, Chang-Kyu Lee, Chang-Kyu Lee, Christopher Bystroff, Richard P. Lifton, Wasim Ahmad, Wasim Ahmad, Jean-Ju Chung, Jean-Ju Chung
Published 2021-04-01

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

by Weilai Dong, Sheng Chih Jin, August Allocco, Xue Zeng, Amar H. Sheth, Shreyas Panchagnula, Annie Castonguay, Louis-Étienne Lorenzo, Barira Islam, Geneviève Brindle, Karine Bachand, Jamie Hu, Agata Sularz, Jonathan Gaillard, Jungmin Choi, Ashley Dunbar, Carol Nelson-Williams, Emre Kiziltug, Charuta Gavankar Furey, Sierra Conine, Phan Q. Duy, Adam J. Kundishora, Erin Loring, Boyang Li, Qiongshi Lu, Geyu Zhou, Wei Liu, Xinyue Li, Michael C. Sierant, Shrikant Mane, Christopher Castaldi, Francesc López-Giráldez, James R. Knight, Raymond F. Sekula, Jr., J. Marc Simard, Emad N. Eskandar, Christopher Gottschalk, Jennifer Moliterno, Murat Günel, Jason L. Gerrard, Sulayman Dib-Hajj, Stephen G. Waxman, Fred G. Barker, II, Seth L. Alper, Mohamed Chahine, Shozeb Haider, Yves De Koninck, Richard P. Lifton, Kristopher T. Kahle
Published 2020-10-01