Category Archives: Selected Publications

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation

Neuron 101, 1–15, February 6, 2019

https://doi.org/10.1016/j.neuron.2018.11.041

Daniel Duran*, Xue Zeng*, Sheng Chih Jin*, Jungmin Choi*, Carol Nelson-Williams, Bogdan Yatsula, Jonathan Gaillard, Charuta Gavankar Furey, Qiongshi Lu, Andrew T. Timberlake, Weilai Dong, Michelle A. Sorscher, Erin Loring, Jennifer Klein, August Allocco, Ava Hunt, Sierra Conine, Jason K. Karimy, Mark W. Youngblood, Jinwei Zhang, Michael L. DiLuna, Charles C. Matouk, Shrikant Mane, Irina R. Tikhonova, Christopher Castaldi, Francesc López-Giráldez, James Knight, Shozeb Haider, Mariya Soban, Seth L. Alper, Masaki Komiyama, Andrew F. Ducruet, Joseph M. Zabramski, Alan Dardik, Brian P. Walcott, Christopher J. Stapleton, Beverly Aagaard-Kienitz, Georges Rodesch, Eric Jackson, Edward R. Smith, Darren B. Orbach, Alejandro Berenstein, Kaya Bilguvar, Miikka Vikkula, Murat Gunel, Richard P. Lifton, Kristopher T. Kahle

* Co-first Author

De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus

Neuron 99, 1–13, July 25, 2018 (Cover Story)

https://www.sciencedirect.com/science/article/pii/S0896627318304872

Charuta Gavankar Furey*, Jungmin Choi*, Sheng Chih Jin#, Xue Zeng#, Andrew T. Timberlake, Carol Nelson-Williams, M. Shahid Mansuri, Qiongshi Lu, Daniel Duran, Shreyas Panchagnula, August Allocco, Jason K. Karimy, Arjun Khanna, Jonathan, R. Gaillard, Tyrone DeSpenza, Prince Antwi, Erin Loring, William E. Butler, Edward R. Smith, Benjamin C. Warf, Jennifer M. Strahle, David D. Limbrick, Phillip B. Storm, Gregory Heuer, Eric M. Jackson, Bermans J. Iskandar, James M. Johnston, Irina Tikhonova, Christopher Castaldi, Francesc López-Giráldez, Robert D. Bjornson, James R. Knight, Kaya Bilguvar, Shrikant Mane, Seth L. Alper, Shozeb Haider, Bulent Guclu, Yasar Bayri, Yener Sahin, Michael L.J. Apuzzo, Charles C. Duncan, Michael L. DiLuna, Murat Günel, Richard P. Lifton, and Kristopher T. Kahle

* Co-First Author, # Co-Second Author

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

Nature Genetics, 49, 1593–1601 (2017)

https://www.nature.com/articles/ng.3970

Sheng Chih Jin*, Jason Homsy*, Samir Zaidi*, Qiongshi Lu, Sarah Morton, Steven R DePalma, Xue Zeng, Hongjian Qi, Weni Chang, Michael C Sierant, Wei-Chien Hung, Shozeb Haider, Junhui Zhang, James Knight, Robert D Bjornson, Christopher Castaldi, Irina R Tikhonoa, Kaya Bilguvar, Shrikant M Mane, Stephan J Sanders, Seema Mital, Mark W Russell, J William Gaynor, John Deanfield, Alessandro Giardini, George A Porter Jr, Deepak Srivastava, Cecelia W Lo, Yufeng Shen, W Scott Watkins, Mark Yandell, H Joseph Yost, Martin Tristani-Firouzi, Jane W Newburger, Amy E Roberts, Richard Kim, Hongyu Zhao, Jonathan R Kaltman, Elizabeth Goldmuntz, Wendy K Chung, Jonathan G Seidman, Bruce D Gelb, Christine E Seidman, Richard P Lifton & Martina Brueckner

* Co-First Author