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Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease. [electronic resource] by
- Benitez, Bruno A
- Davis, Albert A
- Jin, Sheng Chih
- Ibanez, Laura
- Ortega-Cubero, Sara
- Pastor, Pau
- Choi, Jiyoon
- Cooper, Breanna
- Perlmutter, Joel S
- Cruchaga, Carlos
Producer: 20161108
In:
Molecular neurodegeneration vol. 11
Availability: No items available.
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9.
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SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus. [electronic resource] by
- Jin, Sheng Chih
- Furey, Charuta G
- Zeng, Xue
- Allocco, August
- Nelson-Williams, Carol
- Dong, Weilai
- Karimy, Jason K
- Wang, Kevin
- Ma, Shaojie
- Delpire, Eric
- Kahle, Kristopher T
Producer: 20200617
In:
Molecular genetics & genomic medicine vol. 7
Availability: No items available.
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10.
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Human Genetics and Molecular Mechanisms of Congenital Hydrocephalus. [electronic resource] by
- Furey, Charuta Gavankar
- Zeng, Xue
- Dong, Weilai
- Jin, Sheng Chih
- Choi, Jungmin
- Timberlake, Andrew T
- Dunbar, Ashley M
- Allocco, August A
- Günel, Murat
- Lifton, Richard P
- Kahle, Kristopher T
Producer: 20181211
In:
World neurosurgery vol. 119
Availability: No items available.
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11.
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Coding variants in TREM2 increase risk for Alzheimer's disease. [electronic resource] by
- Jin, Sheng Chih
- Benitez, Bruno A
- Karch, Celeste M
- Cooper, Breanna
- Skorupa, Tara
- Carrell, David
- Norton, Joanne B
- Hsu, Simon
- Harari, Oscar
- Cai, Yefei
- Bertelsen, Sarah
- Goate, Alison M
- Cruchaga, Carlos
Producer: 20150610
In:
Human molecular genetics vol. 23
Availability: No items available.
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12.
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De novo [electronic resource] by
- Fomchenko, Elena I
- Duran, Daniel
- Jin, Sheng Chih
- Dong, Weilai
- Erson-Omay, E Zeynep
- Antwi, Prince
- Allocco, August
- Gaillard, Jonathan R
- Huttner, Anita
- Gunel, Murat
- DiLuna, Michael L
- Kahle, Kristopher T
Producer: 20190606
In:
Cold Spring Harbor molecular case studies vol. 4
Availability: No items available.
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13.
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Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility. [electronic resource] by
- Robson, Andrew
- Makova, Svetlana Z
- Barish, Syndi
- Zaidi, Samir
- Mehta, Sameet
- Drozd, Jeffrey
- Jin, Sheng Chih
- Gelb, Bruce D
- Seidman, Christine E
- Chung, Wendy K
- Lifton, Richard P
- Khokha, Mustafa K
- Brueckner, Martina
Producer: 20200330
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 116
Availability: No items available.
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14.
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The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers. [electronic resource] by
- Benitez, Bruno A
- Karch, Celeste M
- Cai, Yefei
- Jin, Sheng Chih
- Cooper, Breanna
- Carrell, David
- Bertelsen, Sarah
- Chibnik, Lori
- Schneider, Julie A
- Bennett, David A
- Fagan, Anne M
- Holtzman, David
- Morris, John C
- Goate, Alison M
- Cruchaga, Carlos
Producer: 20140321
In:
PLoS genetics vol. 9
Availability: No items available.
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15.
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Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in [electronic resource] by
- Allocco, August A
- Jin, Sheng Chih
- Duy, Phan Q
- Furey, Charuta G
- Zeng, Xue
- Dong, Weilai
- Nelson-Williams, Carol
- Karimy, Jason K
- DeSpenza, Tyrone
- Hao, Le T
- Reeves, Benjamin
- Haider, Shozeb
- Gunel, Murat
- Lifton, Richard P
- Kahle, Kristopher T
Publication details: Frontiers in cellular neuroscience 2019
In:
Frontiers in cellular neuroscience vol. 13
Availability: No items available.
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16.
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Digenic mutations of human [electronic resource] by
- Duran, Daniel
- Jin, Sheng Chih
- DeSpenza, Tyrone
- Nelson-Williams, Carol
- Cogal, Andrea G
- Abrash, Elizabeth W
- Harris, Peter C
- Lieske, John C
- Shimshak, Serena Je
- Mane, Shrikant
- Bilguvar, Kaya
- DiLuna, Michael L
- Günel, Murat
- Lifton, Richard P
- Kahle, Kristopher T
Publication details: Human genome variation 2016
In:
Human genome variation vol. 3
Availability: No items available.
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17.
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Mutations in [electronic resource] by
- Timberlake, Andrew T
- Jin, Sheng Chih
- Nelson-Williams, Carol
- Wu, Robin
- Furey, Charuta G
- Islam, Barira
- Haider, Shozeb
- Loring, Erin
- Galm, Amy
- Steinbacher, Derek M
- Larysz, Dawid
- Staffenberg, David A
- Flores, Roberto L
- Rodriguez, Eduardo D
- Boggon, Titus J
- Persing, John A
- Lifton, Richard P
Producer: 20200330
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 116
Availability: No items available.
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18.
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TREM2 is associated with increased risk for Alzheimer's disease in African Americans. [electronic resource] by
- Jin, Sheng Chih
- Carrasquillo, Minerva M
- Benitez, Bruno A
- Skorupa, Tara
- Carrell, David
- Patel, Dwani
- Lincoln, Sarah
- Krishnan, Siddharth
- Kachadoorian, Michaela
- Reitz, Christiane
- Mayeux, Richard
- Wingo, Thomas S
- Lah, James J
- Levey, Allan I
- Murrell, Jill
- Hendrie, Hugh
- Foroud, Tatiana
- Graff-Radford, Neill R
- Goate, Alison M
- Cruchaga, Carlos
- Ertekin-Taner, Nilüfer
Producer: 20150925
In:
Molecular neurodegeneration vol. 10
Availability: No items available.
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19.
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The FGF and FGFR Gene Family and Risk of Cleft Lip With or Without Cleft Palate. [electronic resource] by
- Wang, Hong
- Zhang, Tianxiao
- Wu, Tao
- Hetmanski, Jacqueline B
- Ruczinski, Ingo
- Schwender, Holger
- Liang, Kung Yee
- Murray, Tanda
- Fallin, M Daniele
- Redett, Richard J
- Raymond, Gerald V
- Jin, Sheng-Chih
- Chou, Yah-Huei Wu
- Chen, Philip Kuo-Ting
- Yeow, Vincent
- Chong, Samuel S
- Cheah, Felicia S H
- Jee, Sun Ha
- Jabs, Ethylin W
- Scott, Alan F
- Beaty, Terri H
Producer: 20160422
In:
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association vol. 50
Availability: No items available.
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20.
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CLCN2 chloride channel mutations in familial hyperaldosteronism type II. [electronic resource] by
- Scholl, Ute I
- Stölting, Gabriel
- Schewe, Julia
- Thiel, Anne
- Tan, Hua
- Nelson-Williams, Carol
- Vichot, Alfred A
- Jin, Sheng Chih
- Loring, Erin
- Untiet, Verena
- Yoo, Taekyeong
- Choi, Jungmin
- Xu, Shengxin
- Wu, Aihua
- Kirchner, Marieluise
- Mertins, Philipp
- Rump, Lars C
- Onder, Ali Mirza
- Gamble, Cory
- McKenney, Daniel
- Lash, Robert W
- Jones, Deborah P
- Chune, Gary
- Gagliardi, Priscila
- Choi, Murim
- Gordon, Richard
- Stowasser, Michael
- Fahlke, Christoph
- Lifton, Richard P
Producer: 20190510
In:
Nature genetics vol. 50
Availability: No items available.
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