1. 116 Exome Sequencing Uncovers Molecular Determinants of Trigeminal Neuralgia. Issue Volume 65:Issue CN(2018)Supplement 1 (16th August 2018) Authors: Choi, Jungmin; Zeng, Xue; Jin, Sheng Chih; Gaillard, Jonathan; Duran, Daniel; Nelson-Williams, Carol; Panchagnula, Shreyas; Dib-Hajj, Sulayman; Barker, Frederick G; Sekula, Raymond F; Waxman, Stephen; Gunel, Murat; Lifton, Richard P; T., Kristopher Journal: Neurosurgery Issue: Volume 65:Issue CN(2018)Supplement 1 Page Start: 85 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 125 De Novo Mutations in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus. Issue Volume 65:Issue CN(2018)Supplement 1 (16th August 2018) Authors: Furey, Charuta Gavankar; Jin, Sheng Chih; Timberlake, Andrew T; Choi, Jungmin; Zeng, Xue; Nelson-Williams, Carol; Mansuri, Mohammad; Lu, Qiongshi; Duran, Daniel; Panchagnula, Shreyas; Alloco, August; Karimy, Jason K; Gaillard, Jonathan; Khanna, Arjun; Butler, William; Smith, Edward R; Warf, Benja... Journal: Neurosurgery Issue: Volume 65:Issue CN(2018)Supplement 1 Page Start: 88 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Exome Sequencing Defines the Molecular Pathogenesis of Vein of Galen Malformation. (1st September 2019) Authors: Kundishora, Adam; Zeng, Xue; Duran, Daniel; Allocco, August A; Choi, Jungmin; Jin, Sheng Chih; Conine, Sierra B; Nelson-Williams, Carol; Gaillard, Jonathan; Furey, Charuta G; Timberlake, Andrew T; Mansuri, Mohammad; Sorscher, Michelle; Klein, Jennifer; Lu, Qiongshi; Montejo, Julio D; Vera, Albert... Journal: Neurosurgery Issue: Volume 66(2010)Supplement 1 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Exome Sequencing Defines the Molecular Pathogenesis of Vein of Galen Malformation. (September 2019) Authors: Kundishora, Adam; Zeng, Xue; Duran, Daniel; Allocco, August A; Choi, Jungmin; Jin, Sheng Chih; Conine, Sierra B; Nelson‐Williams, Carol; Gaillard, Jonathan; Furey, Charuta G; Timberlake, Andrew T; Mansuri, Mohammad; Sorscher, Michelle; Klein, Jennifer; Lu, Qiongshi; Montejo, Julio D; Vera, Albert... Journal: Neurosurgery Issue: Volume 66(2019)Supplement Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Exome Sequencing Implicates SWI/SNF Chromatin Remodeling Genes in Human Congenital Hydrocephalus. (1st September 2019) Authors: Allocco, August A; Jin, Sheng Chih; Dong, Weilai; Zeng, Xue; Conine, Sierra B; Furey, Charuta Gavankar; Date, Priya Prakash; Gaillard, Jonathan; Nelson-Williams, Carol; Dunbar, Ashley; DeSpenza, Tyrone; Deniz, Engin; Khokha, Mustafa Kezar; Lifton, Richard P; Kahle, Kristopher T Journal: Neurosurgery Issue: Volume 66(2010)Supplement 1 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Exome Sequencing Implicates SWI/SNF Chromatin Remodeling Genes in Human Congenital Hydrocephalus. (September 2019) Authors: Allocco, August A; Jin, Sheng Chih; Dong, Weilai; Zeng, Xue; Conine, Sierra B; Furey, Charuta Gavankar; Date, Priya Prakash; Gaillard, Jonathan; Nelson‐Williams, Carol; Dunbar, Ashley; DeSpenza, Tyrone; Deniz, Engin; Khokha, Mustafa Kezar; Lifton, Richard P; Kahle, Kristopher T Journal: Neurosurgery Issue: Volume 66(2019)Supplement Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genetic diseases of the kidney. (2009) Other Names: Lifton, Richard P Record Type: Book Extent: 1 online resource (848 pages) View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. Issue 3 (9th March 2018) Authors: Braun, Daniela A; Warejko, Jillian K; Ashraf, Shazia; Tan, Weizhen; Daga, Ankana; Schneider, Ronen; Hermle, Tobias; Jobst-Schwan, Tilman; Widmeier, Eugen; Majmundar, Amar J; Nakayama, Makiko; Schapiro, David; Rao, Jia; Schmidt, Johanna Magdalena; Hoogstraten, Charlotte A; Hugo, Hannah; Bakkaloglu... Journal: Nephrology dialysis transplantation Issue: Volume 34:Issue 3(2019) Page Start: 485 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. Issue 10 (14th August 2015) Authors: Perrault, Isabelle; Halbritter, Jan; Porath, Jonathan D; Gérard, Xavier; Braun, Daniela A; Gee, Heon Yung; Fathy, Hanan M; Saunier, Sophie; Cormier-Daire, Valérie; Thomas, Sophie; Attié-Bitach, Tania; Boddaert, Nathalie; Taschner, Michael; Schueler, Markus; Lorentzen, Esben; Lifton, Richard P; La... Journal: Journal of medical genetics Issue: Volume 52:Issue 10(2015) Page Start: 657 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Integrative Genomics Implicates Genetic Disruption of Prenatal Neurogenesis in Congenital Hydrocephalus. (16th November 2020) Authors: Panchagnula, Shreyas; Jin, Sheng C; Dong, Weilai; Kundishora, Adam; Moreno-De-Luca, Andres; Furey, Charuta G; Allocco, August A; Walker, Rebecca; Nelson-Williams, Carol; Smith, Hannah; Dunbar, Ashley; Conine, Sierra B; Lu, Qiongshi; Zen, Xue; Sierant, Michael; Knight, James; Sullivan, William; Ph... Journal: Neurosurgery Issue: Volume 67(2010)Supplement 1 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗