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Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa., Xu, Mingchu, Yamada Takeyuki, Sun Zixi, Eblimit Aiden, Lopez Irma, Wang Feng, Manya Hiroshi, Xu Shan, Zhao Li, Li Yumei, et al. , Human molecular genetics, 2016 Jan 28, (2016) Abstract
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome., Lalani, Seema R., Zhang Jing, Schaaf Christian P., Brown Chester W., Magoulas Pilar, Tsai Anne Chun-Hui, El-Gharbawy Areeg, Wierenga Klaas J., Bartholomew Dennis, Fong Chin-To, et al. , American journal of human genetics, 2014 Nov 6, Volume 95, Issue 5, p.579-83, (2014) Abstract
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease., Guo, Dong-Chuan, Papke Christina L., Tran-Fadulu Van, Regalado Ellen S., Avidan Nili, Johnson Ralph Jay, Kim Dong H., Pannu Hariyadarshi, Willing Marcia C., Sparks Elizabeth, et al. , American journal of human genetics, 2009 May, Volume 84, Issue 5, p.617-27, (2009) Abstract
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections., Guo, Dong-Chuan, Pannu Hariyadarshi, Tran-Fadulu Van, Papke Christina L., Yu Robert K., Avidan Nili, Bourgeois Scott, Estrera Anthony L., Safi Hazim J., Sparks Elizabeth, et al. , Nature genetics, 2007 Dec, Volume 39, Issue 12, p.1488-93, (2007) Abstract
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis., Gomez-Ospina, Natalia, Potter Carol J., Xiao Rui, Manickam Kandamurugu, Kim Mi-Sun, Kim Kang Ho, Shneider Benjamin L., Picarsic Jennifer L., Jacobson Theodora A., Zhang Jing, et al. , Nature communications, 2016, Volume 7, p.10713, (2016) Abstract
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm., Doyle, Alexander J., Doyle Jefferson J., Bessling Seneca L., Maragh Samantha, Lindsay Mark E., Schepers Dorien, Gillis Elisabeth, Mortier Geert, Homfray Tessa, Sauls Kimberly, et al. , Nature genetics, 2012 Nov, Volume 44, Issue 11, p.1249-54, (2012) Abstract
Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly., Gonzaga-Jauregui, Claudia, Lotze Timothy, Jamal Leila, Penney Samantha, Campbell Ian M., Pehlivan Davut, Hunter Jill V., Woodbury Suzanne L., Raymond Gerald, Adesina Adekunle M., et al. , JAMA neurology, 2013 Oct 14, (2013) Abstract
Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis., Chakraborty, Rikhia, Hampton Oliver A., Shen Xiaoyun, Simko Stephen, Shih Albert, Abhyankar Harshal, Lim Karen Phaik Har, Covington Kyle, Trevino Lisa, Dewal Ninad, et al. , Blood, 2014 Sep 8, (2014) Abstract
MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II., Pannu, Hariyadarshi, Tran-Fadulu Van, Papke Christina L., Scherer Steve, Liu Yaozhong, Presley Caroline, Guo Dongchuan, Estrera Anthony L., Safi Hazim J., Brasier Allan R., et al. , Human molecular genetics, 2007 Oct 15, Volume 16, Issue 20, p.2453-62, (2007) Abstract
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Nasopharyngeal Proteobacteria are associated with viral etiology and acute wheezing in children with severe bronchiolitis., Hyde, Embriette R., Petrosino Joseph F., Piedra Pedro A., Camargo Carlos A., Espinola Janice A., and Mansbach Jonathan M. , The Journal of allergy and clinical immunology, 2014 Apr, Volume 133, Issue 4, p.1220-1222.e3, (2014)
Natural killer cell regulation of implantation and early lung growth of H-ras-transformed 10T1/2 fibroblasts in mice., Greenberg, A. H., Egan S. E., Jarolim L., Gingras M. C., and Wright J. A. , Cancer research, 1987 Sep 15, Volume 47, Issue 18, p.4801-5, (1987) Abstract
Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines, Huang, W., Massouras A., Inoue Y., Peiffer J., Ramia M., Tarone A. M., Turlapati L., Zichner T., Zhu D., Lyman R. F., et al. , Genome Research, 07/2014, Volume 24, Issue 7, p.1193 - 1208, (2014)
Neighboring-nucleotide effects on single nucleotide polymorphisms: a study of 2.6 million polymorphisms across the human genome., Zhao, Zhongming, and Boerwinkle Eric , Genome research, 2002 Nov, Volume 12, Issue 11, p.1679-86, (2002) Abstract
A new diagnostic system for ultra-sensitive and specific detection and quantification of Candidatus Liberibacter asiaticus, the bacterium associated with citrus Huanglongbing., Lin, Hong, Chen Chuanwu, Doddapaneni Harshavardhan, Duan Yongping, Civerolo Edwin L., Bai Xianjin, and Zhao Xiaolong , Journal of microbiological methods, 2010 Apr, Volume 81, Issue 1, p.17-25, (2010) Abstract
New Found Association Between Mutated Tumor Suppressive Gene And Non-Hepatitis C Hepatocellular Carcinoma, Nguyen, NT, Harring TR, Drummond J., Chang K., Gingras M., Wheeler D. A., O'Mahoney CA, and Goss JA , Journal of Surgical Research, Volume 165, Number 2, p.177, (2011)
New Mutations in the RAB28 Gene in 2 Spanish Families With Cone-Rod Dystrophy., Riveiro-Álvarez, Rosa, Xie Yajing Angela, López-Martínez Miguel-Ángel, Gambin Tomasz, Pérez-Carro Raquel, Avila-Fernández Almudena, López-Molina María-Isabel, Zernant Jana, Jhangiani Shalini, Muzny Donna, et al. , JAMA ophthalmology, 2014 Oct 30, (2014) Abstract
New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11, Xie, Y., Lee W., Cai C., Gambin T., Noupuu K., Sujirakul T., Ayuso C., Jhangiani S., Muzny D., Boerwinkle E., et al. , Human Molecular Genetics, (2014)
New technique for lacrimal system intubation., Wang, Linghua, Chen Dong, and Wang Zhichong , American journal of ophthalmology, 2006 Aug, Volume 142, Issue 2, p.252-8, (2006) Abstract
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements., Wang, Feng, Wang Hui, Tuan Han-Fang, Nguyen Duy H., Sun Vincent, Keser Vafa, Bowne Sara J., Sullivan Lori S., Luo Hongrong, Zhao Ling, et al. , Human genetics, 2013 Oct 24, (2013) Abstract
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements., Wang, Feng, Wang Hui, Tuan Han-Fang, Nguyen Duy H., Sun Vincent, Keser Vafa, Bowne Sara J., Sullivan Lori S., Luo Hongrong, Zhao Ling, et al. , Human genetics, 2014 Mar, Volume 133, Issue 3, p.331-45, (2014) Abstract
Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients., Salvo, Jason, Lyubasyuk Vera, Xu Mingchu, Wang Hui, Wang Feng, Nguyen Duy, Wang Keqing, Luo Hongrong, Wen Cindy, Shi Catherine, et al. , Investigative ophthalmology & visual science, 2015, Volume 56, Issue 3, p.1937-46, (2015) Abstract
Next-generation sequencing identifies rare variants associated with Noonan syndrome, Chen, P. - C., Yin J., Yu H. - W., Yuan T., Fernandez M., Yung C. K., Trinh Q. M., Peltekova V. D., Reid J. G., Tworog-Dube E., et al. , Proceedings of the National Academy of Sciences, 08/2014, Volume 111, Issue 31, p.11473 - 11478, (2014)
Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity., Tajiguli, Abulikemu, Xu Mingchu, Fu Qing, Yiming Rouzimaimaiti, Wang Keqing, Li Yumei, Eblimit Aiden, Sui Ruifang, Chen Rui, and Aisa Haji Akber , Scientific reports, 2016, Volume 6, p.21384, (2016) Abstract
Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa., Fu, Qing, Wang Feng, Wang Hui, Xu Fei, Zaneveld Jacques E., Ren Huanan, Keser Vafa, Lopez Irma, Tuan Han-Fang, Salvo Jason S., et al. , Investigative ophthalmology & visual science, 2013 Jun, Volume 54, Issue 6, p.4158-66, (2013) Abstract
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa., Ge, Zhongqi, Bowles Kristen, Goetz Kerry, Scholl Hendrik P. N., Wang Feng, Wang Xinjing, Xu Shan, Wang Keqing, Wang Hui, and Chen Rui , Scientific reports, 2015, Volume 5, p.18287, (2015) Abstract


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