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Journal Article
Mutational landscape of aggressive cutaneous squamous cell carcinoma., Pickering, Curtis R., Zhou Jane H., Lee Jack J., Drummond Jennifer A., Peng Andrew S., Saade Rami E., Tsai Kenneth Y., Curry Jonathan, Tetzlaff Michael T., Lai Stephen Y., et al. , Clinical cancer research : an official journal of the American Association for Cancer Research, 2014 Oct 10, (2014) Abstract
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway., Enns, Gregory M., Shashi Vandana, Bainbridge Matthew, Gambello Michael J., Zahir Farah R., Bast Thomas, Crimian Rebecca, Schoch Kelly, Platt Julia, Cox Rachel, et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2014 Mar 20, (2014) Abstract
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway., Enns, Gregory M., Shashi Vandana, Bainbridge Matthew, Gambello Michael J., Zahir Farah R., Bast Thomas, Crimian Rebecca, Schoch Kelly, Platt Julia, Cox Rachel, et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2014 Oct, Volume 16, Issue 10, p.751-8, (2014) Abstract
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway, Enns, Gregory M., Shashi Vandana, Bainbridge Matthew, Gambello Michael J., Zahir Farah R., Bast Thomas, Crimian Rebecca, Schoch Kelly, Platt Julia, Cox Rachel, et al. , Genetics in Medicine, 03/2014, (2014)
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 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
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-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
Notch Activation as a Driver of Osteogenic Sarcoma., Tao, Jianning, Jiang Ming-Ming, Jiang Lichun, Salvo Jason S., Zeng Huan-Chang, Dawson Brian, Bertin Terry K., Rao Pulivarthi H., Chen Rui, Donehower Lawrence A., et al. , Cancer cell, 2014 Sep 8, Volume 26, Issue 3, p.390-401, (2014) Abstract
A novel beta-thalassaemia mutation in the 5' untranslated region of the beta-globin gene., Athanassiadou, A., Papachatzopoulou A., Zoumbos N., Maniatis G. M., and Gibbs R. , British journal of haematology, 1994 Oct, Volume 88, Issue 2, p.307-10, (1994) Abstract
Novel microRNA candidates and miRNA-mRNA pairs in embryonic stem (ES) cells., Gu, Peili, Reid Jeffrey G., Gao Xiaolian, Shaw Chad A., Creighton Chad, Tran Peter L., Zhou Xiaochuan, Drabek Rafal B., Steffen David L., Hoang David M., et al. , PloS one, 2008, Volume 3, Issue 7, p.e2548, (2008) Abstract
NR2F1 mutations cause optic atrophy with intellectual disability., Bosch, Daniëlle G. M., Boonstra Nienke F., Gonzaga-Jauregui Claudia, Xu Mafei, de Ligt Joep, Jhangiani Shalini, Wiszniewski Wojciech, Muzny Donna M., Yntema Helger G., Pfundt Rolph, et al. , American journal of human genetics, 2014 Feb 6, Volume 94, Issue 2, p.303-9, (2014) Abstract
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders., Schaaf, Christian P., Sabo Aniko, Sakai Yasunari, Crosby Jacy, Muzny Donna, Hawes Alicia, Lewis Lora, Akbar Humeira, Varghese Robin, Boerwinkle Eric, et al. , Human molecular genetics, 2011 Sep 1, Volume 20, Issue 17, p.3366-75, (2011) Abstract
On the genetic architecture of cortical folding and brain volume in primates., Rogers, Jeffrey, Kochunov Peter, Zilles Karl, Shelledy Wendy, Lancaster Jack, Thompson Paul, Duggirala Ravindranath, Blangero John, Fox Peter T., and Glahn David C. , NeuroImage, 2010 Nov 15, Volume 53, Issue 3, p.1103-8, (2010) Abstract
Onset of atonal expression in Drosophila retinal progenitors involves redundant and synergistic contributions of Ey/Pax6 and So binding sites within two distant enhancers., Zhou, Qingxiang, Zhang Tianyi, Jemc Jennifer C., Chen Yiyun, Chen Rui, Rebay Ilaria, and Pignoni Francesca , Developmental biology, 2014 Feb 1, Volume 386, Issue 1, p.152-64, (2014) Abstract
Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes., Biankin, Andrew V., Waddell Nicola, Kassahn Karin S., Gingras Marie-Claude, Muthuswamy Lakshmi B., Johns Amber L., Miller David K., Wilson Peter J., Patch Ann-Marie, Wu Jianmin, et al. , Nature, 2012 Nov 15, Volume 491, Issue 7424, p.399-405, (2012) Abstract
Paradoxical DNA repair and peroxide resistance gene conservation in Bacillus pumilus SAFR-032., Gioia, Jason, Yerrapragada Shailaja, Qin Xiang, Jiang Huaiyang, Igboeli Okezie C., Muzny Donna, Dugan-Rocha Shannon, Ding Yan, Hawes Alicia, Liu Wen, et al. , PloS one, 2007, Volume 2, Issue 9, p.e928, (2007) Abstract
Paradoxical DNA repair and peroxide resistance gene conservation in Bacillus pumilus SAFR-032., Gioia, Jason, Yerrapragada Shailaja, Qin Xiang, Jiang Huaiyang, Igboeli Okezie C., Muzny Donna, Dugan-Rocha Shannon, Ding Yan, Hawes Alicia, Liu Wen, et al. , PloS one, 2007, Volume 2, Issue 9, p.e928, (2007) Abstract
Patterns and rates of exonic de novo mutations in autism spectrum disorders., Neale, Benjamin M., Kou Yan, Liu Li, Ma'ayan Avi, Samocha Kaitlin E., Sabo Aniko, Lin Chiao-Feng, Stevens Christine, Wang Li-San, Makarov Vladimir, et al. , Nature, 2012 May 10, Volume 485, Issue 7397, p.242-5, (2012) Abstract
PDX-1 is a therapeutic target for pancreatic cancer, insulinoma and islet neoplasia using a novel RNA interference platform., Liu, Shi-He, Rao Donald D., Nemunaitis John, Senzer Neil, Zhou Guisheng, Dawson David, Gingras Marie-Claude, Wang Zhaohui, Gibbs Richard, Norman Michael, et al. , PloS one, 2012, Volume 7, Issue 8, p.e40452, (2012) Abstract
PDX-1: demonstration of oncogenic properties in pancreatic cancer., Liu, Shi-He, Patel Sanjeet, Gingras Marie-Claude, Nemunaitis John, Zhou Guisheng, Chen Changyi, Li Min, Fisher William, Gibbs Richard, and Brunicardi Charles F. , Cancer, 2011 Feb 15, Volume 117, Issue 4, p.723-33, (2011) Abstract


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