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PBHoney: identifying genomic variants via long-read discordance and interrupted mapping., English, Adam C., Salerno William J., and Reid Jeffrey G. , BMC bioinformatics, 2014, Volume 15, p.180, (2014) 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
Parental history of stroke and myocardial infarction predicts coronary artery calcification: The Coronary Artery Risk Development in Young Adults (CARDIA) study., Fornage, Myriam, Lopez David S., Roseman Jeffrey M., Siscovick David S., Wong Nathan D., and Boerwinkle Eric , European journal of cardiovascular prevention and rehabilitation : official journal of the European Society of Cardiology, Working Groups on Epidemiology & Prevention and Cardiac Rehabilitation and Exercise Physiology, 2004 Oct, Volume 11, Issue 5, p.421-6, (2004) Abstract
Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics., Campbell, Ian M., Stewart Jonathan R., James Regis A., Lupski James R., Stankiewicz Paweł, Olofsson Peter, and Shaw Chad A. , American journal of human genetics, 2014 Oct 2, Volume 95, Issue 4, p.345-59, (2014) 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
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
P450ome of the white rot fungus Phanerochaete chrysosporium: structure, evolution and regulation of expression of genomic P450 clusters., Yadav, J. S., Doddapaneni H., and Subramanian V. , Biochemical Society transactions, 2006 Dec, Volume 34, Issue Pt 6, p.1165-9, (2006) Abstract
P450 redox enzymes in the white rot fungus Phanerochaete chrysosporium: gene transcription, heterologous expression, and activity analysis on the purified proteins., Subramanian, Venkataramanan, Doddapaneni Harshavardhan, Syed Khajamohiddin, and Yadav Jagjit S. , Current microbiology, 2010 Oct, Volume 61, Issue 4, p.306-14, (2010) Abstract
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An overview of industrial accidents with particular reference to facial trauma., Shalhoub, S. Y. , Australian dental journal, 1991 Dec, Volume 36, Issue 6, p.445-50, (1991) 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
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
Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients., Scollon, Sarah, Bergstrom Katie, Kerstein Robin A., Wang Tao, Hilsenbeck Susan G., Ramamurthy Uma, Gibbs Richard A., Eng Christine M., Chintagumpala Murali M., Berg Stacey L., et al. , Genome medicine, 2014, Volume 6, Issue 9, p.69, (2014) Abstract
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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
Novel somatic and germline mutations in intracranial germ cell tumours., Wang, Linghua, Yamaguchi Shigeru, Burstein Matthew D., Terashima Keita, Chang Kyle, Ng Ho-Keung, Nakamura Hideo, He Zongxiao, Doddapaneni Harshavardhan, Lewis Lora, et al. , Nature, 2014 Jun 4, (2014) 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
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
No evidence for genome-wide interactions on plasma fibrinogen by smoking, alcohol consumption and body mass index: results from meta-analyses of 80,607 subjects., Baumert, Jens, Huang Jie, McKnight Barbara, Sabater-Lleal Maria, Steri Maristella, Chu Audrey Y., Trompet Stella, Lopez Lorna M., Fornage Myriam, Teumer Alexander, et al. , PloS one, 2014, Volume 9, Issue 12, p.e111156, (2014) 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
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
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 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 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
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)


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