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PDX-1 acts as a potential molecular target for treatment of human pancreatic cancer., Liu, Shihe, Ballian Nikiforos, Belaguli Narasimhaswamy S., Patel Sanjeet, Li Min, Templeton Nancy Smyth, Gingras Marie-Claude, Gibbs Richard, Fisher William, and Brunicardi Charles F. , Pancreas, 2008 Aug, Volume 37, Issue 2, p.210-20, (2008) Abstract
PCR test for cystic fibrosis deletion., Ballabio, A., Gibbs R. A., and Caskey C. T. , Nature, 1990 Jan 18, Volume 343, Issue 6255, p.220, (1990)
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
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
PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations., Wang, Min, Beck Christine R., English Adam C., Meng Qingchang, Buhay Christian, Han Yi, Doddapaneni Harsha V., Yu Fuli, Boerwinkle Eric, Lupski James R., et al. , BMC genomics, 2015, Volume 16, Issue 1, p.214, (2015) Abstract
P-selectin Thr715Pro polymorphism predicts P-selectin levels but not risk of incident coronary heart disease or ischemic stroke in a cohort of 14595 participants: the Atherosclerosis Risk in Communities Study., Volcik, Kelly A., Ballantyne Christie M., Coresh Josef, Folsom Aaron R., Wu Kenneth K., and Boerwinkle Eric , Atherosclerosis, 2006 May, Volume 186, Issue 1, p.74-9, (2006) Abstract
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Oncodevelopmental and hormonal regulation of alpha 1-fetoprotein gene expression., Belanger, L., Baril P., Guertin M., Gingras M. C., Gourdeau H., Anderson A., Hamel D., and Boucher J. M. , Advances in enzyme regulation, 1983, Volume 21, p.73-99, (1983) 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
OikoBase: a genomics and developmental transcriptomics resource for the urochordate Oikopleura dioica., Danks, Gemma, Campsteijn Coen, Parida Mrutyunjaya, Butcher Stephen, Doddapaneni Harsha, Fu Bolei, Petrin Raul, Metpally Raghu, Lenhard Boris, Wincker Patrick, et al. , Nucleic acids research, 2013 Jan, Volume 41, Issue Database issue, p.D845-53, (2013) 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 genetic causes for cerebral visual impairment., Bosch, Daniëlle G. M., Boonstra Nienke F., de Leeuw Nicole, Pfundt Rolph, Nillesen Willy M., de Ligt Joep, Gilissen Christian, Jhangiani Shalini, Lupski James R., Cremers Frans P. M., et al. , European journal of human genetics : EJHG, 2015 Sep 9, (2015) 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
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome., Yuan, Bo, Harel Tamar, Gu Shen, Liu Pengfei, Burglen Lydie, Chantot-Bastaraud Sandra, Gelowani Violet, Beck Christine R., Carvalho Claudia M. B., Cheung Sau Wai, et al. , American journal of human genetics, 2015 Nov 5, Volume 97, Issue 5, p.691-707, (2015) 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 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)
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


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