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Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome., Bayram, Yavuz, Pehlivan Davut, Karaca Ender, Gambin Tomasz, Jhangiani Shalini N., Erdin Serkan, Gonzaga-Jauregui Claudia, Wiszniewski Wojciech, Muzny Donna, Elcioglu Nursel H., et al. , American journal of medical genetics. Part A, 2014 Sep, Volume 164A, Issue 9, p.2328-34, (2014) Abstract
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation., Lalani, Seema R., Safiullah Arsalan M., Fernbach Susan D., Harutyunyan Karine G., Thaller Christina, Peterson Leif E., McPherson John D., Gibbs Richard A., White Lisa D., Hefner Margaret, et al. , American journal of human genetics, 2006 Feb, Volume 78, Issue 2, p.303-14, (2006) Abstract
Identification of prognosis markers in pediatric high-risk acute lymphoblastic leukemia., Al-Lamki, Zakia, Wali Yasser A., Wasifuddin Shah M., Zachariah Mathew, Al-Mjeni Rayhanah, Li Changping, Muralitharan Shanmugakonar, Al-Kharusi Khalsa, Gunaratne Preethi, Peterson Leif, et al. , Pediatric hematology and oncology, 2005 Oct-Nov, Volume 22, Issue 7, p.629-43, (2005) Abstract
The genetic basis of DOORS syndrome: an exome-sequencing study., Campeau, Philippe M., Kasperaviciute Dalia, Lu James T., Burrage Lindsay C., Kim Choel, Hori Mutsuki, Powell Berkley R., Stewart Fiona, Félix Têmis Maria, van den Ende Jenneke, et al. , Lancet neurology, 2014 Jan, Volume 13, Issue 1, p.44-58, (2014) Abstract
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype., Perrault, Isabelle, Estrada-Cuzcano Alejandro, Lopez Irma, Kohl Susanne, Li Shiqiang, Testa Francesco, Zekveld-Vroon Renate, Wang Xia, Pomares Esther, Andorf Jean, et al. , PloS one, 2013, Volume 8, Issue 1, p.e51622, (2013) Abstract
Whole-genome sequencing for optimized patient management., Bainbridge, Matthew N., Wiszniewski Wojciech, Murdock David R., Friedman Jennifer, Gonzaga-Jauregui Claudia, Newsham Irene, Reid Jeffrey G., Fink John K., Morgan Margaret B., Gingras Marie-Claude, et al. , Science translational medicine, 2011 Jun 15, Volume 3, Issue 87, p.87re3, (2011) 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
Evolution of human immunodeficiency virus type 1 nucleotide sequence diversity among close contacts., Burger, H., Weiser B., Flaherty K., Gulla J., Nguyen P. N., and Gibbs R. A. , Proceedings of the National Academy of Sciences of the United States of America, 1991 Dec 15, Volume 88, Issue 24, p.11236-40, (1991) Abstract
Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura., Lotta, Luca A., Wu Haifeng M., Mackie Ian J., Noris Marina, Veyradier Agnes, Scully Marie A., Remuzzi Giuseppe, Coppo Paul, Liesner Ri, Donadelli Roberta, et al. , Blood, 2012 Jul 12, Volume 120, Issue 2, p.440-8, (2012) 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
Longitudinal analysis of haplotypes and polymorphisms of the APOA5 and APOC3 genes associated with variation in serum triglyceride levels: the Bogalusa Heart Study., Hallman, Michael D., Srinivasan Sathanur R., Chen Wei, Boerwinkle Eric, and Berenson Gerald S. , Metabolism: clinical and experimental, 2006 Dec, Volume 55, Issue 12, p.1574-81, (2006) Abstract
Levodopa-responsive aromatic L-amino acid decarboxylase deficiency., Chang, Yuh Terng, Sharma Radhakant, Marsh Lawrence J., McPherson John D., Bedell Joey A., Knust Andreas, Bräutigam Christa, Hoffmann Georg F., and Hyland Keith , Annals of neurology, 2004 Mar, Volume 55, Issue 3, p.435-8, (2004) Abstract
Subtle genetic changes enhance virulence of methicillin resistant and sensitive Staphylococcus aureus., Highlander, Sarah K., Hultén Kristina G., Qin Xiang, Jiang Huaiyang, Yerrapragada Shailaja, Mason Edward O., Shang Yue, Williams Tiffany M., Fortunov Régine M., Liu Yamei, et al. , BMC microbiology, 2007, Volume 7, p.99, (2007) Abstract
Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25., Hasham, Sumera N., Willing Marcia C., Guo Dong-Chuan, Muilenburg Ann, He Rumin, Tran Van T., Scherer Steven E., Shete Sanjay S., and Milewicz Dianna M. , Circulation, 2003 Jul 1, Volume 107, Issue 25, p.3184-90, (2003) Abstract
Regional association-based fine-mapping for sodium-lithium countertransport on chromosome 10., Morrison, Alanna C., Boerwinkle Eric, Turner Stephen T., and Ferrell Robert E. , American journal of hypertension, 2008 Jan, Volume 21, Issue 1, p.117-21, (2008) Abstract
Genetic linkage and imprinting effects on body mass index in children and young adults., Gorlova, Olga Y., Amos Christopher I., Wang Nancy W., Shete Sanjay, Turner Stephen T., and Boerwinkle Eric , European journal of human genetics : EJHG, 2003 Jun, Volume 11, Issue 6, p.425-32, (2003) Abstract
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort., Wang, Hui, Wang Xia, Zou Xuan, Xu Shan, Li Hui, Soens Zachry Tore, Wang Keqing, Li Yumei, Dong Fangtian, Chen Rui, et al. , Investigative ophthalmology & visual science, 2015 Jun, Volume 56, Issue 6, p.3642-55, (2015) Abstract
Global DNA methylation and risk of subclinical atherosclerosis in young adults: the Pathobiological Determinants of Atherosclerosis in Youth (PDAY) study., Bressler, Jan, Shimmin Lawrence C., Boerwinkle Eric, and Hixson James E. , Atherosclerosis, 2011 Dec, Volume 219, Issue 2, p.958-62, (2011) Abstract
Collaborative Social and Medical Service System., Petermann, C. A., Bobroff R. B., Moore D. M., Gilson H. S., Li Y., Dargahi R., Classen D. W., Fowler J., Moreau D. R., and Beck J. R. , Proceedings / the ... Annual Symposium on Computer Application [sic] in Medical Care. Symposium on Computer Applications in Medical Care, 1994, p.614-8, (1994) 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
Deep resequencing and association analysis of schizophrenia candidate genes., Crowley, J. J., Hilliard C. E., Kim Y., Morgan M. B., Lewis L. R., Muzny D. M., Hawes A. C., Sabo A., Wheeler D. A., Lieberman J. A., et al. , Molecular psychiatry, 2013 Feb, Volume 18, Issue 2, p.138-40, (2013)
Common INSIG2 polymorphisms are associated with age-related changes in body size and high-density lipoprotein cholesterol from young adulthood to middle age., Fornage, Myriam, Papanicolaou George, Lewis Cora E., Boerwinkle Eric, and Siscovick David S. , Metabolism: clinical and experimental, 2010 Aug, Volume 59, Issue 8, p.1084-91, (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
Sequence variation in the soluble epoxide hydrolase gene and subclinical coronary atherosclerosis: interaction with cigarette smoking., Wei, Qi, Doris Peter A., Pollizotto Martin V., Boerwinkle Eric, Jacobs David R., Siscovick David S., and Fornage Myriam , Atherosclerosis, 2007 Jan, Volume 190, Issue 1, p.26-34, (2007) Abstract
APOA5 polymorphisms influence plasma triglycerides in young, healthy African Americans and whites of the CARDIA Study., Klos, Kathy L. E., Hamon Sara, Clark Andrew G., Boerwinkle Eric, Liu Kiang, and Sing Charles F. , Journal of lipid research, 2005 Mar, Volume 46, Issue 3, p.564-71, (2005) Abstract

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