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1-Alkyl-2-acetylglycerophosphocholine Esterase
Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks., Peloso, Gina M., Auer Paul L., Bis Joshua C., Voorman Arend, Morrison Alanna C., Stitziel Nathan O., Brody Jennifer A., Khetarpal Sumeet A., Crosby Jacy R., Fornage Myriam, et al. , American journal of human genetics, 2014 Feb 6, Volume 94, Issue 2, p.223-32, (2014) Abstract
2',5'-Oligoadenylate Synthetase
Single nucleotide polymorphisms in genes for 2'-5'-oligoadenylate synthetase and RNase L inpatients hospitalized with West Nile virus infection., Yakub, Imtiaz, Lillibridge Kristy M., Moran Ana, Gonzalez Omar Y., Belmont John, Gibbs Richard A., and Tweardy David J. , The Journal of infectious diseases, 2005 Nov 15, Volume 192, Issue 10, p.1741-8, (2005) Abstract
3' Flanking Region
Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene., Twells, Rebecca C. J., Mein Charles A., Phillips Michael S., Hess Fred J., Veijola Riitta, Gilbey Matthew, Bright Matthew, Metzker Michael, Lie Benedicte A., Kingsnorth Amanda, et al. , Genome research, 2003 May, Volume 13, Issue 5, p.845-55, (2003) Abstract
5' Flanking Region
Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene., Twells, Rebecca C. J., Mein Charles A., Phillips Michael S., Hess Fred J., Veijola Riitta, Gilbey Matthew, Bright Matthew, Metzker Michael, Lie Benedicte A., Kingsnorth Amanda, et al. , Genome research, 2003 May, Volume 13, Issue 5, p.845-55, (2003) Abstract
5' Untranslated Regions
The DNA sequence and analysis of human chromosome 14., Heilig, Roland, Eckenberg Ralph, Petit Jean-Louis, Fonknechten Núria, Da Silva Corinne, Cattolico Laurence, Levy Michaël, Barbe Valérie, de Berardinis Véronique, Ureta-Vidal Abel, et al. , Nature, 2003 Feb 6, Volume 421, Issue 6923, p.601-7, (2003) Abstract
Abnormalities, Multiple
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
Mutations in KCTD1 cause scalp-ear-nipple syndrome., Marneros, Alexander G., Beck Anita E., Turner Emily H., McMillin Margaret J., Edwards Matthew J., Field Michael, de Macena Sobreira Nara Lygia, Perez Ana Beatriz A., Fortes Jose A. R., Lampe Anne K., et al. , American journal of human genetics, 2013 Apr 4, Volume 92, Issue 4, p.621-6, (2013) 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
ABO Blood-Group System
Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels., Barbalic, Maja, Dupuis Josée, Dehghan Abbas, Bis Joshua C., Hoogeveen Ron C., Schnabel Renate B., Nambi Vijay, Bretler Monique, Smith Nicholas L., Peters Annette, et al. , Human molecular genetics, 2010 May 1, Volume 19, Issue 9, p.1863-72, (2010) Abstract
Access to Information
Prepublication data sharing., Birney, Ewan, Hudson Thomas J., Green Eric D., Gunter Chris, Eddy Sean, Rogers Jane, Harris Jennifer R., Ehrlich Dusko S., Apweiler Rolf, Austin Christopher P., et al. , Nature, 2009 Sep 10, Volume 461, Issue 7261, p.168-70, (2009) 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
Adaptor Proteins, Signal Transducing
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies., Khanna, Hemant, Davis Erica E., Murga-Zamalloa Carlos A., Estrada-Cuzcano Alejandro, Lopez Irma, den Hollander Anneke I., Zonneveld Marijke N., Othman Mohammad I., Waseem Naushin, Chakarova Christina F., et al. , Nature genetics, 2009 Jun, Volume 41, Issue 6, p.739-45, (2009) Abstract
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum., Davis, Erica E., Zhang Qi, Liu Qin, Diplas Bill H., Davey Lisa M., Hartley Jane, Stoetzel Corinne, Szymanska Katarzyna, Ramaswami Gokul, Logan Clare V., et al. , Nature genetics, 2011 Mar, Volume 43, Issue 3, p.189-96, (2011) Abstract
Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiency., Wang, Linghua, Tsutsumi Shuichi, Kawaguchi Tokuichi, Nagasaki Koichi, Tatsuno Kenji, Yamamoto Shogo, Sang Fei, Sonoda Kohtaro, Sugawara Minoru, Saiura Akio, et al. , Genome research, 2012 Feb, Volume 22, Issue 2, p.208-19, (2012) Abstract
Adenine Nucleotides
Porin interaction with hexokinase and glycerol kinase: metabolic microcompartmentation at the outer mitochondrial membrane., Adams, V., Griffin L., Towbin J., Gelb B., Worley K., and McCabe E. R. , Biochemical medicine and metabolic biology, 1991 Jun, Volume 45, Issue 3, p.271-91, (1991) Abstract
Characterizing the cancer genome in lung adenocarcinoma., Weir, Barbara A., Woo Michele S., Getz Gad, Perner Sven, Ding Li, Beroukhim Rameen, Lin William M., Province Michael A., Kraja Aldi, Johnson Laura A., et al. , Nature, 2007 Dec 6, Volume 450, Issue 7171, p.893-8, (2007) Abstract
Adenocarcinoma, Bronchiolo-Alveolar
Somatic mutations affect key pathways in lung adenocarcinoma., Ding, Li, Getz Gad, Wheeler David A., Mardis Elaine R., McLellan Michael D., Cibulskis Kristian, Sougnez Carrie, Greulich Heidi, Muzny Donna M., Morgan Margaret B., et al. , Nature, 2008 Oct 23, Volume 455, Issue 7216, p.1069-75, (2008) Abstract
Adenosine Triphosphate
An allylic/acyclic adenosine nucleoside triphosphate for termination of DNA synthesis by DNA template-dependent polymerases., Martinez, C. I., Thoresen L. H., Gibbs R. A., and Burgess K. , Nucleic acids research, 1999 Mar 1, Volume 27, Issue 5, p.1271-4, (1999) Abstract
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model., McIntyre, Jeremy C., Davis Erica E., Joiner Ariell, Williams Corey L., Tsai I-Chun, Jenkins Paul M., McEwen Dyke P., Zhang Lian, Escobado John, Thomas Sophie, et al. , Nature medicine, 2012 Sep, Volume 18, Issue 9, p.1423-8, (2012) Abstract
Identification of a QTL for adipocyte volume and of shared genetic effects with aspartate aminotransferase., Bose, Tanushree, Voruganti Saroja V., Tejero Elizabeth M., Proffit Michael J., Cox Laura A., VandeBerg John L., Mahaney Michael C., Rogers Jeffrey, Freeland-Graves Jeanne H., Cole Shelley A., et al. , Biochemical genetics, 2010 Jun, Volume 48, Issue 5-6, p.538-47, (2010) 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
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
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
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

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