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Abstract 14413: Whole Genome Sequencing in Idiopathic and Familial Pulmonary Arterial Hypertension Reveals Causal Rare Coding and Non-coding Sequence Variation
Gräf, Stefan, Bleda, Marta, Haddinapola, Charaka, Haimel, Matthias, Bogaard, Harm J, Coglan, Gerry, Corris, Paul A, Gibbs, J. S, Humbert, Marc, Kiely, David G, Laurie, Allan, Machado, Rajiv D, Peacock, Andrew J, Pepke-Zaba, Joanna, Toshner, Mark, Trembath, Richard C, Vonk Noordegraaf, Anton, Wharton, John, Wilkins, Martin, Wort, Stephen J, Morrell, Nicholas W
Published in Circulation (New York, N.Y.) (11.11.2016)
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Published in Circulation (New York, N.Y.) (11.11.2016)
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Whole genome sequencing analysis of four patients: Are de novo copy number variations in non-coding region responsible for microtia with lung hypoplasia?
Huang, Xin, Jia, Yang, Yang, Yang, Qu, Jianwen, Pan, Bo
Published in International journal of pediatric otorhinolaryngology (01.08.2023)
Published in International journal of pediatric otorhinolaryngology (01.08.2023)
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Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics
Gussow, Ayal B., Copeland, Brett R., Dhindsa, Ryan S., Wang, Quanli, Petrovski, Slavé, Majoros, William H., Allen, Andrew S., Goldstein, David B.
Published in PloS one (10.08.2017)
Published in PloS one (10.08.2017)
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Dynamics and epigenetic signature of regulatory T-cells following antiretroviral therapy initiation in acute HIV infection
Yero, Alexis, Shi, Tao, Farnos, Omar, Routy, Jean-Pierre, Tremblay, Cécile, Durand, Madeleine, Tsoukas, Christos, Costiniuk, Cecilia T., Jenabian, Mohammad-Ali
Published in EBioMedicine (01.09.2021)
Published in EBioMedicine (01.09.2021)
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Single-molecule long-read transcriptome profiling of Platysternon megacephalum mitochondrial genome with gene rearrangement and control region duplication
Liu, Jianjun, Jiang, Hui, Zan, Jiawei, Bao, Yuantian, Dong, Jinxiu, Xiong, Lei, Nie, Liuwang
Published in RNA biology (02.09.2018)
Published in RNA biology (02.09.2018)
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Origin and evolution of the cystic fibrosis transmembrane regulator protein R domain
Sebastian, Aswathy, Rishishwar, Lavanya, Wang, Jianrong, Bernard, Karen F., Conley, Andrew B., McCarty, Nael A., Jordan, I. King
Published in Gene (10.07.2013)
Published in Gene (10.07.2013)
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DNA sequence analysis of GJB2, encoding connexin 26: Observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls
Tang, Hsiao-Yuan, Fang, Ping, Ward, Patricia A., Schmitt, Eric, Darilek, Sandra, Manolidis, Spiros, Oghalai, John S., Roa, Benjamin B., Alford, Raye Lynn
Published in American journal of medical genetics. Part A (15.11.2006)
Published in American journal of medical genetics. Part A (15.11.2006)
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Molecular characterization of familial hypercholesterolemia in Spain: Identification of 39 novel and 77 recurrent mutations in LDLR
Mozas, Pilar, Castillo, Sergio, Tejedor, Diego, Reyes, Gilberto, Alonso, Rodrigo, Franco, Miguel, Saenz, Pedro, Fuentes, Francisco, Almagro, Fátima, Mata, Pedro, Pocoví, Miguel
Published in Human mutation (01.08.2004)
Published in Human mutation (01.08.2004)
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Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss
Houseman, Mark J, Ellis, Lucy A, Pagnamenta, Alistair, Di, Wei-Li, Rickard, Sarah, Osborn, Amelia H, Dahl, Hans-Henrik M, Taylor, Graham R, Bitner-Glindzicz, Maria, Reardon, William, Mueller, Robert F, Kelsell, David P
Published in Journal of medical genetics (01.01.2001)
Published in Journal of medical genetics (01.01.2001)
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Human intronic enhancers control distinct sub-domains of Gli3 expression during mouse CNS and limb development
Abbasi, Amir A, Paparidis, Zissis, Malik, Sajid, Bangs, Fiona, Schmidt, Ansgar, Koch, Sabine, Lopez-Rios, Javier, Grzeschik, Karl-Heinz
Published in BMC developmental biology (28.04.2010)
Published in BMC developmental biology (28.04.2010)
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Systematic discovery of regulatory motifs in human promoters and 3′ UTRs by comparison of several mammals
Xie, Xiaohui, Lu, Jun, Kulbokas, E. J., Golub, Todd R., Mootha, Vamsi, Lindblad-Toh, Kerstin, Lander, Eric S., Kellis, Manolis
Published in Nature (London) (17.03.2005)
Published in Nature (London) (17.03.2005)
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The PBII gene of the human salivary proline-rich protein P-B produces another protein, Q504X8, with an opiorphin homolog, QRGPR
Saitoh, Eiichi, Sega, Takuya, Imai, Akane, Isemura, Satoko, Kato, Tetsuo, Ochiai, Akihito, Taniguchi, Masayuki
Published in Archives of oral biology (01.04.2018)
Published in Archives of oral biology (01.04.2018)
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Long Noncoding RNA in Prostate, Bladder, and Kidney Cancer
Martens-Uzunova, Elena S., Böttcher, René, Croce, Carlo M., Jenster, Guido, Visakorpi, Tapio, Calin, George A.
Published in European urology (01.06.2014)
Published in European urology (01.06.2014)
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Transcriptome analysis shows activation of circulating CD8 + T cells in patients with severe asthma
Tsitsiou, Eleni, Williams, Andrew E., Moschos, Sterghios A., Patel, Ketan, Rossios, Christos, Jiang, Xiaoying, Adams, Oona-Delpuech, Macedo, Patricia, Booton, Richard, Gibeon, David, Chung, Kian Fan, Lindsay, Mark A.
Published in Journal of allergy and clinical immunology (01.01.2012)
Published in Journal of allergy and clinical immunology (01.01.2012)
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Role of Noncoding RNA ANRIL in Genesis of Plexiform Neurofibromas in Neurofibromatosis Type 1
Pasmant, Eric, Sabbagh, Audrey, Masliah-Planchon, Julien, Ortonne, Nicolas, Laurendeau, Ingrid, Melin, Lucie, Ferkal, Salah, Hernandez, Lucie, Leroy, Karen, Valeyrie-Allanore, Laurence, Parfait, Béatrice, Vidaud, Dominique, Bièche, Ivan, Lantieri, Laurent, Wolkenstein, Pierre, Vidaud, Michel
Published in JNCI : Journal of the National Cancer Institute (16.11.2011)
Published in JNCI : Journal of the National Cancer Institute (16.11.2011)
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Human carboxypeptidase E. Isolation and characterization of the cDNA, sequence conservation, expression and processing in vitro
Manser, E, Fernandez, D, Loo, L, Goh, P Y, Monfries, C, Hall, C, Lim, L
Published in Biochemical journal (15.04.1990)
Published in Biochemical journal (15.04.1990)
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