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Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Familial Congenital Heart Disease
Blue, Gillian M., Kirk, Edwin P., Giannoulatou, Eleni, Dunwoodie, Sally L., Ho, Joshua W.K., Hilton, Desiree C.K., White, Susan M., Sholler, Gary F., Harvey, Richard P., Winlaw, David S.
Published in Journal of the American College of Cardiology (16.12.2014)
Published in Journal of the American College of Cardiology (16.12.2014)
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Mycobacterial RNase E cleaves with a distinct sequence preference and controls the degradation rates of most Mycolicibacterium smegmatis mRNAs
Zhou, Ying, Sun, Huaming, Rapiejko, Abigail R., Vargas-Blanco, Diego A., Martini, Maria Carla, Chase, Michael R., Joubran, Samantha R., Davis, Alexa B., Dainis, Joseph P., Kelly, Jessica M., Ioerger, Thomas R., Roberts, Louis A., Fortune, Sarah M., Shell, Scarlet S.
Published in The Journal of biological chemistry (01.11.2023)
Published in The Journal of biological chemistry (01.11.2023)
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Radiation effects on human heredity
Nakamura, Nori, Suyama, Akihiko, Noda, Asao, Kodama, Yoshiaki
Published in Annual review of genetics (01.01.2013)
Published in Annual review of genetics (01.01.2013)
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A de novo variant in the X‐linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient
Polla, Daniel L., Saunders, Harriet R., Vries, Bert B. A., Bokhoven, Hans, Brouwer, Arjan P. M.
Published in Molecular genetics & genomic medicine (01.10.2019)
Published in Molecular genetics & genomic medicine (01.10.2019)
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5q11.2 deletion syndrome revisited—Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome
Bayat, Allan, Bayat, Michael, Broers, Chantal, Polstra, Abeltje M., Zwijnenburg, Petra J. G., Hjortshøj, Tina Duelund
Published in American journal of medical genetics. Part A (01.12.2021)
Published in American journal of medical genetics. Part A (01.12.2021)
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Involvement of the long intergenic non-coding RNA LINC00461 in schizophrenia
Rao, Shuquan, Tian, Lin, Cao, Hongbao, Baranova, Ancha, Zhang, Fuquan
Published in BMC psychiatry (26.01.2022)
Published in BMC psychiatry (26.01.2022)
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Characterization and Comparison of Two Complete Plastomes of Rosaceae Species (Potentilla dickinsii var. glabrata and Spiraea insularis) Endemic to Ulleung Island, Korea
Yang, JiYoung, Kang, Gi-Ho, Pak, Jae-Hong, Kim, Seung-Chul
Published in International journal of molecular sciences (13.07.2020)
Published in International journal of molecular sciences (13.07.2020)
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Fluctuations in chromatin state at regulatory loci occur spontaneously under relaxed selection and are associated with epigenetically inherited variation in C. elegans gene expression
Wilson, Rachel, Le Bourgeois, Maxime, Perez, Marcos, Sarkies, Peter
Published in PLoS genetics (02.03.2023)
Published in PLoS genetics (02.03.2023)
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Single-cell transcriptome analysis of fish immune cells provides insight into the evolution of vertebrate immune cell types
Carmona, Santiago J., Teichmann, Sarah A., Ferreira, Lauren, Macaulay, Iain C., Stubbington, Michael J.T., Cvejic, Ana, Gfeller, David
Published in Genome research (01.03.2017)
Published in Genome research (01.03.2017)
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Inflammation and neurological disease-related genes are differentially expressed in depressed patients with mood disorders and correlate with morphometric and functional imaging abnormalities
Savitz, Jonathan, Frank, Mark Barton, Victor, Teresa, Bebak, Melissa, Marino, Julie H., Bellgowan, Patrick S.F., McKinney, Brett A., Bodurka, Jerzy, Kent Teague, T., Drevets, Wayne C.
Published in Brain, behavior, and immunity (01.07.2013)
Published in Brain, behavior, and immunity (01.07.2013)
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Novel mitochondrial gene variants in Northwestern Chinese probands with non-syndromic hearing loss by whole mitochondrial genome screening
Chen, Xiaowan, Wang, Fang, Maerhaba, Aishanjiang, Li, Qianqian, Wang, Jianchao, Liu, Xiaowen, Zheng, Jing, Chen, Ye, Guo, YuFen
Published in Gene (30.04.2018)
Published in Gene (30.04.2018)
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Exon resequencing of H3K9 methyltransferase complex genes, EHMT1, EHTM2 and WIZ, in Japanese autism subjects
Balan, Shabeesh, Iwayama, Yoshimi, Maekawa, Motoko, Toyota, Tomoko, Ohnishi, Tetsuo, Toyoshima, Manabu, Shimamoto, Chie, Esaki, Kayoko, Yamada, Kazuo, Iwata, Yasuhide, Suzuki, Katsuaki, Ide, Masayuki, Ota, Motonori, Fukuchi, Satoshi, Tsujii, Masatsugu, Mori, Norio, Shinkai, Yoichi, Yoshikawa, Takeo
Published in Molecular autism (06.10.2014)
Published in Molecular autism (06.10.2014)
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Whole-Genome Bisulfite Sequencing of Human Pancreatic Islets Reveals Novel Differentially Methylated Regions in Type 2 Diabetes Pathogenesis
Volkov, Petr, Bacos, Karl, Ofori, Jones K., Esguerra, Jonathan Lou S., Eliasson, Lena, Rönn, Tina, Ling, Charlotte
Published in Diabetes (New York, N.Y.) (01.04.2017)
Published in Diabetes (New York, N.Y.) (01.04.2017)
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PhyloSift: phylogenetic analysis of genomes and metagenomes
Darling, Aaron E., Jospin, Guillaume, Lowe, Eric, Matsen, Frederick A., Bik, Holly M., Eisen, Jonathan A.
Published in PeerJ (San Francisco, CA) (09.01.2014)
Published in PeerJ (San Francisco, CA) (09.01.2014)
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Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry
Prakash, Siddharth K., Bondy, Carolyn A., Maslen, Cheryl L., Silberbach, Michael, Lin, Angela E., Perrone, Laura, Limongelli, Giuseppe, Michelena, Hector I., Bossone, Eduardo, Citro, Rodolfo, Lemaire, Scott A., Body, Simon C., Milewicz, Dianna M.
Published in American journal of medical genetics. Part A (01.12.2016)
Published in American journal of medical genetics. Part A (01.12.2016)
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Fine-Mapping an Association of FSHR with Preterm Birth in a Finnish Population
Chun, Sung, Plunkett, Jevon, Teramo, Kari, Muglia, Louis J., Fay, Justin C.
Published in PloS one (2013)
Published in PloS one (2013)
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Pseudo–Messenger RNA: Phantoms of the Transcriptome
Frith, Martin C, Wilming, Laurens G, Forrest, Alistair, Kawaji, Hideya, Tan, Sin Lam, Wahlestedt, Claes, Bajic, Vladimir B, Kai, Chikatoshi, Kawai, Jun, Carninci, Piero, Hayashizaki, Yoshihide, Bailey, Timothy L, Huminiecki, Lukasz
Published in PLoS genetics (01.04.2006)
Published in PLoS genetics (01.04.2006)
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NMD: a multifaceted response to premature translational termination
Kervestin, Stephanie, Jacobson, Allan
Published in Nature reviews. Molecular cell biology (01.11.2012)
Published in Nature reviews. Molecular cell biology (01.11.2012)
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Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44
Nagamani, Sandesh C Sreenath, Erez, Ayelet, Bay, Carolyn, Pettigrew, Anjana, Lalani, Seema R, Herman, Kristin, Graham, Brett H, Nowaczyk, Malgorzata JM, Proud, Monica, Craigen, William J, Hopkins, Bobbi, Kozel, Beth, Plunkett, Katie, Hixson, Patricia, Stankiewicz, Pawel, Patel, Ankita, Cheung, Sau Wai
Published in European journal of human genetics : EJHG (01.02.2012)
Published in European journal of human genetics : EJHG (01.02.2012)
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