Novel Cell-Penetrating Peptides Derived From Scaffold-Attachment- Factor A Inhibits Cancer Cell Proliferation and Survival by Pavan Kumar Puvvula, Anne M. Moon, Anne M. Moon, Anne M. Moon

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A comparative study of single nucleotide variant detection performance using three massively parallel sequencing methods. by Linea Christine Trudsø, Jeppe Dyrberg Andersen, Stine Bøttcher Jacobsen, Sofie Lindgren Christiansen, Clàudia Congost-Teixidor, Marie-Louise Kampmann, Niels Morling

“…Massively parallel sequencing (MPS) has revolutionised clinical genetics and research within human genetics by enabling the detection of variants in multiple genes in several samples at the same time. …”
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Cryo-EM structures of the eukaryotic replicative helicase bound to a translocation substrate by Ferdos Abid Ali, Ludovic Renault, Julian Gannon, Hailey L. Gahlon, Abhay Kotecha, Jin Chuan Zhou, David Rueda, Alessandro Costa

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The Emerging Physiological Role of AGMO 10 Years after Its Gene Identification by Sabrina Sailer, Markus A. Keller, Ernst R. Werner, Katrin Watschinger

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<it>"PolyMin"</it>: software for identification of the minimum number of polymorphisms required for haplotype and genotype differentiation by Lübberstedt Thomas, Wollenweber Bernd, Frei Ursula K

“…To date, software for identification of the minimum number of required markers has been optimized for human genetics and is only partly matching the needs of plant scientists and breeders. …”
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A natural history study of fibrodysplasia ossificans progressiva (FOP): 12-month outcome results by Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim Hanh Le Quan Sang, Andrew Strahs, Rose Marino, Frederick S. Kaplan

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CRISPR Del/Rei: a simple, flexible, and efficient pipeline for scarless genome editing by Kyra L. Feuer, Marah H. Wahbeh, Christian Yovo, Eman Rabie, Anh-Thu N. Lam, Sara Abdollahi, Lindsay J. Young, Bailey Rike, Akul Umamageswaran, Dimitrios Avramopoulos

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New medications development for smoking cessation by Dana Lengel, Paul J. Kenny

“…In parallel, large-scale human genetics studies have revealed allelic variants that influence vulnerability to tobacco use disorder. …”
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Paediatric nonbronchoscopic bronchoalveolar lavage overview and recommendations for clinical practice by B. M. Morrow, M. J. Futter, A. C. Argent

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Introduction to molecular genetic diagnostics by Novaković Ivana, Maksimović Nela, Pavlović Aleksandra, Žarković Milena, Rovčanin Branislav, Mirković Duško, Pekmezović Tatjana, Cvetković Dragana

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The genetics of human hematopoiesis and its disruption in disease by Erik L Bao, Aaron N Cheng, Vijay G Sankaran

“…This review explores how human genetics have illuminated our understanding of hematopoiesis in health and disease. …”
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A Review on the Role of Non-Coding RNAs in the Pathogenesis of Myasthenia Gravis by Soudeh Ghafouri-Fard, Tahereh Azimi, Bashdar Mahmud Hussen, Mohammad Taheri, Reza Jalili Khoshnoud

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Identification of transcription factor binding sites using ATAC-seq by Zhijian Li, Marcel H. Schulz, Thomas Look, Matthias Begemann, Martin Zenke, Ivan G. Costa

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Telomere oxidation status (TOS) is correlated with relative telomere length (RTL) across different mouse tissues but not with nicotinamide nucleotide transhydrogenase (Nnt) status by Kidd, Elliot, Meimaridou, Eirini, Walley, Andrew, Fairbrother, Una

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Genetic insights into biological mechanisms governing human ovarian ageing by Ruth, KS, Day, FR, Hussain, J, Walters, R, Lin, K, Kartsonaki, C, Hunter, D, Chen, Z, Perry, JRB, et al

“…Furthermore, we demonstrate that experimental manipulation of DDR pathways highlighted by human genetics increases fertility and extends reproductive life in mice. …”

Studying gene and gene-environment effects of uncommon and common variants on continuous traits: A marker-set approach using gene-trait similarity regression by Tzeng, J, Zhang, D, Pongpanich, M, Smith, C, McCarthy, M, Sale, M, Worrall, B, Hsu, F, Thomas, D, Sullivan, P

“…. © 2011 The American Society of Human Genetics.…”

Untargeted metabolome quantitative trait locus mapping associates variation in urine glycerate to mutant glycerate kinase by Cazier, J, Kaisaki, P, Argoud, K, Blaise, B, Veselkov, K, Ebbels, T, Tsang, T, Wang, Y, Bihoreau, M, Mitchell, S, Holmes, E, Lindon, J, Scott, J, Nicholson, J, Dumas, M, Gauguier, D

“…These results provide new insights into the resolution of the complex nature of metabolic regulations and novel analytical techniques that maximize the full utilization of metabolomic spectra in human genetics to discover mappable disease-associated biomarkers. © 2011 American Chemical Society.…”

Spinocerebellar ataxia type 7 in South Africa: epidemiology, pathogenesis and therapy by Watson, L, Smith, D, Scholefield, J, Ballo, R, Kidson, S, Greenberg, L, Wood, M

“…The Department (now Division) of Human Genetics at the University of Cape Town (UCT) has been involved in pioneering research into these diseases since the appointment of Prof. …”

Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity by Lopez-Herrera, G, Tampella, G, Pan-Hammarström, Q, Herholz, P, Trujillo-Vargas, C, Phadwal, K, Simon, A, Moutschen, M, Etzioni, A, Mory, A, Srugo, I, Melamed, D, Hultenby, K, Liu, C, Baronio, M, Vitali, M, Philippet, P, Dideberg, V, Aghamohammadi, A, Rezaei, N, Enright, V, Du, L, Salzer, U, Eibel, H, Pfeifer, D

“…. © 2012 by The American Society of Human Genetics. All rights reserved.…”

Linkage analysis of extremely discordant and concordant sibling pairs identifies quantitative-trait loci that influence variation in the human personality trait neuroticism by Fullerton, J, Cubin, M, Tiwari, H, Wang, C, Bomhra, A, Davidson, S, Miller, S, Fairburn, C, Goodwin, G, Neale, M, Fiddy, S, Mott, R, Allison, D, Flint, J