Browsing HMS Scholarly Articles by Keyword "clinical genetics"

Now showing items 1-6 of 6

    • Clustering Heart Rate Dynamics Is Associated with β-Adrenergic Receptor Polymorphisms: Analysis by Information-Based Similarity Index 

      Yang, Albert C.; Tsai, Shih-Jen; Hong, Chen-Jee; Wang, Cynthia; Chen, Tai-Jui; Liou, Ying-Jay; Gaetano, Carlo; Peng, Chung-Kang (Public Library of Science, 2011)
      Background: Genetic polymorphisms in the gene encoding the β-adrenergic receptors (β -AR) have a pivotal role in the functions of the autonomic nervous system. Using heart rate variability (HRV) as an indicator of autonomic ...

    • Improving Case Definition of Crohnʼs Disease and Ulcerative Colitis in Electronic Medical Records Using Natural Language Processing 

      Ananthakrishnan, Ashwin; Cai, Tianxi; Savova, Guergana; Cheng, Su-Chun; Chen, Pei; Guzman, Raul; Gainer, Vivian S.; Murphy, Shawn; Szolovits, Peter; Xia, Zongqi; Shaw, Stanley; Churchill, Susanne; Karlson, Elizabeth; Kohane, Isaac; Plenge, Robert M.; Liao, Katherine (Oxford University Press (OUP), 2013-06)
      Introduction Prior studies identifying patients with inflammatory bowel disease (IBD) utilizing administrative codes have yielded inconsistent results. Our objective was to develop a robust electronic medical record (EMR) ...

    • Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, But Not Ollier Disease or Maffucci Syndrome 

      Campos-Xavier, Belinda; Superti-Furga, Andrea; Ikegawa, Shiro; Cormier-Daire, Valerie; Pansuriya, Twinkal C.; Savarirayan, Ravi; Andreucci, Elena; Vikkula, Miikka; Garavelli, Livia; Pottinger, Caroline; Ogino, Toshihiko; Sakai, Akinori; Regazzoni, Bianca M.; Wuyts, Wim; Sangiorgi, Luca; Pedrini, Elena; Bowen, Margot E.; Kurek, Kyle Christopher; Boyden, Eric David; Holm, Ingrid Adele; Bonafé, Luisa; Bovée, Judith V.; de Sousa, Sérgio b.; Zhu, Meijun; Kozakewich, Harry Peter Wolodymir; Kasser, James R.; Seidman, Jonathan G.; Warman, Matthew L. (Public Library of Science, 2011)
      Metachondromatosis (MC) is a rare, autosomal dominant, incompletely penetrant combined exostosis and enchondromatosis tumor syndrome. MC is clinically distinct from other multiple exostosis or multiple enchondromatosis ...

    • Meta-Analysis of Genome-Wide Association Studies in Celiac Disease and Rheumatoid Arthritis Identifies Fourteen Non-HLA Shared Loci 

      Zhernakova, Alexandra; Stahl, Eli A.; Trynka, Gosia; Festen, Eleanora A.; Franke, Lude; Westra, Harm-Jan; Fehrmann, Rudolf S. N.; Kurreeman, Fina A. S.; Thomson, Brian; Gupta, Namrata; Romanos, Jihane; McManus, Ross; Ryan, Anthony W.; Turner, Graham; Brouwer, Elisabeth; Posthumus, Marcel D.; Remmers, Elaine F.; Tucci, Francesca; Toes, Rene; Grandone, Elvira; Mazzilli, Maria Cristina; Rybak, Anna; Cukrowska, Bozena; Coenen, Marieke J. H.; Radstake, Timothy R. D. J.; van Riel, Piet L. C. M.; Li, Yonghong; Gregersen, Peter K.; Worthington, Jane; Siminovitch, Katherine A.; Klareskog, Lars; Huizinga, Tom W. J.; Wijmenga, Cisca; Raychaudhuri, Soumya; de Bakker, Paul I Wen; Plenge, Robert M. (Public Library of Science, 2011)
      Epidemiology and candidate gene studies indicate a shared genetic basis for celiac disease (CD) and rheumatoid arthritis (RA), but the extent of this sharing has not been systematically explored. Previous studies demonstrate ...

    • Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families 

      Velinov, Milen; Dolzhanskaya, Natalia; Gonzalez, Michael; Konidari, Ioanna; Hulme, William; Wen, Guang Y.; Barone, Rosemary; Coppel, Scott H.; Züchner, Stephan; Powell, Eric; Staropoli, John Francois; Xin, Winnie Wei; Sims, Katherine Bustin; Brown, W. Ted (Public Library of Science, 2012)
      Background: The Neuronal Ceroid Lipofuscinoses (NCL) comprise at least nine progressive neurodegenerative genetic disorders. Kufs disease, an adult-onset form of NCL may be recessively or dominantly inherited. Our study ...

    • Recurrent Chromosomal Copy Number Alterations in Sporadic Chordomas 

      Le, Long Phi; Nielsen, Gunnlaugur Petur; Rosenberg, Andrew Eric; Thomas, Dafydd; Batten, Julie M.; Deshpande, Vikram; Schwab, Joseph H; Duan, Zhenfeng; Xavier, Ramnik; Hornicek, Francis John; Iafrate, Anthony John (Public Library of Science, 2011)
      The molecular events in chordoma pathogenesis have not been fully delineated, particularly with respect to copy number changes. Understanding copy number alterations in chordoma may reveal critical disease mechanisms that ...