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Exercise Increases Age-Related Penetrance and Arrhythmic Risk in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy–Associated Desmosomal Mutation Carriers
James, Cynthia A., Bhonsale, Aditya, Tichnell, Crystal, Murray, Brittney, Russell, Stuart D., Tandri, Harikrishna, Tedford, Ryan J., Judge, Daniel P., Calkins, Hugh
Published in Journal of the American College of Cardiology (01.10.2013)
Published in Journal of the American College of Cardiology (01.10.2013)
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Mutations in IL36RN/IL1F5 Are Associated with the Severe Episodic Inflammatory Skin Disease Known as Generalized Pustular Psoriasis
Onoufriadis, Alexandros, Simpson, Michael A., Pink, Andrew E., Di Meglio, Paola, Smith, Catherine H., Pullabhatla, Venu, Knight, Jo, Spain, Sarah L., Nestle, Frank O., Burden, A. David, Capon, Francesca, Trembath, Richard C., Barker, Jonathan N.
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
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PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome
Agarwal, Anil K., Xing, Chao, DeMartino, George N., Mizrachi, Dario, Hernandez, Maria Dolores, Sousa, Ana Berta, Martínez de Villarreal, Laura, dos Santos, Heloísa G., Garg, Abhimanyu
Published in American journal of human genetics (10.12.2010)
Published in American journal of human genetics (10.12.2010)
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DNA Methylation Signatures in Development and Aging of the Human Prefrontal Cortex
Numata, Shusuke, Ye, Tianzhang, Hyde, Thomas M., Guitart-Navarro, Xavier, Tao, Ran, Wininger, Michael, Colantuoni, Carlo, Weinberger, Daniel R., Kleinman, Joel E., Lipska, Barbara K.
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish
Asharani, P.V., Keupp, Katharina, Semler, Oliver, Wang, Wenshen, Li, Yun, Thiele, Holger, Yigit, Gökhan, Pohl, Esther, Becker, Jutta, Frommolt, Peter, Sonntag, Carmen, Altmüller, Janine, Zimmermann, Katharina, Greenspan, Daniel S., Akarsu, Nurten A., Netzer, Christian, Schönau, Eckhard, Wirth, Radu, Hammerschmidt, Matthias, Nürnberg, Peter, Wollnik, Bernd, Carney, Thomas J.
Published in American journal of human genetics (06.04.2012)
Published in American journal of human genetics (06.04.2012)
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A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands
Tan, Min-Han, Mester, Jessica, Peterson, Charissa, Yang, Yiran, Chen, Jin-Lian, Rybicki, Lisa A., Milas, Kresimira, Pederson, Holly, Remzi, Berna, Orloff, Mohammed S., Eng, Charis
Published in American journal of human genetics (07.01.2011)
Published in American journal of human genetics (07.01.2011)
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Inferring Genetic Ancestry: Opportunities, Challenges, and Implications
Royal, Charmaine D., Novembre, John, Fullerton, Stephanie M., Goldstein, David B., Long, Jeffrey C., Bamshad, Michael J., Clark, Andrew G.
Published in American journal of human genetics (14.05.2010)
Published in American journal of human genetics (14.05.2010)
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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
Shinawi, Marwan, Liu, Pengfei, Kang, Sung-Hae L, Shen, Joseph, Belmont, John W, Scott, Daryl A, Probst, Frank J, Craigen, William J, Graham, Brett H, Pursley, Amber, Clark, Gary, Lee, Jennifer, Proud, Monica, Stocco, Amber, Rodriguez, Diana L, Kozel, Beth A, Sparagana, Steven, Roeder, Elizabeth R, McGrew, Susan G, Kurczynski, Thaddeus W, Allison, Leslie J, Amato, Stephen, Savage, Sarah, Patel, Ankita, Stankiewicz, Pawel, Beaudet, Arthur L, Cheung, Sau Wai, Lupski, James R
Published in Journal of medical genetics (01.05.2010)
Published in Journal of medical genetics (01.05.2010)
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Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease
Chartier-Harlin, Marie-Christine, Dachsel, Justus C., Vilariño-Güell, Carles, Lincoln, Sarah J., Leprêtre, Frédéric, Hulihan, Mary M., Kachergus, Jennifer, Milnerwood, Austen J., Tapia, Lucia, Song, Mee-Sook, Le Rhun, Emilie, Mutez, Eugénie, Larvor, Lydie, Duflot, Aurélie, Vanbesien-Mailliot, Christel, Kreisler, Alexandre, Ross, Owen A., Nishioka, Kenya, Soto-Ortolaza, Alexandra I., Cobb, Stephanie A., Melrose, Heather L., Behrouz, Bahareh, Keeling, Brett H., Bacon, Justin A., Hentati, Emna, Williams, Lindsey, Yanagiya, Akiko, Sonenberg, Nahum, Lockhart, Paul J., Zubair, Abba C., Uitti, Ryan J., Aasly, Jan O., Krygowska-Wajs, Anna, Opala, Grzegorz, Wszolek, Zbigniew K., Frigerio, Roberta, Maraganore, Demetrius M., Gosal, David, Lynch, Tim, Hutchinson, Michael, Bentivoglio, Anna Rita, Valente, Enza Maria, Nichols, William C., Pankratz, Nathan, Foroud, Tatiana, Gibson, Rachel A., Hentati, Faycal, Dickson, Dennis W., Destée, Alain, Farrer, Matthew J.
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
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Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations
Boissel, Sarah, Reish, Orit, Proulx, Karine, Kawagoe-Takaki, Hiroko, Sedgwick, Barbara, Yeo, Giles S.H., Meyre, David, Golzio, Christelle, Molinari, Florence, Kadhom, Noman, Etchevers, Heather C., Saudek, Vladimir, Farooqi, I. Sadaf, Froguel, Philippe, Lindahl, Tomas, O'Rahilly, Stephen, Munnich, Arnold, Colleaux, Laurence
Published in American journal of human genetics (01.07.2009)
Published in American journal of human genetics (01.07.2009)
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Age-Related Somatic Structural Changes in the Nuclear Genome of Human Blood Cells
Forsberg, Lars A., Rasi, Chiara, Razzaghian, Hamid R., Pakalapati, Geeta, Waite, Lindsay, Thilbeault, Krista Stanton, Ronowicz, Anna, Wineinger, Nathan E., Tiwari, Hemant K., Boomsma, Dorret, Westerman, Maxwell P., Harris, Jennifer R., Lyle, Robert, Essand, Magnus, Eriksson, Fredrik, Assimes, Themistocles L., Iribarren, Carlos, Strachan, Eric, O'Hanlon, Terrance P., Rider, Lisa G., Miller, Frederick W., Giedraitis, Vilmantas, Lannfelt, Lars, Ingelsson, Martin, Piotrowski, Arkadiusz, Pedersen, Nancy L., Absher, Devin, Dumanski, Jan P.
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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Disruption of Neurexin 1 Associated with Autism Spectrum Disorder
Kim, Hyung-Goo, Kishikawa, Shotaro, Higgins, Anne W., Seong, Ihn-Sik, Donovan, Diana J., Shen, Yiping, Lally, Eric, Weiss, Lauren A., Najm, Juliane, Kutsche, Kerstin, Descartes, Maria, Holt, Lynn, Braddock, Stephen, Troxell, Robin, Kaplan, Lee, Volkmar, Fred, Klin, Ami, Tsatsanis, Katherine, Harris, David J., Noens, Ilse, Pauls, David L., Daly, Mark J., MacDonald, Marcy E., Morton, Cynthia C., Quade, Bradley J., Gusella, James F.
Published in American journal of human genetics (01.01.2008)
Published in American journal of human genetics (01.01.2008)
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Contribution of SHANK3 Mutations to Autism Spectrum Disorder
Moessner, Rainald, Marshall, Christian R., Sutcliffe, James S., Skaug, Jennifer, Pinto, Dalila, Vincent, John, Zwaigenbaum, Lonnie, Fernandez, Bridget, Roberts, Wendy, Szatmari, Peter, Scherer, Stephen W.
Published in American journal of human genetics (01.12.2007)
Published in American journal of human genetics (01.12.2007)
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Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder
Talkowski, Michael E., Mullegama, Sureni V., Rosenfeld, Jill A., van Bon, Bregje W.M., Shen, Yiping, Repnikova, Elena A., Gastier-Foster, Julie, Thrush, Devon Lamb, Kathiresan, Sekar, Ruderfer, Douglas M., Chiang, Colby, Hanscom, Carrie, Ernst, Carl, Lindgren, Amelia M., Morton, Cynthia C., An, Yu, Astbury, Caroline, Brueton, Louise A., Lichtenbelt, Klaske D., Ades, Lesley C., Fichera, Marco, Romano, Corrado, Innis, Jeffrey W., Williams, Charles A., Bartholomew, Dennis, Van Allen, Margot I., Parikh, Aditi, Zhang, Lilei, Wu, Bai-Lin, Pyatt, Robert E., Schwartz, Stuart, Shaffer, Lisa G., de Vries, Bert B.A., Gusella, James F., Elsea, Sarah H.
Published in American journal of human genetics (07.10.2011)
Published in American journal of human genetics (07.10.2011)
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Yield of Molecular and Clinical Testing for Arrhythmia Syndromes: Report of 15 Years’ Experience
Hofman, Nynke, Tan, Hanno L., Alders, Mariëlle, Kolder, Iris, de Haij, Simone, Mannens, Marcel M.A.M., Lombardi, Maria Paola, dit Deprez, Ronald H. Lekanne, van Langen, Irene, Wilde, Arthur A.M.
Published in Circulation (New York, N.Y.) (01.10.2013)
Published in Circulation (New York, N.Y.) (01.10.2013)
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Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis
Berkovic, Samuel F., Dibbens, Leanne M., Oshlack, Alicia, Silver, Jeremy D., Katerelos, Marina, Vears, Danya F., Lüllmann-Rauch, Renate, Blanz, Judith, Zhang, Ke Wei, Stankovich, Jim, Kalnins, Renate M., Dowling, John P., Andermann, Eva, Andermann, Frederick, Faldini, Enrico, D'Hooge, Rudi, Vadlamudi, Lata, Macdonell, Richard A., Hodgson, Bree L., Bayly, Marta A., Savige, Judy, Mulley, John C., Smyth, Gordon K., Power, David A., Saftig, Paul, Bahlo, Melanie
Published in American journal of human genetics (01.03.2008)
Published in American journal of human genetics (01.03.2008)
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Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model
Bilousova, T V, Dansie, L, Ngo, M, Aye, J, Charles, J R, Ethell, D W, Ethell, I M
Published in Journal of medical genetics (01.02.2009)
Published in Journal of medical genetics (01.02.2009)
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NOTCH2 mutations in Alagille syndrome
Kamath, Binita Maya, Bauer, Robert C, Loomes, Kathleen M, Chao, Grace, Gerfen, Jennifer, Hutchinson, Anne, Hardikar, Winita, Hirschfield, Gideon, Jara, Paloma, Krantz, Ian D, Lapunzina, Pablo, Leonard, Laura, Ling, Simon, Ng, Vicky Lee, Hoang, Phuc Le, Piccoli, David A, Spinner, Nancy Bettina
Published in Journal of medical genetics (01.02.2012)
Published in Journal of medical genetics (01.02.2012)
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