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Volume 84(5);  May 15, 2009
Editors' Corner
This Month in The Journal
Kathryn D. Bungartz and Robin E. Williamson
Am J Hum Genet. 2009 May 15; 84(5): 553–554. doi: 10.1016/j.ajhg.2009.04.019.
PMCID: PMC2680993
This Month in Genetics
Kathryn B. Garber
Am J Hum Genet. 2009 May 15; 84(5): 555–556. doi: 10.1016/j.ajhg.2009.04.011.
PMCID: PMC2680996
Article
A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease
Andrew J. Duncan, Maria Bitner-Glindzicz, Brigitte Meunier, Harry Costello, Iain P. Hargreaves, Luis C. López, Michio Hirano, Catarina M. Quinzii, Michael I. Sadowski, John Hardy, Andrew Singleton, Peter T. Clayton, and Shamima Rahman
Am J Hum Genet. 2009 May 15; 84(5): 558–566. doi: 10.1016/j.ajhg.2009.03.018.
PMCID: PMC2681001
Book Review
Genetic Effects on Environmental Vulnerability to Disease
Heather M. Ochs-Balcom
Am J Hum Genet. 2009 May 15; 84(5): 558–566. doi: 10.1016/j.ajhg.2009.04.012.
PMCID: PMC2681002
Articles
Multilocus Bayesian Meta-Analysis of Gene-Disease Associations
Paul J. Newcombe, Claudio Verzilli, Juan P. Casas, Aroon D. Hingorani, Liam Smeeth, and John C. Whittaker
Am J Hum Genet. 2009 May 15; 84(5): 567–580. doi: 10.1016/j.ajhg.2009.04.001.
PMCID: PMC2680997
Genome-wide Association Analysis Identifies PDE4D as an Asthma-Susceptibility Gene
Blanca E. Himes, Gary M. Hunninghake, James W. Baurley, Nicholas M. Rafaels, Patrick Sleiman, David P. Strachan, Jemma B. Wilk, Saffron A.G. Willis-Owen, Barbara Klanderman, Jessica Lasky-Su, Ross Lazarus, Amy J. Murphy, Manuel E. Soto-Quiros, Lydiana Avila, Terri Beaty, Rasika A. Mathias, Ingo Ruczinski, Kathleen C. Barnes, Juan C. Celedón, William O.C. Cookson, W. James Gauderman, Frank D. Gilliland, Hakon Hakonarson, Christoph Lange, Miriam F. Moffatt, George T. O'Connor, Benjamin A. Raby, Edwin K. Silverman, and Scott T. Weiss
Am J Hum Genet. 2009 May 15; 84(5): 581–593. doi: 10.1016/j.ajhg.2009.04.006.
PMCID: PMC2681010
The Mitochondrial Disulfide Relay System Protein GFER Is Mutated in Autosomal-Recessive Myopathy with Cataract and Combined Respiratory-Chain Deficiency
Alessio Di Fonzo, Dario Ronchi, Tiziana Lodi, Elisa Fassone, Marco Tigano, Costanza Lamperti, Stefania Corti, Andreina Bordoni, Francesco Fortunato, Monica Nizzardo, Laura Napoli, Chiara Donadoni, Sabrina Salani, Francesca Saladino, Maurizio Moggio, Nereo Bresolin, Iliana Ferrero, and Giacomo P. Comi
Am J Hum Genet. 2009 May 15; 84(5): 594–604. doi: 10.1016/j.ajhg.2009.04.004.
PMCID: PMC2681006
Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-like Disorder
Regina Waltes, Reinhard Kalb, Magtouf Gatei, Amanda W. Kijas, Markus Stumm, Alexandra Sobeck, Britta Wieland, Raymonda Varon, Yaniv Lerenthal, Martin F. Lavin, Detlev Schindler, and Thilo Dörk
Am J Hum Genet. 2009 May 15; 84(5): 605–616. doi: 10.1016/j.ajhg.2009.04.010.
PMCID: PMC2681000
Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease
Dong-Chuan Guo, Christina L. Papke, Van Tran-Fadulu, Ellen S. Regalado, Nili Avidan, Ralph Jay Johnson, Dong H. Kim, Hariyadarshi Pannu, Marcia C. Willing, Elizabeth Sparks, Reed E. Pyeritz, Michael N. Singh, Ronald L. Dalman, James C. Grotta, Ali J. Marian, Eric A. Boerwinkle, Lorraine Q. Frazier, Scott A. LeMaire, Joseph S. Coselli, Anthony L. Estrera, Hazim J. Safi, Sudha Veeraraghavan, Donna M. Muzny, David A. Wheeler, James T. Willerson, Robert K. Yu, Sanjay S. Shete, Steven E. Scherer, C.S. Raman, L. Maximilian Buja, and Dianna M. Milewicz
Am J Hum Genet. 2009 May 15; 84(5): 617–627. doi: 10.1016/j.ajhg.2009.04.007.
PMCID: PMC2680995
The Diversity Present in 5140 Human Mitochondrial Genomes
Luísa Pereira, Fernando Freitas, Verónica Fernandes, Joana B. Pereira, Marta D. Costa, Stephanie Costa, Valdemar Máximo, Vincent Macaulay, Ricardo Rocha, and David C. Samuels
Am J Hum Genet. 2009 May 15; 84(5): 628–640. doi: 10.1016/j.ajhg.2009.04.013.
PMCID: PMC2681004
Genome-wide Insights into the Patterns and Determinants of Fine-Scale Population Structure in Humans
Shameek Biswas, Laura B. Scheinfeldt, and Joshua M. Akey
Am J Hum Genet. 2009 May 15; 84(5): 641–650. doi: 10.1016/j.ajhg.2009.04.015.
PMCID: PMC2681007
Mutations of KCNJ10 Together with Mutations of SLC26A4 Cause Digenic Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Syndrome
Tao Yang, Jose G. Gurrola, II, Hao Wu, Sui M. Chiu, Philine Wangemann, Peter M. Snyder, and Richard J.H. Smith
Am J Hum Genet. 2009 May 15; 84(5): 651–657. doi: 10.1016/j.ajhg.2009.04.014.
PMCID: PMC2681005
Reports
Ovaries and Female Phenotype in a Girl with 46,XY Karyotype and Mutations in the CBX2 Gene
Anna Biason-Lauber, Daniel Konrad, Monika Meyer, Carine deBeaufort, and Eugen J. Schoenle
Am J Hum Genet. 2009 May 15; 84(5): 658–663. doi: 10.1016/j.ajhg.2009.03.016.
PMCID: PMC2680992
Null Mutations in LTBP2 Cause Primary Congenital Glaucoma
Manir Ali, Martin McKibbin, Adam Booth, David A. Parry, Payal Jain, S. Amer Riazuddin, J. Fielding Hejtmancik, Shaheen N. Khan, Sabika Firasat, Mike Shires, David F. Gilmour, Katherine Towns, Anna-Louise Murphy, Dimitar Azmanov, Ivailo Tournev, Sylvia Cherninkova, Hussain Jafri, Yasmin Raashid, Carmel Toomes, Jamie Craig, David A. Mackey, Luba Kalaydjieva, Sheikh Riazuddin, and Chris F. Inglehearn
Am J Hum Genet. 2009 May 15; 84(5): 664–671. doi: 10.1016/j.ajhg.2009.03.017.
PMCID: PMC2680998
Gain-of-Function Mutation of KIT Ligand on Melanin Synthesis Causes Familial Progressive Hyperpigmentation
Zhi-Qiang Wang, Lizhen Si, Quan Tang, Debao Lin, Zhangjie Fu, Jing Zhang, Bin Cui, Yufei Zhu, Xianghua Kong, Min Deng, Yu Xia, Heng Xu, Weidong Le, Landian Hu, and Xiangyin Kong
Am J Hum Genet. 2009 May 15; 84(5): 672–677. doi: 10.1016/j.ajhg.2009.03.019.
PMCID: PMC2680999
Significant Linkage Evidence for a Predisposition Gene for Pelvic Floor Disorders on Chromosome 9q21
Kristina Allen-Brady, Peggy A. Norton, James M. Farnham, Craig Teerlink, and Lisa A. Cannon-Albright
Am J Hum Genet. 2009 May 15; 84(5): 678–682. doi: 10.1016/j.ajhg.2009.04.002.
PMCID: PMC2681003
Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice
David A. Parry, Carmel Toomes, Lina Bida, Michael Danciger, Katherine V. Towns, Martin McKibbin, Samuel G. Jacobson, Clare V. Logan, Manir Ali, Jacquelyn Bond, Rebecca Chance, Steven Swendeman, Lauren L. Daniele, Kelly Springell, Matthew Adams, Colin A. Johnson, Adam P. Booth, Hussain Jafri, Yasmin Rashid, Eyal Banin, Tim M. Strom, Debora B. Farber, Dror Sharon, Carl P. Blobel, Edward N. Pugh, Jr., Eric A. Pierce, and Chris F. Inglehearn
Am J Hum Genet. 2009 May 15; 84(5): 683–691. doi: 10.1016/j.ajhg.2009.04.005.
PMCID: PMC2681008
IFRD1 Is a Candidate Gene for SMNA on Chromosome 7q22-q23
Zoran Brkanac, David Spencer, Jay Shendure, Peggy D. Robertson, Mark Matsushita, Tiffany Vu, Thomas D. Bird, Maynard V. Olson, and Wendy H. Raskind
Am J Hum Genet. 2009 May 15; 84(5): 692–697. doi: 10.1016/j.ajhg.2009.04.008.
PMCID: PMC2680994
Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene
Stephen R.F. Twigg, Sarah L. Versnel, Gudrun Nürnberg, Melissa M. Lees, Meenakshi Bhat, Peter Hammond, Raoul C.M. Hennekam, A. Jeannette M. Hoogeboom, Jane A. Hurst, David Johnson, Alexis A. Robinson, Peter J. Scambler, Dianne Gerrelli, Peter Nürnberg, Irene M.J. Mathijssen, and Andrew O.M. Wilkie
Am J Hum Genet. 2009 May 15; 84(5): 698–705. doi: 10.1016/j.ajhg.2009.04.009.
PMCID: PMC2681074
DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III
Nathalie Dagoneau, Marie Goulet, David Geneviève, Yves Sznajer, Jelena Martinovic, Sarah Smithson, Céline Huber, Geneviève Baujat, Elisabeth Flori, Laura Tecco, Denise Cavalcanti, Anne-Lise Delezoide, Valérie Serre, Martine Le Merrer, Arnold Munnich, and Valérie Cormier-Daire
Am J Hum Genet. 2009 May 15; 84(5): 706–711. doi: 10.1016/j.ajhg.2009.04.016.
PMCID: PMC2681009
Erratum
Genome-wide Association Study of Vitamin B6, Vitamin B12, Folate, and Homocysteine Blood Concentrations
Toshiko Tanaka, Paul Scheet, Betti Giusti, Stefania Bandinelli, Maria Grazia Piras, Gianluca Usala, Sandra Lai, Antonella Mulas, Anna Maria Corsi, Anna Vestrini, Francesco Sofi, Anna Maria Gori, Rosanna Abbate, Jack Guralnik, Andrew Singleton, Goncalo R. Abecasis, David Schlessinger, Manuela Uda, and Luigi Ferrucci
Am J Hum Genet. 2009 May 15; 84(5): 712. Published online 2009 May 9. doi: 10.1016/j.ajhg.2009.04.003.
PMCID: PMC2683944
Corrects: Toshiko Tanaka, et al. Genome-wide Association Study of Vitamin B6, Vitamin B12, Folate, and Homocysteine Blood Concentrations. Am J Hum Genet. 2009 April 10; 84(4): 477–482.
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