Volume 84(3); 2009 Mar 13

Editors' Corner

This Month in The Journal

Kathryn D. Bungartz, Robin E. Williamson

Am J Hum Genet. 2009 Mar 13; 84(3): 303–304. doi: 10.1016/j.ajhg.2009.02.007

PMCID:: PMC2668014

Article PubReader PDF–51K Cite

This Month in Genetics

Kathryn B. Garber

Am J Hum Genet. 2009 Mar 13; 84(3): 305–306. doi: 10.1016/j.ajhg.2009.02.008

PMCID:: PMC2667996

Article PubReader PDF–49K Cite

Articles

Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

Deborah Krakow, Joris Vriens, Natalia Camacho, Phi Luong, Hannah Deixler, Tara L. Funari, Carlos A. Bacino, Mira B. Irons, Ingrid A. Holm, Laurie Sadler, Ericka B. Okenfuss, Annelies Janssens, Thomas Voets, David L. Rimoin, Ralph S. Lachman, Bernd Nilius, Daniel H. Cohn

Am J Hum Genet. 2009 Mar 13; 84(3): 307–315. doi: 10.1016/j.ajhg.2009.01.021

PMCID:: PMC2667978

Article PubReader PDF–757K Cite

Signatures of Purifying and Local Positive Selection in Human miRNAs

Hélène Quach, Luis B. Barreiro, Guillaume Laval, Nora Zidane, Etienne Patin, Kenneth K. Kidd, Judith R. Kidd, Christiane Bouchier, Michel Veuille, Christophe Antoniewski, Lluís Quintana-Murci

Am J Hum Genet. 2009 Mar 13; 84(3): 316–327. doi: 10.1016/j.ajhg.2009.01.022

PMCID:: PMC2667980

Article PubReader PDF–856K Cite

A Genome-wide Analysis Identifies Genetic Variants in the RELN Gene Associated with Otosclerosis

Isabelle Schrauwen, Megan Ealy, Matthew J. Huentelman, Melissa Thys, Nils Homer, Kathleen Vanderstraeten, Erik Fransen, Jason J. Corneveaux, David W. Craig, Mireille Claustres, Cor W.R.J. Cremers, Ingeborg Dhooge, Paul Van de Heyning, Robert Vincent, Erwin Offeciers, Richard J.H. Smith, Guy Van Camp

Am J Hum Genet. 2009 Mar 13; 84(3): 328–338. doi: 10.1016/j.ajhg.2009.01.023

PMCID:: PMC2667982

Article PubReader PDF–656K Cite

Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants

Martin F. Arlt, Jennifer G. Mulle, Valerie M. Schaibley, Ryan L. Ragland, Sandra G. Durkin, Stephen T. Warren, Thomas W. Glover

Am J Hum Genet. 2009 Mar 13; 84(3): 339–350. doi: 10.1016/j.ajhg.2009.01.024

PMCID:: PMC2667984

Article PubReader PDF–1019K Cite

CAG Expansion in the Huntington Disease Gene Is Associated with a Specific and Targetable Predisposing Haplogroup

Simon C. Warby, Alexandre Montpetit, Anna R. Hayden, Jeffrey B. Carroll, Stefanie L. Butland, Henk Visscher, Jennifer A. Collins, Alicia Semaka, Thomas J. Hudson, Michael R. Hayden

Am J Hum Genet. 2009 Mar 13; 84(3): 351–366. doi: 10.1016/j.ajhg.2009.02.003

PMCID:: PMC2668007

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Genome-wide Association Study of Smoking Initiation and Current Smoking

Jacqueline M. Vink, August B. Smit, Eco J.C. de Geus, Patrick Sullivan, Gonneke Willemsen, Jouke-Jan Hottenga, Johannes H. Smit, Witte J. Hoogendijk, Frans G. Zitman, Leena Peltonen, Jaakko Kaprio, Nancy L. Pedersen, Patrik K. Magnusson, Tim D. Spector, Kirsten Ohm Kyvik, Katherine I. Morley, Andrew C. Heath, Nicholas G. Martin, Rudi G.J. Westendorp, P. Eline Slagboom, Henning Tiemeier, Albert Hofman, Andre G. Uitterlinden, Yurii S. Aulchenko, Najaf Amin, Cornelia van Duijn, Brenda W. Penninx, Dorret I. Boomsma

Am J Hum Genet. 2009 Mar 13; 84(3): 367–379. doi: 10.1016/j.ajhg.2009.02.001

PMCID:: PMC2667987

Article PubReader PDF–884K Cite

Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa

Hui Wang, Anneke I. den Hollander, Yalda Moayedi, Abuduaini Abulimiti, Yumei Li, Rob W.J. Collin, Carel B. Hoyng, Irma Lopez, Molly Bray, Richard Alan Lewis, James R. Lupski, Graeme Mardon, Robert K. Koenekoop, Rui Chen

Am J Hum Genet. 2009 Mar 13; 84(3): 380–387. doi: 10.1016/j.ajhg.2009.02.005

Correction in:: Am J Hum Genet. 2010 Feb 12; 86(2): 293.

PMCID:: PMC2668010

Article PubReader PDF–610K Cite

Reports

Genome-wide Association and Follow-Up Replication Studies Identified ADAMTS18 and TGFBR3 as Bone Mass Candidate Genes in Different Ethnic Groups

Dong-Hai Xiong, Xiao-Gang Liu, Yan-Fang Guo, Li-Jun Tan, Liang Wang, Bao-Yong Sha, Zi-Hui Tang, Feng Pan, Tie-Lin Yang, Xiang-Ding Chen, Shu-Feng Lei, Laura M. Yerges, Xue-Zen Zhu, Victor W. Wheeler, Alan L. Patrick, ClareAnn H. Bunker, Yan Guo, Han Yan, Yu-Fang Pei, Yin-Pin Zhang, Shawn Levy, Christopher J. Papasian, Peng Xiao, Y. Wang Lundberg, Robert R. Recker, Yao-Zhong Liu, Yong-Jun Liu, Joseph M. Zmuda, Hong-Wen Deng

Am J Hum Genet. 2009 Mar 13; 84(3): 388–398. doi: 10.1016/j.ajhg.2009.01.025

PMCID:: PMC2667986

Article PubReader PDF–655K Cite

Diverse Genome-wide Association Studies Associate the IL12/IL23 Pathway with Crohn Disease

Kai Wang, Haitao Zhang, Subra Kugathasan, Vito Annese, Jonathan P. Bradfield, Richard K. Russell, Patrick M.A. Sleiman, Marcin Imielinski, Joseph Glessner, Cuiping Hou, David C. Wilson, Thomas Walters, Cecilia Kim, Edward C. Frackelton, Paolo Lionetti, Arrigo Barabino, Johan Van Limbergen, Stephen Guthery, Lee Denson, David Piccoli, Mingyao Li, Marla Dubinsky, Mark Silverberg, Anne Griffiths, Struan F.A. Grant, Jack Satsangi, Robert Baldassano, Hakon Hakonarson

Am J Hum Genet. 2009 Mar 13; 84(3): 399–405. doi: 10.1016/j.ajhg.2009.01.026

PMCID:: PMC2668006

Article PubReader PDF–196K Cite

Mutations in BMP4 Are Associated with Subepithelial, Microform, and Overt Cleft Lip

Satoshi Suzuki, Mary L. Marazita, Margaret E. Cooper, Nobutomo Miwa, Anne Hing, Astanand Jugessur, Nagato Natsume, Kazuo Shimozato, Naofumi Ohbayashi, Yasushi Suzuki, Teruyuki Niimi, Katsuhiro Minami, Masahiko Yamamoto, Tserendorj J. Altannamar, Tudevdorj Erkhembaatar, Hiroo Furukawa, Sandra Daack-Hirsch, Jamie L'Heureux, Carla A. Brandon, Seth M. Weinberg, Katherine Neiswanger, Frederic W.B. Deleyiannis, Javier E. de Salamanca, Alexandre R. Vieira, Andrew C. Lidral, James F. Martin, Jeffrey C. Murray

Am J Hum Genet. 2009 Mar 13; 84(3): 406–411. doi: 10.1016/j.ajhg.2009.02.002

PMCID:: PMC2667991

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Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX4I2 Gene

Eyal Shteyer, Ann Saada, Avraham Shaag, Fida' Aziz Al-Hijawi, Rojette Kidess, Shoshanah Revel-Vilk, Orly Elpeleg

Am J Hum Genet. 2009 Mar 13; 84(3): 412–417. doi: 10.1016/j.ajhg.2009.02.006

PMCID:: PMC2668012

Article PubReader PDF–616K Cite

Genome-wide Association and Replication Studies Identified TRHR as an Important Gene for Lean Body Mass

Xiao-Gang Liu, Li-Jun Tan, Shu-Feng Lei, Yong-Jun Liu, Hui Shen, Liang Wang, Han Yan, Yan-Fang Guo, Dong-Hai Xiong, Xiang-Ding Chen, Feng Pan, Tie-Lin Yang, Yin-Ping Zhang, Yan Guo, Nelson L. Tang, Xue-Zhen Zhu, Hong-Yi Deng, Shawn Levy, Robert R. Recker, Christopher J. Papasian, Hong-Wen Deng

Am J Hum Genet. 2009 Mar 13; 84(3): 418–423. doi: 10.1016/j.ajhg.2009.02.004

PMCID:: PMC2668008

Article PubReader PDF–498K Cite

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics