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Volume 90(3);  March 9, 2012

Editors' Corner

This Month in The Journal
Sara B. Cullinan
Am J Hum Genet. 2012 March 9; 90(3): 381–382. doi: 10.1016/j.ajhg.2012.02.014
PMCID:
PMC3309203
Free in PMC on 2012/09/09
This Month in Genetics
Kathryn B. Garber
Am J Hum Genet. 2012 March 9; 90(3): 383–384. doi: 10.1016/j.ajhg.2012.02.016
Correction in:
Am J Hum Genet. 2012 April 6; 90(4): 752.
PMCID:
PMC3309202
Free in PMC on 2012/09/09

ASHG Awards and Addresses

2011 ASHG Awards and Addresses
Am J Hum Genet. 2012 March 9; 90(3): 385–386. doi: 10.1016/j.ajhg.2012.02.004
PMCID:
PMC3309193
Free in PMC on 2012/09/09
2011 Presidential Address: From Classroom to Courtroom to Clinic—Closing the Gaps in Human Genetics Education
Lynn B. Jorde
Am J Hum Genet. 2012 March 9; 90(3): 387–389. doi: 10.1016/j.ajhg.2012.02.001
PMCID:
PMC3309198
Free in PMC on 2012/09/09
2011 William Allan Award Introduction: John M. Opitz
Maximilian Muenke
Am J Hum Genet. 2012 March 9; 90(3): 390–391. doi: 10.1016/j.ajhg.2012.01.011
PMCID:
PMC3309199
Free in PMC on 2012/09/09
2011 William Allan Award: Development and Evolution
John M. Opitz
Am J Hum Genet. 2012 March 9; 90(3): 392–404. doi: 10.1016/j.ajhg.2011.12.025
PMCID:
PMC3309190
Free in PMC on 2012/09/09
2011 Introduction to Curt Stern Award
Aravinda Chakravarti
Am J Hum Genet. 2012 March 9; 90(3): 405–406. doi: 10.1016/j.ajhg.2012.02.015
PMCID:
PMC3309201
Free in PMC on 2012/09/09
2011 Curt Stern Award Address
David Altshuler
Am J Hum Genet. 2012 March 9; 90(3): 407–409. doi: 10.1016/j.ajhg.2012.02.017
PMCID:
PMC3309200
Free in PMC on 2012/09/09

Articles

Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci
Richa Saxena, Clara C. Elbers, Yiran Guo, Inga Peter, Tom R. Gaunt, Jessica L. Mega, Matthew B. Lanktree, Archana Tare, Berta Almoguera Castillo, Yun R. Li, Toby Johnson, Marcel Bruinenberg, Diane Gilbert-Diamond, Ramakrishnan Rajagopalan, Benjamin F. Voight, Ashok Balasubramanyam, John Barnard, Florianne Bauer, Jens Baumert, Tushar Bhangale, Bernhard O. Böhm, Peter S. Braund, Paul R. Burton, Hareesh R. Chandrupatla, Robert Clarke, Rhonda M. Cooper-DeHoff, Errol D. Crook, George Davey-Smith, Ian N. Day, Anthonius de Boer, Mark C.H. de Groot, Fotios Drenos, Jane Ferguson, Caroline S. Fox, Clement E. Furlong, Quince Gibson, Christian Gieger, Lisa A. Gilhuijs-Pederson, Joseph T. Glessner, Anuj Goel, Yan Gong, Struan F.A. Grant, Diederick E. Grobbee, Claire Hastie, Steve E. Humphries, Cecilia E. Kim, Mika Kivimaki, Marcus Kleber, Christa Meisinger, Meena Kumari, Taimour Y. Langaee, Debbie A. Lawlor, Mingyao Li, Maximilian T. Lobmeyer, Anke-Hilse Maitland-van der Zee, Matthijs F.L. Meijs, Cliona M. Molony, David A. Morrow, Gurunathan Murugesan, Solomon K. Musani, Christopher P. Nelson, Stephen J. Newhouse, Jeffery R. O'Connell, Sandosh Padmanabhan, Jutta Palmen, Sanjey R. Patel, Carl J. Pepine, Mary Pettinger, Thomas S. Price, Suzanne Rafelt, Jane Ranchalis, Asif Rasheed, Elisabeth Rosenthal, Ingo Ruczinski, Sonia Shah, Haiqing Shen, Günther Silbernagel, Erin N. Smith, Annemieke W.M. Spijkerman, Alice Stanton, Michael W. Steffes, Barbara Thorand, Mieke Trip, Pim van der Harst, Daphne L. van der A, Erik P.A. van Iperen, Jessica van Setten, Jana V. van Vliet-Ostaptchouk, Niek Verweij, Bruce H.R. Wolffenbuttel, Taylor Young, M. Hadi Zafarmand, Joseph M. Zmuda, the Look AHEAD Research Group, DIAGRAM consortium, Michael Boehnke, David Altshuler, Mark McCarthy, W.H. Linda Kao, James S. Pankow, Thomas P. Cappola, Peter Sever, Neil Poulter, Mark Caulfield, Anna Dominiczak, Denis C. Shields, Deepak L. Bhatt, Li Zhang, Sean P. Curtis, John Danesh, Juan P. Casas, Yvonne T. van der Schouw, N. Charlotte Onland-Moret, Pieter A. Doevendans, Gerald W. Dorn, II, Martin Farrall, Garret A. FitzGerald, Anders Hamsten, Robert Hegele, Aroon D. Hingorani, Marten H. Hofker, Gordon S. Huggins, Thomas Illig, Gail P. Jarvik, Julie A. Johnson, Olaf H. Klungel, William C. Knowler, Wolfgang Koenig, Winfried März, James B. Meigs, Olle Melander, Patricia B. Munroe, Braxton D. Mitchell, Susan J. Bielinski, Daniel J. Rader, Muredach P. Reilly, Stephen S. Rich, Jerome I. Rotter, Danish Saleheen, Nilesh J. Samani, Eric E. Schadt, Alan R. Shuldiner, Roy Silverstein, Kandice Kottke-Marchant, Philippa J. Talmud, Hugh Watkins, Folkert W. Asselbergs, Paul I.W. de Bakker, Jeanne McCaffery, Cisca Wijmenga, Marc S. Sabatine, James G. Wilson, Alex Reiner, Donald W. Bowden, Hakon Hakonarson, David S. Siscovick, Brendan J. Keating
Am J Hum Genet. 2012 March 9; 90(3): 410–425. doi: 10.1016/j.ajhg.2011.12.022
Correction in:
Am J Hum Genet. 2012 April 6; 90(4): 753.
PMCID:
PMC3309185
Free in PMC on 2012/09/09
Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita
Marjolijn C.J. Jongmans, Eugene T.P. Verwiel, Yvonne Heijdra, Tom Vulliamy, Eveline J. Kamping, Jayne Y. Hehir-Kwa, Ernie M.H.F. Bongers, Rolph Pfundt, Liesbeth van Emst, Frank N. van Leeuwen, Koen L.I. van Gassen, Ad Geurts van Kessel, Inderjeet Dokal, Nicoline Hoogerbrugge, Marjolijn J.L. Ligtenberg, Roland P. Kuiper
Am J Hum Genet. 2012 March 9; 90(3): 426–433. doi: 10.1016/j.ajhg.2012.01.004
PMCID:
PMC3309184
Free in PMC on 2012/09/09
Common SNP-Based Haplotype Analysis of the 4p16.3 Huntington Disease Gene Region
Jong-Min Lee, Tammy Gillis, Jayalakshmi Srinidhi Mysore, Eliana Marisa Ramos, Richard H. Myers, Michael R. Hayden, Patrick J. Morrison, Martha Nance, Christopher A. Ross, Russell L. Margolis, Ferdinando Squitieri, Annamaria Griguoli, Stefano Di Donato, Estrella Gomez-Tortosa, Carmen Ayuso, Oksana Suchowersky, Ronald J. Trent, Elizabeth McCusker, Andrea Novelletto, Marina Frontali, Randi Jones, Tetsuo Ashizawa, Samuel Frank, Marie-Helene Saint-Hilaire, Steven M. Hersch, Herminia D. Rosas, Diane Lucente, Madaline B. Harrison, Andrea Zanko, Ruth K. Abramson, Karen Marder, Jorge Sequeiros, Marcy E. MacDonald, James F. Gusella
Am J Hum Genet. 2012 March 9; 90(3): 434–444. doi: 10.1016/j.ajhg.2012.01.005
PMCID:
PMC3309179
Free in PMC on 2012/09/09
Genetically Determined Partial Complement C4 Deficiency States Are Not Independent Risk Factors for SLE in UK and Spanish Populations
Lora Boteva, David L. Morris, Josefina Cortés-Hernández, Javier Martin, Timothy J. Vyse, Michelle M.A. Fernando
Am J Hum Genet. 2012 March 9; 90(3): 445–456. doi: 10.1016/j.ajhg.2012.01.012
PMCID:
PMC3309188
Free in PMC on 2012/09/09
Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man
Karin Tuschl, Peter T. Clayton, Sidney M. Gospe, Jr., Shamshad Gulab, Shahnaz Ibrahim, Pratibha Singhi, Roosy Aulakh, Reinaldo T. Ribeiro, Orlando G. Barsottini, Maha S. Zaki, Maria Luz Del Rosario, Sarah Dyack, Victoria Price, Andrea Rideout, Kevin Gordon, Ron A. Wevers, W.K. “Kling” Chong, Philippa B. Mills
Am J Hum Genet. 2012 March 9; 90(3): 457–466. doi: 10.1016/j.ajhg.2012.01.018
PMCID:
PMC3309187
Free in PMC on 2012/09/09
Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease
Marialuisa Quadri, Antonio Federico, Tianna Zhao, Guido J. Breedveld, Carla Battisti, Cathérine Delnooz, Lies-Anne Severijnen, Lara Di Toro Mammarella, Andrea Mignarri, Lucia Monti, Antioco Sanna, Peng Lu, Francesca Punzo, Giovanni Cossu, Rob Willemsen, Fabrizio Rasi, Ben A. Oostra, Bart P. van de Warrenburg, Vincenzo Bonifati
Am J Hum Genet. 2012 March 9; 90(3): 467–477. doi: 10.1016/j.ajhg.2012.01.017
PMCID:
PMC3309204
Free in PMC on 2012/09/09

Reports

Genome-wide Association Study of Three-Dimensional Facial Morphology Identifies a Variant in PAX3 Associated with Nasion Position
Lavinia Paternoster, Alexei I. Zhurov, Arshed M. Toma, John P. Kemp, Beate St. Pourcain, Nicholas J. Timpson, George McMahon, Wendy McArdle, Susan M. Ring, George Davey Smith, Stephen Richmond, David M. Evans
Am J Hum Genet. 2012 March 9; 90(3): 478–485. doi: 10.1016/j.ajhg.2011.12.021
PMCID:
PMC3309180
Abstract Full Text PDF–924K Supplementary Material
The Basque Paradigm: Genetic Evidence of a Maternal Continuity in the Franco-Cantabrian Region since Pre-Neolithic Times
Doron M. Behar, Christine Harmant, Jeremy Manry, Mannis van Oven, Wolfgang Haak, Begoña Martinez-Cruz, Jasone Salaberria, Bernard Oyharçabal, Frédéric Bauduer, David Comas, Lluis Quintana-Murci, The Genographic Consortium
Am J Hum Genet. 2012 March 9; 90(3): 486–493. doi: 10.1016/j.ajhg.2012.01.002
PMCID:
PMC3309182
Free in PMC on 2012/09/09
Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB
Andreas Zankl, Emma L. Duncan, Paul J. Leo, Graeme R. Clark, Evgeny A. Glazov, Marie-Claude Addor, Troels Herlin, Chong Ae Kim, Bruno P. Leheup, Jim McGill, Steven McTaggart, Stephan Mittas, Anna L. Mitchell, Geert R. Mortier, Stephen P. Robertson, Marie Schroeder, Paulien Terhal, Matthew A. Brown
Am J Hum Genet. 2012 March 9; 90(3): 494–501. doi: 10.1016/j.ajhg.2012.01.003
PMCID:
PMC3309183
Free in PMC on 2012/09/09
De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP
Krishna R. Veeramah, Janelle E. O'Brien, Miriam H. Meisler, Xiaoyang Cheng, Sulayman D. Dib-Hajj, Stephen G. Waxman, Dinesh Talwar, Santhosh Girirajan, Evan E. Eichler, Linda L. Restifo, Robert P. Erickson, Michael F. Hammer
Am J Hum Genet. 2012 March 9; 90(3): 502–510. doi: 10.1016/j.ajhg.2012.01.006
PMCID:
PMC3309181
Free in PMC on 2012/09/09
Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
Akio Tanaka, Sarah Weinel, Nikoletta Nagy, Mark O'Driscoll, Joey E. Lai-Cheong, Carol L. Kulp-Shorten, Alfred Knable, Gillian Carpenter, Sheila A. Fisher, Makiko Hiragun, Yuhki Yanase, Michihiro Hide, Jeffrey Callen, John A. McGrath
Am J Hum Genet. 2012 March 9; 90(3): 511–517. doi: 10.1016/j.ajhg.2012.01.007
PMCID:
PMC3309191
Free in PMC on 2012/09/09
Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2
Ronen Spiegel, Ophry Pines, Asaf Ta-Shma, Efrat Burak, Avraham Shaag, Jonatan Halvardson, Shimon Edvardson, Muhammad Mahajna, Shamir Zenvirt, Ann Saada, Stavit Shalev, Lars Feuk, Orly Elpeleg
Am J Hum Genet. 2012 March 9; 90(3): 518–523. doi: 10.1016/j.ajhg.2012.01.009
PMCID:
PMC3309186
Free in PMC on 2012/09/09
Use of a Multiethnic Approach to Identify Rheumatoid- Arthritis-Susceptibility Loci, 1p36 and 17q12
Fina A.S. Kurreeman, Eli A. Stahl, Yukinori Okada, Katherine Liao, Dorothée Diogo, Soumya Raychaudhuri, Jan Freudenberg, Yuta Kochi, Nikolaos A. Patsopoulos, Namrata Gupta, CLEAR investigators, Cynthia Sandor, So-Young Bang, Hye-Soon Lee, Leonid Padyukov, Akari Suzuki, Kathy Siminovitch, Jane Worthington, Peter K. Gregersen, Laura B. Hughes, Richard J. Reynolds, S. Louis Bridges, Jr., Sang-Cheol Bae, Kazuhiko Yamamoto, Robert M. Plenge
Am J Hum Genet. 2012 March 9; 90(3): 524–532. doi: 10.1016/j.ajhg.2012.01.010
PMCID:
PMC3309197
Free in PMC on 2012/09/09
Mutations in LOXHD1, a Recessive-Deafness Locus, Cause Dominant Late-Onset Fuchs Corneal Dystrophy
S. Amer Riazuddin, David S. Parker, Elyse J. McGlumphy, Edwin C. Oh, Benjamin W. Iliff, Thore Schmedt, Ula Jurkunas, Robert Schleif, Nicholas Katsanis, John D. Gottsch
Am J Hum Genet. 2012 March 9; 90(3): 533–539. doi: 10.1016/j.ajhg.2012.01.013
PMCID:
PMC3309196
Free in PMC on 2012/09/09
Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts
Anne Polvi, Tarja Linnankivi, Tero Kivelä, Riitta Herva, James P. Keating, Outi Mäkitie, Davide Pareyson, Leena Vainionpää, Jenni Lahtinen, Iiris Hovatta, Helena Pihko, Anna-Elina Lehesjoki
Am J Hum Genet. 2012 March 9; 90(3): 540–549. doi: 10.1016/j.ajhg.2012.02.002
PMCID:
PMC3309194
Free in PMC on 2012/09/09
Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling
Amy E. Merrill, Anna Sarukhanov, Pavel Krejci, Brian Idoni, Natalia Camacho, Kristine D. Estrada, Karen M. Lyons, Hannah Deixler, Haynes Robinson, David Chitayat, Cynthia J. Curry, Ralph S. Lachman, William R. Wilcox, Deborah Krakow
Am J Hum Genet. 2012 March 9; 90(3): 550–557. doi: 10.1016/j.ajhg.2012.02.005
PMCID:
PMC3309195
Free in PMC on 2012/09/09
Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome
Zhimiao Lin, Quan Chen, Mingyang Lee, Xu Cao, Jie Zhang, Donglai Ma, Long Chen, Xiaoping Hu, Huijun Wang, Xiaowen Wang, Peng Zhang, Xuanzhu Liu, Liping Guan, Yiquan Tang, Haizhen Yang, Ping Tu, Dingfang Bu, Xuejun Zhu, KeWei Wang, Ruoyu Li, Yong Yang
Am J Hum Genet. 2012 March 9; 90(3): 558–564. doi: 10.1016/j.ajhg.2012.02.006
PMCID:
PMC3309189
Free in PMC on 2012/09/09
Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability
Juliane Hoyer, Arif B. Ekici, Sabine Endele, Bernt Popp, Christiane Zweier, Antje Wiesener, Eva Wohlleber, Andreas Dufke, Eva Rossier, Corinna Petsch, Markus Zweier, Ina Göhring, Alexander M. Zink, Gudrun Rappold, Evelin Schröck, Dagmar Wieczorek, Olaf Riess, Hartmut Engels, Anita Rauch, André Reis
Am J Hum Genet. 2012 March 9; 90(3): 565–572. doi: 10.1016/j.ajhg.2012.02.007
PMCID:
PMC3309205
Free in PMC on 2012/09/09

Erratum

Mitochondrial DNA and Y Chromosome Variation Provides Evidence for a Recent Common Ancestry between Native Americans and Indigenous Altaians
Matthew C. Dulik, Sergey I. Zhadanov, Ludmila P. Osipova, Ayken Askapuli, Lydia Gau, Omer Gokcumen, Samara Rubinstein, Theodore G. Schurr
Am J Hum Genet. 2012 March 9; 90(3): 573. doi: 10.1016/j.ajhg.2012.02.003
Corrects:
Am J Hum Genet. 2012 February 10; 90(2): 229–246.
PMCID:
PMC3309192
Free in PMC on 2012/09/09
Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics
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