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Volume 82(2);  2008 Feb 8

Editors' Corner

This Month in the Journal
Robin E. Williamson
Am J Hum Genet. 2008 Feb 8; 82(2): 257–258. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2008.01.003
PMCID:
PMC2427251
Article PDF–45K
This Month in Genetics
Kathryn B. Garber
Am J Hum Genet. 2008 Feb 8; 82(2): 259–260. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2008.01.004
PMCID:
PMC2427252
Article PDF–47K

Review

Neocentromeres: New Insights into Centromere Structure, Disease Development, and Karyotype Evolution
Owen J. Marshall, Anderly C. Chueh, Lee H. Wong, K.H. Andy Choo
Am J Hum Genet. 2008 Feb 8; 82(2): 261–282. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.11.009
PMCID:
PMC2427194
Abstract Article PDF–1.0M

Articles

Variation in the miRNA-433 Binding Site of FGF20 Confers Risk for Parkinson Disease by Overexpression of α-Synuclein
Gaofeng Wang, Joelle M. van der Walt, Gregory Mayhew, Yi-Ju Li, Stephan Züchner, William K. Scott, Eden R. Martin, Jeffery M. Vance
Am J Hum Genet. 2008 Feb 8; 82(2): 283–289. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.09.021
PMCID:
PMC2427225
Abstract Article PDF–495K
Estimating Local Ancestry in Admixed Populations
Sriram Sankararaman, Srinath Sridhar, Gad Kimmel, Eran Halperin
Am J Hum Genet. 2008 Feb 8; 82(2): 290–303. Published online 2008 Feb 2. doi: 10.1016/j.ajhg.2007.09.022
PMCID:
PMC2664993
Abstract Article PDF–873K
Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways
Preeti Bakrania, Maria Efthymiou, Johannes C. Klein, Alison Salt, David J. Bunyan, Alex Wyatt, Chris P. Ponting, Angela Martin, Steven Williams, Victoria Lindley, Joanne Gilmore, Marie Restori, Anthony G. Robson, Magella M. Neveu, Graham E. Holder, J Richard O. Collin, David O. Robinson, Peter Farndon, Heidi Johansen-Berg, Dianne Gerrelli, Nicola K. Ragge
Am J Hum Genet. 2008 Feb 8; 82(2): 304–319. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.09.023
PMCID:
PMC2427285
Abstract Article PDF–1.7M
Gross Deletions Involving IGHM, BTK, or Artemis: A Model for Genomic Lesions Mediated by Transposable Elements
Menno C. van Zelm, Corinne Geertsema, Nicole Nieuwenhuis, Dick de Ridder, Mary Ellen Conley, Claudine Schiff, Ilhan Tezcan, Ewa Bernatowska, Nico G. Hartwig, Elisabeth A.M. Sanders, Jiri Litzman, Irina Kondratenko, Jacques J.M. van Dongen, Mirjam van der Burg
Am J Hum Genet. 2008 Feb 8; 82(2): 320–332. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.10.011
PMCID:
PMC2427306
Abstract Article PDF–1.3M
Selection against Pathogenic mtDNA Mutations in a Stem Cell Population Leads to the Loss of the 3243A→G Mutation in Blood
Harsha Karur Rajasimha, Patrick F. Chinnery, David C. Samuels
Am J Hum Genet. 2008 Feb 8; 82(2): 333–343. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.10.007
PMCID:
PMC2427290
Abstract Article PDF–364K
Renal Aplasia in Humans Is Associated with RET Mutations
Michael A. Skinner, Shawn D. Safford, Justin G. Reeves, Margaret E. Jackson, Alex J. Freemerman
Am J Hum Genet. 2008 Feb 8; 82(2): 344–351. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.10.008
PMCID:
PMC2427293
Abstract Article PDF–406K
A Unified Association Analysis Approach for Family and Unrelated Samples Correcting for Stratification
Xiaofeng Zhu, Shengchao Li, Richard S. Cooper, Robert C. Elston
Am J Hum Genet. 2008 Feb 8; 82(2): 352–365. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.10.009
PMCID:
PMC2427300
Abstract Article PDF–1.2M
Identification of Somatic Chromosomal Abnormalities in Hypothalamic Hamartoma Tissue at the GLI3 Locus
David W. Craig, Abraham Itty, Corrie Panganiban, Szabolcs Szelinger, Michael C. Kruer, Aswin Sekar, David Reiman, Vinodh Narayanan, Dietrich A. Stephan, John F. Kerrigan
Am J Hum Genet. 2008 Feb 8; 82(2): 366–374. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.10.006
PMCID:
PMC2427231
Abstract Article PDF–735K
Accommodating Linkage Disequilibrium in Genetic-Association Analyses via Ridge Regression
Nathalie Malo, Ondrej Libiger, Nicholas J. Schork
Am J Hum Genet. 2008 Feb 8; 82(2): 375–385. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.10.012
PMCID:
PMC2427310
Abstract Article PDF–963K
A Powerful and Flexible Multilocus Association Test for Quantitative Traits
Lydia Coulter Kwee, Dawei Liu, Xihong Lin, Debashis Ghosh, Michael P. Epstein
Am J Hum Genet. 2008 Feb 8; 82(2): 386–397. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.10.010
PMCID:
PMC2664991
Abstract Article PDF–1.2M
Mechanisms and Consequences of Small Supernumerary Marker Chromosomes: From Barbara McClintock to Modern Genetic-Counseling Issues
Erin L. Baldwin, Lorraine F. May, April N. Justice, Christa L. Martin, David H. Ledbetter
Am J Hum Genet. 2008 Feb 8; 82(2): 398–410. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.10.013
PMCID:
PMC2427313
Abstract Article PDF–486K
Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 as a Human Iris Color Gene
Manfred Kayser, Fan Liu, A. Cecile J.W. Janssens, Fernando Rivadeneira, Oscar Lao, Kate van Duijn, Mark Vermeulen, Pascal Arp, Mila M. Jhamai, Wilfred F.J. van IJcken, Johan T. den Dunnen, Simon Heath, Diana Zelenika, Dominiek D.G. Despriet, Caroline C.W. Klaver, Johannes R. Vingerling, Paulus T.V.M. de Jong, Albert Hofman, Yurii S. Aulchenko, Andre G. Uitterlinden, Ben A. Oostra, Cornelia M. van Duijn
Am J Hum Genet. 2008 Feb 8; 82(2): 411–423. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.10.003
Correction in:
Am J Hum Genet. 2008 Mar 3; 82(3): 802–804.
PMCID:
PMC2427174
Abstract Article PDF–1.4M
A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color
Richard A. Sturm, David L. Duffy, Zhen Zhen Zhao, Fabio P.N. Leite, Mitchell S. Stark, Nicholas K. Hayward, Nicholas G. Martin, Grant W. Montgomery
Am J Hum Genet. 2008 Feb 8; 82(2): 424–431. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.11.005
PMCID:
PMC2427173
Abstract Article PDF–1016K
Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation
Guy Froyen, Mark Corbett, Joke Vandewalle, Irma Jarvela, Owen Lawrence, Cliff Meldrum, Marijke Bauters, Karen Govaerts, Lucianne Vandeleur, Hilde Van Esch, Jamel Chelly, Damien Sanlaville, Hans van Bokhoven, Hans-Hilger Ropers, Frederic Laumonnier, Enzo Ranieri, Charles E. Schwartz, Fatima Abidi, Patrick S. Tarpey, P. Andrew Futreal, Annabel Whibley, F. Lucy Raymond, Michael R. Stratton, Jean-Pierre Fryns, Rodney Scott, Maarit Peippo, Marjatta Sipponen, Michael Partington, David Mowat, Michael Field, Anna Hackett, Peter Marynen, Gillian Turner, Jozef Gécz
Am J Hum Genet. 2008 Feb 8; 82(2): 432–443. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.11.002
PMCID:
PMC2426915
Abstract Article PDF–1.3M
Simple and Efficient Analysis of Disease Association with Missing Genotype Data
D.Y. Lin, Y. Hu, B.E. Huang
Am J Hum Genet. 2008 Feb 8; 82(2): 444–452. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.11.004
PMCID:
PMC2427170
Abstract Article PDF–729K
On the Use of General Control Samples for Genome-wide Association Studies: Genetic Matching Highlights Causal Variants
Diana Luca, Steven Ringquist, Lambertus Klei, Ann B. Lee, Christian Gieger, H.-Erich Wichmann, Stefan Schreiber, Michael Krawczak, Ying Lu, Alexis Styche, Bernie Devlin, Kathryn Roeder, Massimo Trucco
Am J Hum Genet. 2008 Feb 8; 82(2): 453–463. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.11.003
PMCID:
PMC2427172
Abstract Article PDF–471K
Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders
Anne Michalk, Sigmar Stricker, Jutta Becker, Rosemarie Rupps, Tapio Pantzar, Jan Miertus, Giovanni Botta, Valeria G. Naretto, Catrin Janetzki, Nausheen Yaqoob, Claus-Eric Ott, Dominik Seelow, Dagmar Wieczorek, Britta Fiebig, Brunhilde Wirth, Markus Hoopmann, Marisa Walther, Friederike Körber, Markus Blankenburg, Stefan Mundlos, Raoul Heller, Katrin Hoffmann
Am J Hum Genet. 2008 Feb 8; 82(2): 464–476. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.11.006
PMCID:
PMC2427255
Abstract Article PDF–2.1M
Structural Variation of Chromosomes in Autism Spectrum Disorder
Christian R. Marshall, Abdul Noor, John B. Vincent, Anath C. Lionel, Lars Feuk, Jennifer Skaug, Mary Shago, Rainald Moessner, Dalila Pinto, Yan Ren, Bhooma Thiruvahindrapduram, Andreas Fiebig, Stefan Schreiber, Jan Friedman, Cees E.J. Ketelaars, Yvonne J. Vos, Can Ficicioglu, Susan Kirkpatrick, Rob Nicolson, Leon Sloman, Anne Summers, Clare A. Gibbons, Ahmad Teebi, David Chitayat, Rosanna Weksberg, Ann Thompson, Cathy Vardy, Vicki Crosbie, Sandra Luscombe, Rebecca Baatjes, Lonnie Zwaigenbaum, Wendy Roberts, Bridget Fernandez, Peter Szatmari, Stephen W. Scherer
Am J Hum Genet. 2008 Feb 8; 82(2): 477–488. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.12.009
PMCID:
PMC2426913
Abstract Article PDF–590K

Reports

FAM83H Mutations in Families with Autosomal-Dominant Hypocalcified Amelogenesis Imperfecta
Jung-Wook Kim, Sook-Kyung Lee, Zang Hee Lee, Joo-Cheol Park, Kyung-Eun Lee, Myoung-Hwa Lee, Jong-Tae Park, Byoung-Moo Seo, Jan C.-C. Hu, James P. Simmer
Am J Hum Genet. 2008 Feb 8; 82(2): 489–494. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.09.020
PMCID:
PMC2427219
Abstract Article PDF–544K
Warfarin Pharmacogenetics: CYP2C9 and VKORC1 Genotypes Predict Different Sensitivity and Resistance Frequencies in the Ashkenazi and Sephardi Jewish Populations
Stuart A. Scott, Lisa Edelmann, Ruth Kornreich, Robert J. Desnick
Am J Hum Genet. 2008 Feb 8; 82(2): 495–500. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.10.002
PMCID:
PMC2427171
Abstract Article PDF–122K
TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita
Sharon A. Savage, Neelam Giri, Gabriela M. Baerlocher, Nick Orr, Peter M. Lansdorp, Blanche P. Alter
Am J Hum Genet. 2008 Feb 8; 82(2): 501–509. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.10.004
PMCID:
PMC2427222
Abstract Article PDF–784K
Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration
Maria K. Tsaousidou, Karim Ouahchi, Tom T. Warner, Yi Yang, Michael A. Simpson, Nigel G. Laing, Philip A. Wilkinson, Ricardo E. Madrid, Heema Patel, Faycal Hentati, Michael A. Patton, Afif Hentati, Philippa J. Lamont, Teepu Siddique, Andrew H. Crosby
Am J Hum Genet. 2008 Feb 8; 82(2): 510–515. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.10.001
PMCID:
PMC2426914
Abstract Article PDF–488K
Basal Laminar Drusen Caused by Compound Heterozygous Variants in the CFH Gene
Camiel J.F. Boon, B. Jeroen Klevering, Carel B. Hoyng, Marijke N. Zonneveld-Vrieling, Sander B. Nabuurs, Ellen Blokland, Frans P.M. Cremers, Anneke I. den Hollander
Am J Hum Genet. 2008 Feb 8; 82(2): 516–523. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.11.007
PMCID:
PMC2427272
Abstract Article PDF–934K

Letters to the Editor

Comment on a Simple and Improved Correction for Population Stratification
Seunggeun Lee, Patrick F. Sullivan, Fei Zou, Fred A. Wright
Am J Hum Genet. 2008 Feb 8; 82(2): 524–526. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.10.014
PMCID:
PMC2427240
Article PDF–81K
Response to Lee et al.
Michael P. Epstein, Andrew S. Allen, Glen A. Satten
Am J Hum Genet. 2008 Feb 8; 82(2): 526–528. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.11.010
PMCID:
PMC2427239
Article PDF–86K
XMCPDT Does Have Correct Type I Error Rates
Jie Ding, Shili Lin
Am J Hum Genet. 2008 Feb 8; 82(2): 528–530. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.11.011
PMCID:
PMC2427256
Article PDF–267K
Response to Ding and Lin
Ren-Hua Chung, Richard W. Morris, Eden R. Martin
Am J Hum Genet. 2008 Feb 8; 82(2): 530–531. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2008.01.001
PMCID:
PMC2427244
Article PDF–79K

Announcement

Course and Employment Opportunities
Am J Hum Genet. 2008 Feb 8; 82(2): 533–534. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2008.01.005
PMCID:
PMC2427254
Article PDF–49K

Correction

Admixture Mapping of White Cell Count: Genetic Locus Responsible for Lower White Blood Cell Count in the Health ABC and Jackson Heart Studies
Michael A. Nalls, James G. Wilson, Nick J. Patterson, Arti Tandon, Joseph M. Zmuda, Scott Huntsman, Melissa Garcia, Donglei Hu, Rongling Li, Brock A. Beamer, Kushang V. Patel, Ermeg L. Akylbekova, Joe C. Files, Cheryl L. Hardy, Sarah G. Buxbaum, Herman A. Taylor, David Reich, Tamara B. Harris, Elad Ziv
Am J Hum Genet. 2008 Feb 8; 82(2): 533–534. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2008.01.002
Corrects:
Am J Hum Genet. 2008 Jan 10; 82(1): 81–87.
PMCID:
PMC2427246
Correction PDF–23K
Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics
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