Volume 86; Issue 6

The American Journal of Human Genetics

Volume 86; Issue 6

1

Sex-Averaged Recombination and Mutation Rates on the X Chromosome: A Comment on Labuda et al.

Kirk E. Lohmueller, Jeremiah D. Degenhardt, Alon Keinan

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 148 KB

english, 2010

2

Pooled Association Tests for Rare Variants in Exon-Resequencing Studies

Alkes L. Price, Gregory V. Kryukov, Paul I.W. de Bakker, Shaun M. Purcell, Jeff Staples, Lee-Jen Wei, Shamil R. Sunyaev

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 232 KB

english, 2010

3

GJC2 Missense Mutations Cause Human Lymphedema

Robert E. Ferrell, Catherine J. Baty, Mark A. Kimak, Jenny M. Karlsson, Elizabeth C. Lawrence, Marlise Franke-Snyder, Stephen D. Meriney, Eleanor Feingold, David N. Finegold

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.05 MB

english, 2010

4

Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans

Bernard Thienpont, Litu Zhang, Alex V. Postma, Jeroen Breckpot, Léon-Charles Tranchevent, Peter Van Loo, Kjeld Møllgård, Niels Tommerup, Iben Bache, Zeynep Tümer, Klaartje van Engelen, Björn Menten, G

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 986 KB

english, 2010

5

Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

Joanna Walczak-Sztulpa, Jonathan Eggenschwiler, Daniel Osborn, Desmond A. Brown, Francesco Emma, Claus Klingenberg, Raoul C. Hennekam, Giuliano Torre, Masoud Garshasbi, Andreas Tzschach, Malgorzata Sz

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.04 MB

english, 2010

6

Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

Hirotomo Saitsu, Jun Tohyama, Tatsuro Kumada, Kiyoshi Egawa, Keisuke Hamada, Ippei Okada, Takeshi Mizuguchi, Hitoshi Osaka, Rie Miyata, Tomonori Furukawa, Kazuhiro Haginoya, Hideki Hoshino, Tomohide G

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.54 MB

english, 2010

7

Insights into Colon Cancer Etiology via a Regularized Approach to Gene Set Analysis of GWAS Data

Lin S. Chen, Carolyn M. Hutter, John D. Potter, Yan Liu, Ross L. Prentice, Ulrike Peters, Li Hsu

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 226 KB

english, 2010

8

Abraham's Children in the Genome Era: Major Jewish Diaspora Populations Comprise Distinct Genetic Clusters with Shared Middle Eastern Ancestry

Gil Atzmon, Li Hao, Itsik Pe'er, Christopher Velez, Alexander Pearlman, Pier Francesco Palamara, Bernice Morrow, Eitan Friedman, Carole Oddoux, Edward Burns, Harry Ostrer

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 817 KB

english, 2010

9

Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

Junfeng Pang, Shu Zhang, Ping Yang, Bobbilynn Hawkins-Lee, Jixin Zhong, Yushan Zhang, Bernardo Ochoa, Jose A.G. Agundez, Marie-Antoinette Voelckel, Weikuan Gu, Wen-Cheng Xiong, Lin Mei, Jin-Xiong She,

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 513 KB

english, 2010

10

Identification of a Kir3.4 Mutation in Congenital Long QT Syndrome

Yanzong Yang, Yiqing Yang, Bo Liang, Jinqiu Liu, Jun Li, Morten Grunnet, Søren-Peter Olesen, Hanne B. Rasmussen, Patrick T. Ellinor, Lianjun Gao, Xiaoping Lin, Li Li, Lei Wang, Junjie Xiao, Yi Liu, Yi

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.49 MB

english, 2010

11

Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

Feng Zhang, Pavel Seeman, Pengfei Liu, Marian A.J. Weterman, Claudia Gonzaga-Jauregui, Charles F. Towne, Sat Dev Batish, Els De Vriendt, Peter De Jonghe, Bernd Rautenstrauss, Klaus-Henning Krause, Meh

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 998 KB

english, 2010

12

Powerful SNP-Set Analysis for Case-Control Genome-wide Association Studies

Michael C. Wu, Peter Kraft, Michael P. Epstein, Deanne M. Taylor, Stephen J. Chanock, David J. Hunter, Xihong Lin

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 902 KB

english, 2010

13

A Definitive Haplotype Map as Determined by Genotyping Duplicated Haploid Genomes Finds a Predominant Haplotype Preference at Copy-Number Variation Events

Yoji Kukita, Koji Yahara, Tomoko Tahira, Koichiro Higasa, Miki Sonoda, Ken Yamamoto, Kiyoko Kato, Norio Wake, Kenshi Hayashi

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 870 KB

english, 2010

14

Evolutionary and Functional Analysis of Celiac Risk Loci Reveals SH2B3 as a Protective Factor against Bacterial Infection

Alexandra Zhernakova, Clara C. Elbers, Bart Ferwerda, Jihane Romanos, Gosia Trynka, Patrick C. Dubois, Carolien G.F. de Kovel, Lude Franke, Marije Oosting, Donatella Barisani, Maria Teresa Bardella, L

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 511 KB

english, 2010

15

Principal-Component Analysis for Assessment of Population Stratification in Mitochondrial Medical Genetics

Alessandro Biffi, Christopher D. Anderson, Michael A. Nalls, Rosanna Rahman, Akshata Sonni, Lynelle Cortellini, Natalia S. Rost, Mar Matarin, Dena G. Hernandez, Anna Plourde, Paul I.W. de Bakker, Owen

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 744 KB

english, 2010

16

Mutations in HPSE2 Cause Urofacial Syndrome

Sarah B. Daly, Jill E. Urquhart, Emma Hilton, Edward A. McKenzie, Richard A. Kammerer, Malcolm Lewis, Bronwyn Kerr, Helen Stuart, Dian Donnai, David A. Long, Berk Burgu, Ozgu Aydogdu, Murat Derbent, S

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 810 KB

english, 2010

17

The Woman Who Walked into the Sea: Huntington's and the Making of a Genetic Disease

Wendy R. Uhlmann

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 37 KB

english, 2010

18

This Month in Genetics

Kathryn B. Garber

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 53 KB

english, 2010

19

Female-to-Male Breeding Ratio in Modern Humans—an Analysis Based on Historical Recombinations

Damian Labuda, Jean-Francois Lefebvre, Phillipe Nadeau, Marie-Helene Roy-Gagnon

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 26 KB

english, 2010

20

Response to Lohmueller et al.

Damian Labuda, Jean-François Lefebvre, Marie-Hélène Roy-Gagnon

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 47 KB

english, 2010

21

Pooled Association Tests for Rare Variants in Exon-Resequencing Studies

Alkes L. Price, Gregory V. Kryukov, Paul I.W. de Bakker, Shaun M. Purcell, Jeff Staples, Lee-Jen Wei, Shamil R. Sunyaev

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 26 KB

english, 2010

22

This Month in The Journal

Kathryn D. Bungartz, Robin E. Williamson

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 45 KB

english, 2010

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