Volume 85; Issue 6

The American Journal of Human Genetics

Volume 85; Issue 6

1

Genomic Dissection of Population Substructure of Han Chinese and Its Implication in Association Studies

Shuhua Xu, Xianyong Yin, Shilin Li, Wenfei Jin, Haiyi Lou, Ling Yang, Xiaohong Gong, Hongyan Wang, Yiping Shen, Xuedong Pan, Yungang He, Yajun Yang, Yi Wang, Wenqing Fu, Yu An, Jiucun Wang, Jingze Tan

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 913 KB

english, 2009

2

Genetic Structure of the Han Chinese Population Revealed by Genome-wide SNP Variation

Jieming Chen, Houfeng Zheng, Jin-Xin Bei, Liangdan Sun, Wei-hua Jia, Tao Li, Furen Zhang, Mark Seielstad, Yi-Xin Zeng, Xuejun Zhang, Jianjun Liu

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1011 KB

english, 2009

3

Using Lifetime Risk Estimates in Personal Genomic Profiles: Estimation of Uncertainty

Quanhe Yang, W. Dana Flanders, Ramal Moonesinghe, John P.A. Ioannidis, Idris Guessous, Muin J. Khoury

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 279 KB

english, 2009

4

Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects

Niki Tomas Loges, Heike Olbrich, Anita Becker-Heck, Karsten Häffner, Angelina Heer, Christina Reinhard, Miriam Schmidts, Andreas Kispert, Maimoona A. Zariwala, Margaret W. Leigh, Michael R. Knowles, H

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 894 KB

english, 2009

5

Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination

Joke Vandewalle, Hilde Van Esch, Karen Govaerts, Jelle Verbeeck, Christiane Zweier, Irene Madrigal, Montserrat Mila, Elly Pijkels, Isabel Fernandez, Jürgen Kohlhase, Christiane Spaich, Anita Rauch, Je

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.73 MB

english, 2009

6

Response to Yao et al.

Luísa Pereira, David C. Samuels

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 36 KB

english, 2009

7

mtDNA Data Mining in GenBank Needs Surveying

Yong-Gang Yao, Antonio Salas, Ian Logan, Hans-Jürgen Bandelt

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 116 KB

english, 2009

8

Genetic Landscape of Eurasia and “Admixture” in Uyghurs

Hui Li, Kelly Cho, Judith R. Kidd, Kenneth K. Kidd

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 791 KB

english, 2009

9

Response to Li et al.

Shuhua Xu, Li Jin

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 138 KB

english, 2009

10

The Biological Coherence of Human Phenome Databases

Martin Oti, Martijn A. Huynen, Han G. Brunner

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 595 KB

english, 2009

11

A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

Ganeshwaran H. Mochida, Muhammad Mahajnah, Anthony D. Hill, Lina Basel-Vanagaite, Danielle Gleason, R. Sean Hill, Adria Bodell, Moira Crosier, Rachel Straussberg, Christopher A. Walsh

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.01 MB

english, 2009

12

Short Telomeres are Sufficient to Cause the Degenerative Defects Associated with Aging

Mary Armanios, Jonathan K. Alder, Erin M. Parry, Baktiar Karim, Margaret A. Strong, Carol W. Greider

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 553 KB

english, 2009

13

Meta-Analysis of Genome-wide Association Studies with Overlapping Subjects

Dan-Yu Lin, Patrick F. Sullivan

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 220 KB

english, 2009

14

Haplotype Background, Repeat Length Evolution, and Huntington's Disease

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 260 KB

english, 2009

15

A Cytogenetic Abnormality and Rare Coding Variants Identify ABCA13 as a Candidate Gene in Schizophrenia, Bipolar Disorder, and Depression

Helen M. Knight, Benjamin S. Pickard, Alan Maclean, Mary P. Malloy, Dinesh C. Soares, Allan F. McRae, Alison Condie, Angela White, William Hawkins, Kevin McGhee, Margaret van Beck, Donald J. MacIntyre

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.02 MB

english, 2009

16

Simultaneous Genotype Calling and Haplotype Phasing Improves Genotype Accuracy and Reduces False-Positive Associations for Genome-wide Association Studies

Brian L. Browning, Zhaoxia Yu

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 638 KB

english, 2009

17

Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

Jan Hellemans, Marleen Simon, Annelies Dheedene, Yasemin Alanay, Ercan Mihci, Laila Rifai, Abdelaziz Sefiani, Yolande van Bever, Morteza Meradji, Andrea Superti-Furga, Geert Mortier

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 729 KB

english, 2009

18

Response to Falush: A Role for cis-Element Polymorphisms in HD

Simon C. Warby, Henk Visscher, Stefanie Butland, Christopher E. Pearson, Michael R. Hayden

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 63 KB

english, 2009

19

Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation

Orianne Philippe, Marlène Rio, Astrid Carioux, Jean-Marc Plaza, Philippe Guigue, Florence Molinari, Nathalie Boddaert, Christine Bole-Feysot, Patrick Nitschke, Asma Smahi, Arnold Munnich, Laurence Col

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 483 KB

english, 2009

20

Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary Dyskinesia

Philippe Duquesnoy, Estelle Escudier, Laetitia Vincensini, Judy Freshour, Anne-Marie Bridoux, André Coste, Antoine Deschildre, Jacques de Blic, Marie Legendre, Guy Montantin, Henrique Tenreiro, Anne-M

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 816 KB

english, 2009

21

Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

Asif Mir, Liana Kaufman, Abdul Noor, Mahdi M. Motazacker, Talal Jamil, Matloob Azam, Kimia Kahrizi, Muhammad Arshad Rafiq, Rosanna Weksberg, Tanveer Nasr, Farooq Naeem, Andreas Tzschach, Andreas W. Ku

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 650 KB

english, 2009

22

Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome

Munis Dündar, Thomas Müller, Qi Zhang, Jing Pan, Beat Steinmann, Julia Vodopiutz, Robert Gruber, Tohru Sonoda, Birgit Krabichler, Gerd Utermann, Jacques U. Baenziger, Lijuan Zhang, Andreas R. Janecke

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.32 MB

english, 2009

23

Remarkably Little Variation in Proteins Encoded by the Y Chromosome's Single-Copy Genes, Implying Effective Purifying Selection

Steve Rozen, Janet D. Marszalek, Raaji K. Alagappan, Helen Skaletsky, David C. Page

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 164 KB

english, 2009

24

This Month in Genetics

Kathryn B. Garber

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

25

This Month in The Journal

Kathryn D. Bungartz, Robin E. Williamson

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 47 KB

english, 2009

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