Volume 86; Issue 5

The American Journal of Human Genetics

Volume 86; Issue 5

1

The Number of Markers in the HapMap Project: Some Notes on Chi-Square and Exact Tests for Hardy-Weinberg Equilibrium

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 305 KB

english, 2010

2

Detecting Coevolution through Allelic Association between Physically Unlinked Loci

Rori V. Rohlfs, Willie J. Swanson, Bruce S. Weir

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 530 KB

english, 2010

3

LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome

Yun Li, Barbara Pawlik, Nursel Elcioglu, Mona Aglan, Hülya Kayserili, Gökhan Yigit, Ferda Percin, Frances Goodman, Gudrun Nürnberg, Asim Cenani, Jill Urquhart, Boi-Dinh Chung, Samira Ismail, Khalda Am

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.35 MB

english, 2010

4

Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71

Darryl Y. Nishimura, Lisa M. Baye, Rahat Perveen, Charles C. Searby, Almudena Avila-Fernandez, Ines Pereiro, Carmen Ayuso, Diana Valverde, Paul N. Bishop, Forbes D.C. Manson, Jill Urquhart, Edwin M. S

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.40 MB

english, 2010

5

Value for Money? Array Genomic Hybridization for Diagnostic Testing for Genetic Causes of Intellectual Disability

Dean A. Regier, Jan M. Friedman, Carlo A. Marra

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 185 KB

english, 2010

6

Distinct Variants at LIN28B Influence Growth in Height from Birth to Adulthood

Elisabeth Widén, Samuli Ripatti, Diana L. Cousminer, Ida Surakka, Tuuli Lappalainen, Marjo-Riitta Järvelin, Johan G. Eriksson, Olli Raitakari, Veikko Salomaa, Ulla Sovio, Anna-Liisa Hartikainen, Annel

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 492 KB

english, 2010

7

Inferring Genetic Ancestry: Opportunities, Challenges, and Implications

Charmaine D. Royal, John Novembre, Stephanie M. Fullerton, David B. Goldstein, Jeffrey C. Long, Michael J. Bamshad, Andrew G. Clark

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 531 KB

english, 2010

8

Response to Graffelman: Tests of Hardy-Weinberg Equilibrium

David J. Cutler, Gonçalo R. Abecasis

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 58 KB

english, 2010

9

Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa

Rob W.J. Collin, Christine Safieh, Karin W. Littink, Stavit A. Shalev, Hanna J. Garzozi, Leah Rizel, Anan H. Abbasi, Frans P.M. Cremers, Anneke I. den Hollander, B. Jeroen Klevering, Tamar Ben-Yosef

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 715 KB

english, 2010

10

Gene Expression and Genetic Variation in Response to Endoplasmic Reticulum Stress in Human Cells

Beth A. Dombroski, Renuka R. Nayak, Kathryn G. Ewens, Wendy Ankener, Vivian G. Cheung, Richard S. Spielman

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 799 KB

english, 2010

11

Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

Erin L. Heinzen, Rodney A. Radtke, Thomas J. Urban, Gianpiero L. Cavalleri, Chantal Depondt, Anna C. Need, Nicole M. Walley, Paola Nicoletti, Dongliang Ge, Claudia B. Catarino, John S. Duncan, Dalia K

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 692 KB

english, 2010

12

Tuba8 Is Expressed at Low Levels in the Developing Mouse and Human Brain

Andreas Braun, Martin Breuss, Marion C. Salzer, Jonathan Flint, Nicholas J. Cowan, David A. Keays

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 332 KB

english, 2010

13

Response to Braun et al.

Eamonn Sheridan, David T. Bonthron, Mohammad R. Abdollahi

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 45 KB

english, 2010

14

A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa

S. Amer Riazuddin, Muhammad Iqbal, Yue Wang, Tomohiro Masuda, Yuhng Chen, Sara Bowne, Lori S. Sullivan, Naushin H. Waseem, Shomi Bhattacharya, Stephen P. Daiger, Kang Zhang, Shaheen N. Khan, Sheikh Ri

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 994 KB

english, 2010

15

Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

Elif Uz, Yasemin Alanay, Dilek Aktas, Ibrahim Vargel, Safak Gucer, Gokhan Tuncbilek, Ferdinand von Eggeling, Engin Yilmaz, Ozgur Deren, Nicole Posorski, Hilal Ozdag, Thomas Liehr, Sevim Balci, Mehmet

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 866 KB

english, 2010

16

Interpretation of Association Signals and Identification of Causal Variants from Genome-wide Association Studies

Kai Wang, Samuel P. Dickson, Catherine A. Stolle, Ian D. Krantz, David B. Goldstein, Hakon Hakonarson

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 289 KB

english, 2010

17

A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss

Aslı Sırmacı, Seyra Erbek, Justin Price, Mingqian Huang, Duygu Duman, F. Başak Cengiz, Güney Bademci, Suna Tokgöz-Yılmaz, Burcu Hişmi, Hilal Özdağ, Banu Öztürk, Sevsen Kulaksızoğlu, Erkan Yıldırım, Ha

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.11 MB

english, 2010

18

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

David T. Miller, Margaret P. Adam, Swaroop Aradhya, Leslie G. Biesecker, Arthur R. Brothman, Nigel P. Carter, Deanna M. Church, John A. Crolla, Evan E. Eichler, Charles J. Epstein, W. Andrew Faucett,

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 553 KB

english, 2010

19

Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate

Jennifer J. Johnston, Jamie K. Teer, Praveen F. Cherukuri, Nancy F. Hansen, Stacie K. Loftus, Karen Chong, James C. Mullikin, Leslie G. Biesecker

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 304 KB

english, 2010

20

This Month in Genetics

Kathryn B. Garber

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 51 KB

english, 2010

21

This Month in The Journal

Kathryn D. Bungartz, Robin E. Williamson

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 46 KB

english, 2010

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