Volume 81; Issue 5

The American Journal of Human Genetics

Volume 81; Issue 5

1

A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes

Douglas F. Easton, Amie M. Deffenbaugh, Dmitry Pruss, Cynthia Frye, Richard J. Wenstrup, Kristina Allen-Brady, Sean V. Tavtigian, Alvaro N.A. Monteiro, Edwin S. Iversen, Fergus J. Couch, David E. Gold

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 729 KB

english, 2007

2

A Randomization Test for Controlling Population Stratification in Whole-Genome Association Studies

Gad Kimmel, Michael I. Jordan, Eran Halperin, Ron Shamir, Richard M. Karp

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 664 KB

english, 2007

3

Haplotype-Based Association Analysis via Variance-Components Score Test

Jung-Ying Tzeng, Daowen Zhang

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 1.03 MB

english, 2007

4

Family-Based Association Tests for Genomewide Association Scans

Wei-Min Chen, Gonçalo R. Abecasis

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 564 KB

english, 2007

5

Estimating Prevalence, False-Positive Rate, and False-Negative Rate with Use of Repeated Testing When True Responses Are Unknown

Johanna Jakobsdottir, Daniel E. Weeks

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 251 KB

english, 2007

6

A Novel Dominant Mutation in Plakoglobin Causes Arrhythmogenic Right Ventricular Cardiomyopathy

Angeliki Asimaki, Petros Syrris, Thomas Wichter, Paul Matthias, Jeffrey E. Saffitz, William J. McKenna

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 8.01 MB

english, 2007

7

The First Genomewide Interaction and Locus-Heterogeneity Linkage Scan in Bipolar Affective Disorder: Strong Evidence of Epistatic Effects between Loci on Chromosomes 2q and 6q

Rami Abou Jamra, Robert Fuerst, Radka Kaneva, Guillermo Orozco Diaz, Fabio Rivas, Fermin Mayoral, Eudoxia Gay, Sebastian Sans, Maria Jose González, Susana Gil, Francisco Cabaleiro, Francisco del Rio,

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 6.56 MB

english, 2007

8

Information-Theoretic Metrics for Visualizing Gene-Environment Interactions

Pritam Chanda, Aidong Zhang, Daniel Brazeau, Lara Sucheston, Jo L. Freudenheim, Christine Ambrosone, Murali Ramanathan

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 6.97 MB

english, 2007

9

Predicted Effects of Missense Mutations on Native-State Stability Account for Phenotypic Outcome in Phenylketonuria, a Paradigm of Misfolding Diseases

Angel L. Pey, François Stricher, Luis Serrano, Aurora Martinez

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 3.71 MB

english, 2007

10

Fine Mapping versus Replication in Whole-Genome Association Studies

Geraldine M. Clarke, Kim W. Carter, Lyle J. Palmer, Andrew P. Morris, Lon R. Cardon

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 1.91 MB

english, 2007

11

Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy

Christina F. Chakarova, Myrto G. Papaioannou, Hemant Khanna, Irma Lopez, Naushin Waseem, Amna Shah, Torsten Theis, James Friedman, Cecilia Maubaret, Kinga Bujakowska, Brotati Veraitch, Mai M. Abd El-A

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 3.33 MB

english, 2007

12

Neurologic, Gastric, and Opthalmologic Pathologies in a Murine Model of Mucolipidosis Type IV

Bhuvarahamurthy Venugopal, Marsha F. Browning, Cyntia Curcio-Morelli, Andrea Varro, Norman Michaud, Nanda Nanthakumar, Steven U. Walkley, James Pickel, Susan A. Slaugenhaupt

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 13.27 MB

english, 2007

13

Rapid and Accurate Haplotype Phasing and Missing-Data Inference for Whole-Genome Association Studies By Use of Localized Haplotype Clustering

Sharon R. Browning, Brian L. Browning

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 558 KB

english, 2007

14

Significant Correction of Disease after Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia

Margret L. Casal, John R. Lewis, Elizabeth A. Mauldin, Aubry Tardivel, Karine Ingold, Manuel Favre, Fabrice Paradies, Stéphane Demotz, Olivier Gaide, Pascal Schneider

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 3.64 MB

english, 2007

15

Enhanced Response to Enzyme Replacement Therapy in Pompe Disease after the Induction of Immune Tolerance

Baodong Sun, Andrew Bird, Sarah P. Young, Priya S. Kishnani, Y.-T. Chen, Dwight D. Koeberl

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 5.05 MB

english, 2007

16

Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development

M.A. Simpson, R. Hsu, L.S. Keir, J. Hao, G. Sivapalan, L.M. Ernst, E.H. Zackai, L.I. Al-Gazali, G. Hulskamp, H.M. Kingston, T.E. Prescott, A. Ion, M.A. Patton, V. Murday, A. George, A.H. Crosby

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 9.47 MB

english, 2007

17

Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy

Heather C. Mefford, Séverine Clauin, Andrew J. Sharp, Rikke S. Moller, Reinhard Ullmann, Raj Kapur, Dan Pinkel, Gregory M. Cooper, Mario Ventura, H. Hilger Ropers, Niels Tommerup, Evan E. Eichler, Chr

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 15.80 MB

english, 2007

18

Loss-of-Function Mutations in Growth Differentiation Factor-1 (GDF1) Are Associated with Congenital Heart Defects in Humans

J.D. Karkera, J.S. Lee, E. Roessler, S. Banerjee-Basu, M.V. Ouspenskaia, J. Mez, E. Goldmuntz, P. Bowers, J. Towbin, J.W. Belmont, A.D. Baxevanis, A.F. Schier, M. Muenke

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 12.20 MB

english, 2007

19

Erratum

Journal:

The American Journal of Human Genetics

Year:

2007

File:

PDF, 62 KB

2007

20

Genome Partitioning of Genetic Variation for Height from 11,214 Sibling Pairs

Peter M. Visscher, Stuart Macgregor, Beben Benyamin, Gu Zhu, Scott Gordon, Sarah Medland, William G. Hill, Jouke-Jan Hottenga, Gonneke Willemsen, Dorret I. Boomsma, Yao-Zhong Liu, Hong-Wen Deng, Grant

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 301 KB

english, 2007

21

This Month in the Journal

Robin E. Williamson

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 118 KB

english, 2007

22

Engaging the ASHG Membership

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 84 KB

english, 2007

23

Announcements

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 85 KB

english, 2007

24

Specific Sequence Variations within the 4q35 Region Are Associated with Facioscapulohumeral Muscular Dystrophy

Richard J.L.F. Lemmers, Mariëlle Wohlgemuth, Kristiaan J. van der Gaag, Patrick J. van der Vliet, Corrie M.M. van Teijlingen, Peter de Knijff, George W. Padberg, Rune R. Frants, Silvère M. van der Maa

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 3.64 MB

english, 2007

25

Phylogeographic Analysis of Mitochondrial DNA in Northern Asian Populations

Miroslava Derenko, Boris Malyarchuk, Tomasz Grzybowski, Galina Denisova, Irina Dambueva, Maria Perkova, Choduraa Dorzhu, Faina Luzina, Hong Kyu Lee, Tomas Vanecek, Richard Villems, Ilia Zakharov

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 7.44 MB

english, 2007

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