Volume 90; Issue 6

The American Journal of Human Genetics

Volume 90; Issue 6

1

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

Dan Doherty, Albert E. Chudley, Gail Coghlan, Gisele E. Ishak, A. Micheil Innes, Edmond G. Lemire, R. Curtis Rogers, Aizeddin A. Mhanni, Ian G. Phelps, Steven J.M. Jones, Shing H. Zhan, Anthony P. Fej

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 494 KB

english, 2012

2

Scan-Statistic Approach Identifies Clusters of Rare Disease Variants in LRP2, a Gene Linked and Associated with Autism Spectrum Disorders, in Three Datasets

Iuliana Ionita-Laza, Vlad Makarov, Joseph D. Buxbaum

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 598 KB

english, 2012

3

Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

Daniele Ghezzi, Enrico Baruffini, Tobias B. Haack, Federica Invernizzi, Laura Melchionda, Cristina Dallabona, Tim M. Strom, Rossella Parini, Alberto B. Burlina, Thomas Meitinger, Holger Prokisch, Ilea

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 767 KB

english, 2012

4

Duplication of GTF2I Results in Separation Anxiety in Mice and Humans

Carolyn B. Mervis, Joana Dida, Emily Lam, Nicole A. Crawford-Zelli, Edwin J. Young, Danielle R. Henderson, Tuncer Onay, Colleen A. Morris, Janet Woodruff-Borden, John Yeomans, Lucy R. Osborne

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 295 KB

english, 2012

5

Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity

Stephen R. Williams, Deborah Zies, Sureni V. Mullegama, Michael S. Grotewiel, Sarah H. Elsea

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 498 KB

english, 2012

6

Cantú Syndrome Is Caused by Mutations in ABCC9

Bregje W.M. van Bon, Christian Gilissen, Dorothy K. Grange, Raoul C.M. Hennekam, Hülya Kayserili, Hartmut Engels, Heiko Reutter, John R. Ostergaard, Eva Morava, Konstantinos Tsiakas, Bertrand Isidor,

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 356 KB

english, 2012

7

Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity

Gabriela Lopez-Herrera, Giacomo Tampella, Qiang Pan-Hammarström, Peer Herholz, Claudia M. Trujillo-Vargas, Kanchan Phadwal, Anna Katharina Simon, Michel Moutschen, Amos Etzioni, Adi Mory, Izhak Srugo,

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.30 MB

english, 2012

8

Genome-wide Association Study Identifies Candidate Genes for Male Fertility Traits in Humans

Gülüm Kosova, Nicole M. Scott, Craig Niederberger, Gail S. Prins, Carole Ober

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 766 KB

english, 2012

9

Inclusion of Gene-Gene and Gene-Environment Interactions Unlikely to Dramatically Improve Risk Prediction for Complex Diseases

Hugues Aschard, Jinbo Chen, Marilyn C. Cornelis, Lori B. Chibnik, Elizabeth W. Karlson, Peter Kraft

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 797 KB

english, 2012

10

Evolutionary History of Copy-Number-Variable Locus for the Low-Affinity Fcγ Receptor: Mutation Rate, Autoimmune Disease, and the Legacy of Helminth Infection

Lee R. Machado, Robert J. Hardwick, Jennifer Bowdrey, Helen Bogle, Timothy J. Knowles, Manuela Sironi, Edward J. Hollox

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.00 MB

english, 2012

11

RAD21 Mutations Cause a Human Cohesinopathy

Matthew A. Deardorff, Jonathan J. Wilde, Melanie Albrecht, Emma Dickinson, Stephanie Tennstedt, Diana Braunholz, Maren Mönnich, Yuqian Yan, Weizhen Xu, María Concepcion Gil-Rodríguez, Dinah Clark, Hak

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.06 MB

english, 2012

12

The Contribution of CLIP2 Haploinsufficiency to the Clinical Manifestations of the Williams-Beuren Syndrome

Geert Vandeweyer, Nathalie Van der Aa, Edwin Reyniers, R. Frank Kooy

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 711 KB

english, 2012

13

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Katherine R. Smith, John Damiano, Silvana Franceschetti, Stirling Carpenter, Laura Canafoglia, Michela Morbin, Giacomina Rossi, Davide Pareyson, Sara E. Mole, John F. Staropoli, Katherine B. Sims, Jad

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 425 KB

english, 2012

14

Family-Based Association Studies for Next-Generation Sequencing

Yun Zhu, Momiao Xiong

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 619 KB

english, 2012

15

Genetic Architecture of MicroRNA Expression: Implications for the Transcriptome and Complex Traits

Eric R. Gamazon, Dana Ziliak, Hae Kyung Im, Bonnie LaCroix, Danny S. Park, Nancy J. Cox, R. Stephanie Huang

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 968 KB

english, 2012

16

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

Kyle C. Kurek, Valerie L. Luks, Ugur M. Ayturk, Ahmad I. Alomari, Steven J. Fishman, Samantha A. Spencer, John B. Mulliken, Margot E. Bowen, Guilherme L. Yamamoto, Harry P.W. Kozakewich, Matthew L. Wa

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 804 KB

english, 2012

17

This Month in The Journal

Sara B. Cullinan

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 42 KB

english, 2012

18

A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome

Mark J. Rieder, Glenn E. Green, Sarah S. Park, Brendan D. Stamper, Christopher T. Gordon, Jason M. Johnson, Christopher M. Cunniff, Joshua D. Smith, Sarah B. Emery, Stanislas Lyonnet, Jeanne Amiel, Mu

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 29 KB

english, 2012

19

This Month in Genetics

Kathryn B. Garber

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

20

Inclusion of Gene-Gene and Gene-Environment Interactions Unlikely to Dramatically Improve Risk Prediction for Complex Diseases

Hugues Aschard, Jinbo Chen, Marilyn C. Cornelis, Lori B. Chibnik, Elizabeth W. Karlson, Peter Kraft

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 28 KB

english, 2012

21

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

Matthew B. Lanktree, Yiran Guo, Muhammed Murtaza, Joseph T. Glessner, Swneke D. Bailey, N. Charlotte Onland-Moret, Guillaume Lettre, Halit Ongen, Ramakrishnan Rajagopalan, Toby Johnson, Haiqing Shen,

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 43 KB

english, 2012