Volume 90; Issue 3

The American Journal of Human Genetics

Volume 90; Issue 3

1

Genome-wide Association Study of Three-Dimensional Facial Morphology Identifies a Variant in PAX3 Associated with Nasion Position

Lavinia Paternoster, Alexei I. Zhurov, Arshed M. Toma, John P. Kemp, Beate St. Pourcain, Nicholas J. Timpson, George McMahon, Wendy McArdle, Susan M. Ring, George Davey Smith, Stephen Richmond, David

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 924 KB

english, 2012

2

Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci

Richa Saxena, Clara C. Elbers, Yiran Guo, Inga Peter, Tom R. Gaunt, Jessica L. Mega, Matthew B. Lanktree, Archana Tare, Berta Almoguera Castillo, Yun R. Li, Toby Johnson, Marcel Bruinenberg, Diane Gil

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 408 KB

english, 2012

3

2011 William Allan Award: Development and Evolution

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 2.73 MB

english, 2012

4

The Basque Paradigm: Genetic Evidence of a Maternal Continuity in the Franco-Cantabrian Region since Pre-Neolithic Times

Doron M. Behar, Christine Harmant, Jeremy Manry, Mannis van Oven, Wolfgang Haak, Begoña Martinez-Cruz, Jasone Salaberria, Bernard Oyharçabal, Frédéric Bauduer, David Comas, Lluis Quintana-Murci

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 374 KB

english, 2012

5

Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB

Andreas Zankl, Emma L. Duncan, Paul J. Leo, Graeme R. Clark, Evgeny A. Glazov, Marie-Claude Addor, Troels Herlin, Chong Ae Kim, Bruno P. Leheup, Jim McGill, Steven McTaggart, Stephan Mittas, Anna L. M

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 903 KB

english, 2012

6

Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita

Marjolijn C.J. Jongmans, Eugene T.P. Verwiel, Yvonne Heijdra, Tom Vulliamy, Eveline J. Kamping, Jayne Y. Hehir-Kwa, Ernie M.H.F. Bongers, Rolph Pfundt, Liesbeth van Emst, Frank N. van Leeuwen, Koen L.

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.06 MB

english, 2012

7

Common SNP-Based Haplotype Analysis of the 4p16.3 Huntington Disease Gene Region

Jong-Min Lee, Tammy Gillis, Jayalakshmi Srinidhi Mysore, Eliana Marisa Ramos, Richard H. Myers, Michael R. Hayden, Patrick J. Morrison, Martha Nance, Christopher A. Ross, Russell L. Margolis, Ferdinan

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1017 KB

english, 2012

8

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

Krishna R. Veeramah, Janelle E. O'Brien, Miriam H. Meisler, Xiaoyang Cheng, Sulayman D. Dib-Hajj, Stephen G. Waxman, Dinesh Talwar, Santhosh Girirajan, Evan E. Eichler, Linda L. Restifo, Robert P. Eri

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 458 KB

english, 2012

9

Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome

Akio Tanaka, Sarah Weinel, Nikoletta Nagy, Mark O'Driscoll, Joey E. Lai-Cheong, Carol L. Kulp-Shorten, Alfred Knable, Gillian Carpenter, Sheila A. Fisher, Makiko Hiragun, Yuhki Yanase, Michihiro Hide,

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 877 KB

english, 2012

10

Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2

Ronen Spiegel, Ophry Pines, Asaf Ta-Shma, Efrat Burak, Avraham Shaag, Jonatan Halvardson, Shimon Edvardson, Muhammad Mahajna, Shamir Zenvirt, Ann Saada, Stavit Shalev, Lars Feuk, Orly Elpeleg

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 344 KB

english, 2012

11

Use of a Multiethnic Approach to Identify Rheumatoid- Arthritis-Susceptibility Loci, 1p36 and 17q12

Fina A.S. Kurreeman, Eli A. Stahl, Yukinori Okada, Katherine Liao, Dorothée Diogo, Soumya Raychaudhuri, Jan Freudenberg, Yuta Kochi, Nikolaos A. Patsopoulos, Namrata Gupta, Cynthia Sandor, So-Young Ba

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1023 KB

english, 2012

12

2011 William Allan Award Introduction: John M. Opitz

Maximilian Muenke

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 142 KB

english, 2012

13

Genetically Determined Partial Complement C4 Deficiency States Are Not Independent Risk Factors for SLE in UK and Spanish Populations

Lora Boteva, David L. Morris, Josefina Cortés-Hernández, Javier Martin, Timothy J. Vyse, Michelle M.A. Fernando

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 380 KB

english, 2012

14

Mutations in LOXHD1, a Recessive-Deafness Locus, Cause Dominant Late-Onset Fuchs Corneal Dystrophy

S. Amer Riazuddin, David S. Parker, Elyse J. McGlumphy, Edwin C. Oh, Benjamin W. Iliff, Thore Schmedt, Ula Jurkunas, Robert Schleif, Nicholas Katsanis, John D. Gottsch

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 853 KB

english, 2012

15

Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease

Marialuisa Quadri, Antonio Federico, Tianna Zhao, Guido J. Breedveld, Carla Battisti, Cathérine Delnooz, Lies-Anne Severijnen, Lara Di Toro Mammarella, Andrea Mignarri, Lucia Monti, Antioco Sanna, Pen

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.58 MB

english, 2012

16

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

Karin Tuschl, Peter T. Clayton, Sidney M. Gospe Jr., Shamshad Gulab, Shahnaz Ibrahim, Pratibha Singhi, Roosy Aulakh, Reinaldo T. Ribeiro, Orlando G. Barsottini, Maha S. Zaki, Maria Luz Del Rosario, Sa

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.09 MB

english, 2012

17

2011 Presidential Address: From Classroom to Courtroom to Clinic—Closing the Gaps in Human Genetics Education

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 204 KB

english, 2012

18

Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts

Anne Polvi, Tarja Linnankivi, Tero Kivelä, Riitta Herva, James P. Keating, Outi Mäkitie, Davide Pareyson, Leena Vainionpää, Jenni Lahtinen, Iiris Hovatta, Helena Pihko, Anna-Elina Lehesjoki

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 922 KB

english, 2012

19

Mitochondrial DNA and Y Chromosome Variation Provides Evidence for a Recent Common Ancestry between Native Americans and Indigenous Altaians

Matthew C. Dulik, Sergey I. Zhadanov, Ludmila P. Osipova, Ayken Askapuli, Lydia Gau, Omer Gokcumen, Samara Rubinstein, Theodore G. Schurr

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 24 KB

english, 2012

20

2011 ASHG Awards and Addresses

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 36 KB

english, 2012

21

Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling

Amy E. Merrill, Anna Sarukhanov, Pavel Krejci, Brian Idoni, Natalia Camacho, Kristine D. Estrada, Karen M. Lyons, Hannah Deixler, Haynes Robinson, David Chitayat, Cynthia J. Curry, Ralph S. Lachman, W

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.52 MB

english, 2012

22

Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome

Zhimiao Lin, Quan Chen, Mingyang Lee, Xu Cao, Jie Zhang, Donglai Ma, Long Chen, Xiaoping Hu, Huijun Wang, Xiaowen Wang, Peng Zhang, Xuanzhu Liu, Liping Guan, Yiquan Tang, Haizhen Yang, Ping Tu, Dingfa

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 934 KB

english, 2012

23

Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

Juliane Hoyer, Arif B. Ekici, Sabine Endele, Bernt Popp, Christiane Zweier, Antje Wiesener, Eva Wohlleber, Andreas Dufke, Eva Rossier, Corinna Petsch, Markus Zweier, Ina Göhring, Alexander M. Zink, Gu

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 704 KB

english, 2012

24

This Month in The Journal

Sara B. Cullinan

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 44 KB

english, 2012

25

2011 Introduction to Curt Stern Award

Aravinda Chakravarti

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 34 KB

english, 2012

26

This Month in Genetics

Kathryn B. Garber

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

27

2011 Curt Stern Award Address

David Altshuler

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 162 KB

english, 2012

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