Volume 93; Issue 6

The American Journal of Human Genetics

Volume 93; Issue 6

1

Morbid Obesity Resulting from Inactivation of the Ciliary Protein CEP19 in Humans and Mice

Shalata, Adel, Ramirez, Maria C., Desnick, Robert J., Priedigkeit, Nolan, Buettner, Christoph, Lindtner, Claudia, Mahroum, Mohammed, Abdul-Ghani, Muhammad, Dong, Feng, Arar, Nazik, Camacho-Vanegas, Ol

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.45 MB

english, 2013

2

Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1

Meyer, Kerstin B., O’Reilly, Martin, Michailidou, Kyriaki, Carlebur, Saskia, Edwards, Stacey L., French, Juliet D., Prathalingham, Radhika, Dennis, Joe, Bolla, Manjeet K., Wang, Qin, de Santiago, Ines

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.80 MB

english, 2013

3

Whole-Exome Sequencing of 2,000 Danish Individuals and the Role of Rare Coding Variants in Type 2 Diabetes

Lohmueller, Kirk E., Sparsø, Thomas, Li, Qibin, Andersson, Ehm, Korneliussen, Thorfinn, Albrechtsen, Anders, Banasik, Karina, Grarup, Niels, Hallgrimsdottir, Ingileif, Kiil, Kristoffer, Kilpeläinen, T

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 476 KB

english, 2013

4

Genetic and Epigenetic Regulation of Human lincRNA Gene Expression

Popadin, Konstantin, Gutierrez-Arcelus, Maria, Dermitzakis, Emmanouil T., Antonarakis, Stylianos E.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.19 MB

english, 2013

5

Joint Linkage and Association Analysis with Exome Sequence Data Implicates SLC25A40 in Hypertriglyceridemia

Rosenthal, Elisabeth A., Ranchalis, Jane, Crosslin, David R., Burt, Amber, Brunzell, John D., Motulsky, Arno G., Nickerson, Deborah A., Wijsman, Ellen M., Jarvik, Gail P.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 242 KB

english, 2013

6

Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia

Bhatia, Shipra, Bengani, Hemant, Fish, Margaret, Brown, Alison, Divizia, Maria Teresa, de Marco, Riccardo, Damante, Guiseppe, Grainger, Robert, van Heyningen, Veronica, Kleinjan, Dirk A.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 2.37 MB

english, 2013

7

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

Gupta, Vandana A., Ravenscroft, Gianina, Shaheen, Ranad, Todd, Emily J., Swanson, Lindsay C., Shiina, Masaaki, Ogata, Kazuhiro, Hsu, Cynthia, Clarke, Nigel F., Darras, Basil T., Farrar, Michelle A., H

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 3.31 MB

english, 2013

8

This Month in The Journal

Ratzel, Sarah, Cullinan, Sara B.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

9

SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid

Parry, David A., Logan, Clare V., Stegmann, Alexander P.A., Abdelhamed, Zakia A., Calder, Alistair, Khan, Shabana, Bonthron, David T., Clowes, Virginia, Sheridan, Eamonn, Ghali, Neeti, Chudley, Albert

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.58 MB

english, 2013

10

This Month in Genetics

Garber, Kathryn B.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

11

Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis

Mercier, Sandra, Küry, Sébastien, Shaboodien, Gasnat, Houniet, Darren T., Khumalo, Nonhlanhla P., Bou-Hanna, Chantal, Bodak, Nathalie, Cormier-Daire, Valérie, David, Albert, Faivre, Laurence, Figarell

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.62 MB

english, 2013

12

Mapping eQTLs in the Norfolk Island Genetic Isolate Identifies Candidate Genes for CVD Risk Traits

Benton, Miles C., Lea, Rod A., Macartney-Coxson, Donia, Carless, Melanie A., Göring, Harald H., Bellis, Claire, Hanna, Michelle, Eccles, David, Chambers, Geoffrey K., Curran, Joanne E., Harper, Jacqui

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.10 MB

english, 2013

13

Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

Liegel, Ryan P., Handley, Mark T., Ronchetti, Adam, Brown, Stephen, Langemeyer, Lars, Linford, Andrea, Chang, Bo, Morris-Rosendahl, Deborah J., Carpanini, Sarah, Posmyk, Renata, Harthill, Verity, Sher

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 2.81 MB

english, 2013

14

Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

Poulter, James A., Al-Araimi, Musallam, Conte, Ivan, van Genderen, Maria M., Sheridan, Eamonn, Carr, Ian M., Parry, David A., Shires, Mike, Carrella, Sabrina, Bradbury, John, Khan, Kamron, Lakeman, Ph

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.77 MB

english, 2013

15

Mutation-Driven Evolution

Weiss, Kenneth M.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 31 KB

english, 2013

16

Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears

Gordon, Christopher T., Petit, Florence, Kroisel, Peter M., Jakobsen, Linda, Zechi-Ceide, Roseli Maria, Oufadem, Myriam, Bole-Feysot, Christine, Pruvost, Solenn, Masson, Cécile, Tores, Frédéric, Hieu,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 983 KB

english, 2013

17

Integrating GWASs and Human Protein Interaction Networks Identifies a Gene Subnetwork Underlying Alcohol Dependence

Han, Shizhong, Yang, Bao-Zhu, Kranzler, Henry R., Liu, Xiaoming, Zhao, Hongyu, Farrer, Lindsay A., Boerwinkle, Eric, Potash, James B., Gelernter, Joel

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 283 KB

english, 2013

18

Global Analysis of DNA Methylation Variation in Adipose Tissue from Twins Reveals Links to Disease-Associated Variants in Distal Regulatory Elements

Grundberg, Elin, Meduri, Eshwar, Sandling, Johanna K., Hedman, Åsa K., Keildson, Sarah, Buil, Alfonso, Busche, Stephan, Yuan, Wei, Nisbet, James, Sekowska, Magdalena, Wilk, Alicja, Barrett, Amy, Small

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 36 KB

english, 2013

19

Estimation of SNP Heritability from Dense Genotype Data

Lee, S. Hong, Yang, Jian, Chen, Guo-Bo, Ripke, Stephan, Stahl, Eli A., Hultman, Christina M., Sklar, Pamela, Visscher, Peter M., Sullivan, Patrick F., Goddard, Michael E., Wray, Naomi R.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 107 KB

english, 2013

20

Response to Lee et al.: SNP-Based Heritability Analysis with Dense Data

Speed, Doug, Hemani, Gibran, Johnson, Michael R., Balding, David J.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 67 KB

english, 2013

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