Fundraising September 15, 2024 – October 1, 2024 About fundraising

Volume 102; Issue 5

The American Journal of Human Genetics

Volume 102; Issue 5

1

An Osteoporosis Risk SNP at 1p36.12 Acts as an Allele-Specific Enhancer to Modulate LINC00339 Expression via Long-Range Loop Formation

Chen, Xiao-Feng, Zhu, Dong-Li, Yang, Man, Hu, Wei-Xin, Duan, Yuan-Yuan, Lu, Bing-Jie, Rong, Yu, Dong, Shan-Shan, Hao, Ruo-Han, Chen, Jia-Bin, Chen, Yi-Xiao, Yao, Shi, Thynn, Hlaing Nwe, Guo, Yan, Yang

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.04 MB

english, 2018

2

The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance

Garton, Fleur C., Houweling, Peter J., Vukcevic, Damjan, Meehan, Lyra R., Lee, Fiona X.Z., Lek, Monkol, Roeszler, Kelly N., Hogarth, Marshall W., Tiong, Chrystal F., Zannino, Diana, Yang, Nan, Leslie,

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 3.02 MB

english, 2018

3

Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana

Retshabile, Gaone, Mlotshwa, Busisiwe C., Williams, Lesedi, Mwesigwa, Savannah, Mboowa, Gerald, Huang, Zhuoyi, Rustagi, Navin, Swaminathan, Shanker, Katagirya, Eric, Kyobe, Samuel, Wayengera, Misaki,

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.08 MB

english, 2018

4

Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms

Forbes, Thomas A., Howden, Sara E., Lawlor, Kynan, Phipson, Belinda, Maksimovic, Jovana, Hale, Lorna, Wilson, Sean, Quinlan, Catherine, Ho, Gladys, Holman, Katherine, Bennetts, Bruce, Crawford, Joanna

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 3.27 MB

english, 2018

5

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

Guissart, Claire, Latypova, Xenia, Rollier, Paul, Khan, Tahir N., Stamberger, Hannah, McWalter, Kirsty, Cho, Megan T., Kjaergaard, Susanne, Weckhuysen, Sarah, Lesca, Gaetan, Besnard, Thomas, Õunap, Ka

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.06 MB

english, 2018

6

Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland

Martin, Alicia R., Karczewski, Konrad J., Kerminen, Sini, Kurki, Mitja I., Sarin, Antti-Pekka, Artomov, Mykyta, Eriksson, Johan G., Esko, Tõnu, Genovese, Giulio, Havulinna, Aki S., Kaprio, Jaakko, Kon

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 3.48 MB

english, 2018

7

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

Cheng, Hanyin, Dharmadhikari, Avinash V., Varland, Sylvia, Ma, Ning, Domingo, Deepti, Kleyner, Robert, Rope, Alan F., Yoon, Margaret, Stray-Pedersen, Asbjørg, Posey, Jennifer E., Crews, Sarah R., Eldo

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.31 MB

english, 2018

8

Missense Variants in HIF1A and LACC1 Contribute to Leprosy Risk in Han Chinese

Wang, Dong, Fan, Yu, Malhi, Mahadev, Bi, Rui, Wu, Yong, Xu, Min, Yu, Xiu-Feng, Long, Heng, Li, Yu-Ye, Zhang, Deng-Feng, Yao, Yong-Gang

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.64 MB

english, 2018

9

Patterns of Genetic Coding Variation in a Native American Population before and after European Contact

Lindo, John, Rogers, Mary, Mallott, Elizabeth K., Petzelt, Barbara, Mitchell, Joycelynn, Archer, David, Cybulski, Jerome S., Malhi, Ripan S., DeGiorgio, Michael

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 777 KB

english, 2018

10

Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease

Cornec-Le Gall, Emilie, Olson, Rory J., Besse, Whitney, Heyer, Christina M., Gainullin, Vladimir G., Smith, Jessica M., Audrézet, Marie-Pierre, Hopp, Katharina, Porath, Binu, Shi, Beili, Baheti, Saura

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.64 MB

english, 2018

11

C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia

Fassad, Mahmoud R., Shoemark, Amelia, le Borgne, Pierrick, Koll, France, Patel, Mitali, Dixon, Mellisa, Hayward, Jane, Richardson, Charlotte, Frost, Emily, Jenkins, Lucy, Cullup, Thomas, Chung, Eddie

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 3.24 MB

english, 2018

12

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

Höben, Inga M., Hjeij, Rim, Olbrich, Heike, Dougherty, Gerard W., Nöthe-Menchen, Tabea, Aprea, Isabella, Frank, Diana, Pennekamp, Petra, Dworniczak, Bernd, Wallmeier, Julia, Raidt, Johanna, Nielsen, K

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.94 MB

english, 2018

13

FUN-LDA: A Latent Dirichlet Allocation Model for Predicting Tissue-Specific Functional Effects of Noncoding Variation: Methods and Applications

Backenroth, Daniel, He, Zihuai, Kiryluk, Krzysztof, Boeva, Valentina, Pethukova, Lynn, Khurana, Ekta, Christiano, Angela, Buxbaum, Joseph D., Ionita-Laza, Iuliana

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.72 MB

english, 2018

14

The Post-GWAS Era: From Association to Function

Gallagher, Michael D., Chen-Plotkin, Alice S.

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 491 KB

english, 2018

15

Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes

Staples, Jeffrey, Maxwell, Evan K., Gosalia, Nehal, Gonzaga-Jauregui, Claudia, Snyder, Christopher, Hawes, Alicia, Penn, John, Ulloa, Ricardo, Bai, Xiaodong, Lopez, Alexander E., Van Hout, Cristopher

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.58 MB

english, 2018

16

A Comprehensive cis -eQTL Analysis Revealed Target Genes in Breast Cancer Susceptibility Loci Identified in Genome-wide Association Studies

Guo, Xingyi, Lin, Weiqiang, Bao, Jiandong, Cai, Qiuyin, Pan, Xiao, Bai, Mengqiu, Yuan, Yuan, Shi, Jiajun, Sun, Yaqiong, Han, Mi-Ryung, Wang, Jing, Liu, Qi, Wen, Wanqing, Li, Bingshan, Long, Jirong, Ch

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.87 MB

english, 2018

17

A Mixed-Effects Model for Powerful Association Tests in Integrative Functional Genomics

Su, Yu-Ru, Di, Chongzhi, Bien, Stephanie, Huang, Licai, Dong, Xinyuan, Abecasis, Goncalo, Berndt, Sonja, Bezieau, Stephane, Brenner, Hermann, Caan, Bette, Casey, Graham, Chang-Claude, Jenny, Chanock,

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 665 KB

english, 2018

18

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

Burns, David T., Donkervoort, Sandra, Müller, Juliane S., Knierim, Ellen, Bharucha-Goebel, Diana, Faqeih, Eissa Ali, Bell, Stephanie K., AlFaifi, Abdullah Y., Monies, Dorota, Millan, Francisca, Retter

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.51 MB

english, 2018

19

This Month in The Journal

Ratzel, Sarah, Cullinan, Sara B.

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 45 KB

english, 2018