Volume 101; Issue 6

The American Journal of Human Genetics

Volume 101; Issue 6

1

Penetrance of Polygenic Obesity Susceptibility Loci across the Body Mass Index Distribution

Abadi, Arkan, Alyass, Akram, Robiou du Pont, Sebastien, Bolker, Ben, Singh, Pardeep, Mohan, Viswanathan, Diaz, Rafael, Engert, James C., Yusuf, Salim, Gerstein, Hertzel C., Anand, Sonia S., Meyre, Dav

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.42 MB

english, 2017

2

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder

Falkenberg, Kim D., Braverman, Nancy E., Moser, Ann B., Steinberg, Steven J., Klouwer, Femke C.C., Schlüter, Agatha, Ruiz, Montserrat, Pujol, Aurora, Engvall, Martin, Naess, Karin, van Spronsen, Franc

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.23 MB

english, 2017

3

A Powerful Approach to Estimating Annotation-Stratified Genetic Covariance via GWAS Summary Statistics

Lu, Qiongshi, Li, Boyang, Ou, Derek, Erlendsdottir, Margret, Powles, Ryan L., Jiang, Tony, Hu, Yiming, Chang, David, Jin, Chentian, Dai, Wei, He, Qidu, Liu, Zefeng, Mukherjee, Shubhabrata, Crane, Paul

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.88 MB

english, 2017

4

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities

Martin, Sonja, Chamberlin, Adam, Shinde, Deepali N., Hempel, Maja, Strom, Tim M., Schreiber, Allison, Johannsen, Jessika, Ousager, Lilian Bomme, Larsen, Martin J., Hansen, Lars Kjaersgaard, Fatemi, Al

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.22 MB

english, 2017

5

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Cuvertino, Sara, Stuart, Helen M., Chandler, Kate E., Roberts, Neil A., Armstrong, Ruth, Bernardini, Laura, Bhaskar, Sanjeev, Callewaert, Bert, Clayton-Smith, Jill, Davalillo, Cristina Hernando, Deshp

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 2.41 MB

english, 2017

6

A Selection Operator for Summary Association Statistics Reveals Allelic Heterogeneity of Complex Traits

Ning, Zheng, Lee, Youngjo, Joshi, Peter K., Wilson, James F., Pawitan, Yudi, Shen, Xia

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.48 MB

english, 2017

7

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

Sanna-Cherchi, Simone, Khan, Kamal, Westland, Rik, Krithivasan, Priya, Fievet, Lorraine, Rasouly, Hila Milo, Ionita-Laza, Iuliana, Capone, Valentina P., Fasel, David A., Kiryluk, Krzysztof, Kamalakara

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 53 KB

english, 2017

8

This Month in Genetics

Garber, Kathryn B.

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

9

So Long, and Thanks for All the Genes!

Nelson, David L.

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 60 KB

english, 2017

10

This Month in The Journal

Ratzel, Sarah, Cullinan, Sara B.

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017