Volume 100; Issue 1

The American Journal of Human Genetics

Volume 100; Issue 1

1

Proteome-Scale Investigation of Protein Allosteric Regulation Perturbed by Somatic Mutations in 7,000 Cancer Genomes

Shen, Qiancheng, Cheng, Feixiong, Song, Huili, Lu, Weiqiang, Zhao, Junfei, An, Xiaoli, Liu, Mingyao, Chen, Guoqiang, Zhao, Zhongming, Zhang, Jian

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 3.28 MB

english, 2017

2

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

Mattioli, Francesca, Schaefer, Elise, Magee, Alex, Mark, Paul, Mancini, Grazia M., Dieterich, Klaus, Von Allmen, Gretchen, Alders, Marielle, Coutton, Charles, van Slegtenhorst, Marjon, Vieville, Gaëll

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.71 MB

english, 2017

3

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

Yan, Kezhi, Rousseau, Justine, Littlejohn, Rebecca Okashah, Kiss, Courtney, Lehman, Anna, Rosenfeld, Jill A., Stumpel, Constance T.R., Stegmann, Alexander P.A., Robak, Laurie, Scaglia, Fernando, Nguye

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 2.84 MB

english, 2017

4

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease

Guo, Dong-chuan, Duan, Xue-Yan, Regalado, Ellen S., Mellor-Crummey, Lauren, Kwartler, Callie S., Kim, Dong, Lieberman, Kenneth, de Vries, Bert B.A., Pfundt, Rolph, Schinzel, Albert, Kotzot, Dieter, Sh

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.93 MB

english, 2017

5

Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors

Ahola-Olli, Ari V., Würtz, Peter, Havulinna, Aki S., Aalto, Kristiina, Pitkänen, Niina, Lehtimäki, Terho, Kähönen, Mika, Lyytikäinen, Leo-Pekka, Raitoharju, Emma, Seppälä, Ilkka, Sarin, Antti-Pekka, R

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 702 KB

english, 2017

6

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

Ait-El-Mkadem, Samira, Dayem-Quere, Manal, Gusic, Mirjana, Chaussenot, Annabelle, Bannwarth, Sylvie, François, Bérengère, Genin, Emmanuelle C., Fragaki, Konstantina, Volker-Touw, Catharina L.M., Vasni

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.14 MB

english, 2017

7

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

Harms, Frederike Leonie, Girisha, Katta M., Hardigan, Andrew A., Kortüm, Fanny, Shukla, Anju, Alawi, Malik, Dalal, Ashwin, Brady, Lauren, Tarnopolsky, Mark, Bird, Lynne M., Ceulemans, Sophia, Bebin, M

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.93 MB

english, 2017

8

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

Chao, Hsiao-Tuan, Davids, Mariska, Burke, Elizabeth, Pappas, John G., Rosenfeld, Jill A., McCarty, Alexandra J., Davis, Taylor, Wolfe, Lynne, Toro, Camilo, Tifft, Cynthia, Xia, Fan, Stong, Nicholas, J

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 2.23 MB

english, 2017

9

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

Sleven, Hannah, Welsh, Seth J., Yu, Jing, Churchill, Mair E.A., Wright, Caroline F., Henderson, Alex, Horvath, Rita, Rankin, Julia, Vogt, Julie, Magee, Alex, McConnell, Vivienne, Green, Andrew, King,

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.31 MB

english, 2017

10

Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis

van Rooij, Frank J.A., Qayyum, Rehan, Smith, Albert V., Zhou, Yi, Trompet, Stella, Tanaka, Toshiko, Keller, Margaux F., Chang, Li-Ching, Schmidt, Helena, Yang, Min-Lee, Chen, Ming-Huei, Hayes, James,

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.27 MB

english, 2017

11

Mixed Model Association with Family-Biased Case-Control Ascertainment

Hayeck, Tristan J., Loh, Po-Ru, Pollack, Samuela, Gusev, Alexander, Patterson, Nick, Zaitlen, Noah A., Price, Alkes L.

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 175 KB

english, 2017

12

Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy

Miyatake, Satoko, Mitsuhashi, Satomi, Hayashi, Yukiko K., Purevjav, Enkhsaikhan, Nishikawa, Atsuko, Koshimizu, Eriko, Suzuki, Mikiya, Yatabe, Kana, Tanaka, Yuzo, Ogata, Katsuhisa, Kuru, Satoshi, Shiin

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 2.08 MB

english, 2017

13

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Carss, Keren J., Arno, Gavin, Erwood, Marie, Stephens, Jonathan, Sanchis-Juan, Alba, Hull, Sarah, Megy, Karyn, Grozeva, Detelina, Dewhurst, Eleanor, Malka, Samantha, Plagnol, Vincent, Penkett, Christo

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.62 MB

english, 2017

14

A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis

Carmona, F. David, Vaglio, Augusto, Mackie, Sarah L., Hernández-Rodríguez, José, Monach, Paul A., Castañeda, Santos, Solans, Roser, Morado, Inmaculada C., Narváez, Javier, Ramentol-Sintas, Marc, Pease

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 959 KB

english, 2017

15

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

Paff, Tamara, Loges, Niki T., Aprea, Isabella, Wu, Kaman, Bakey, Zeineb, Haarman, Eric G., Daniels, Johannes M.A., Sistermans, Erik A., Bogunovic, Natalija, Dougherty, Gerard W., Höben, Inga M., Große

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.97 MB

english, 2017

16

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Shashi, Vandana, Pena, Loren D.M., Kim, Katherine, Burton, Barbara, Hempel, Maja, Schoch, Kelly, Walkiewicz, Magdalena, McLaughlin, Heather M., Cho, Megan, Stong, Nicholas, Hickey, Scott E., Shuss, Ch

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 53 KB

english, 2017

17

This Month in Genetics

Garber, Kathryn B.

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

18

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renz

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 58 KB

english, 2017

19

This Month in The Journal

Ratzel, Sarah, Cullinan, Sara B.

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 44 KB

english, 2017

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