Volume 93; Issue 4

The American Journal of Human Genetics

Volume 93; Issue 4

1

Transmission Disequilibrium of Small CNVs in Simplex Autism

Krumm, Niklas, O’Roak, Brian J., Karakoc, Emre, Mohajeri, Kiana, Nelson, Ben, Vives, Laura, Jacquemont, Sebastien, Munson, Jeff, Bernier, Raphe, Eichler, Evan E.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 873 KB

english, 2013

2

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

Dorschner, Michael O., Amendola, Laura M., Turner, Emily H., Robertson, Peggy D., Shirts, Brian H., Gallego, Carlos J., Bennett, Robin L., Jones, Kelly L., Tokita, Mari J., Bennett, James T., Kim, Jer

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 145 KB

english, 2013

3

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

Sacconi, Sabrina, Lemmers, Richard J.L.F., Balog, Judit, van der Vliet, Patrick J., Lahaut, Pauline, van Nieuwenhuizen, Merlijn P., Straasheijm, Kirsten R., Debipersad, Rashmie D., Vos-Versteeg, Maria

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 812 KB

english, 2013

4

Reliable Identification of Genomic Variants from RNA-Seq Data

Piskol, Robert, Ramaswami, Gokul, Li, Jin Billy

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.22 MB

english, 2013

5

Fine Mapping and Identification of BMI Loci in African Americans

Gong, Jian, Schumacher, Fredrick, Lim, Unhee, Hindorff, Lucia A., Haessler, Jeff, Buyske, Steven, Carlson, Christopher S., Rosse, Stephanie, Bůžková, Petra, Fornage, Myriam, Gross, Myron, Pankratz, Na

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 545 KB

english, 2013

6

Haplotype Estimation Using Sequencing Reads

Delaneau, Olivier, Howie, Bryan, Cox, Anthony J., Zagury, Jean-François, Marchini, Jonathan

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 708 KB

english, 2013

7

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

Austin-Tse, Christina, Halbritter, Jan, Zariwala, Maimoona A., Gilberti, Renée M., Gee, Heon Yung, Hellman, Nathan, Pathak, Narendra, Liu, Yan, Panizzi, Jennifer R., Patel-King, Ramila S., Tritschler,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 2.59 MB

english, 2013

8

The IL-33-ST2L Pathway Is Associated with Coronary Artery Disease in a Chinese Han Population

Tu, Xin, Nie, Shaofang, Liao, Yuhua, Zhang, Hongsong, Fan, Qian, Xu, Chengqi, Bai, Ying, Wang, Fan, Ren, Xiang, Tang, Tingting, Xia, Ni, Li, Sisi, Huang, Yuan, Liu, Juan, Yang, Qing, Zhao, Yuanyuan, L

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.00 MB

english, 2013

9

Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms

Knowles, Michael R., Ostrowski, Lawrence E., Loges, Niki T., Hurd, Toby, Leigh, Margaret W., Huang, Lu, Wolf, Whitney E., Carson, Johnny L., Hazucha, Milan J., Yin, Weining, Davis, Stephanie D., Dell,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.99 MB

english, 2013

10

Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia

Srour, Myriam, Chitayat, David, Caron, Véronique, Chassaing, Nicolas, Bitoun, Pierre, Patry, Lysanne, Cordier, Marie-Pierre, Capo-Chichi, José-Mario, Francannet, Christine, Calvas, Patrick, Ragge, Nic

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 835 KB

english, 2013

11

Genetic Mapping with Multiple Levels of Phenotypic Information Reveals Determinants of Lymphocyte Glucocorticoid Sensitivity

Maranville, Joseph C., Baxter, Shaneen S., Witonsky, David B., Chase, Meredith A., Di Rienzo, Anna

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 733 KB

english, 2013

12

Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

Bonnen, Penelope E., Yarham, John W., Besse, Arnaud, Wu, Ping, Faqeih, Eissa A., Al-Asmari, Ali Mohammad, Saleh, Mohammad A.M., Eyaid, Wafaa, Hadeel, Alrukban, He, Langping, Smith, Frances, Yau, Shu,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 53 KB

english, 2013

13

This Month in Genetics

Garber, Kathryn B.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

14

Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay

Al-Sayed, Moeenaldeen D., Al-Zaidan, Hamad, Albakheet, AlBandary, Hakami, Hana, Kenana, Rosan, Al-Yafee, Yusra, Al-Dosary, Mazhor, Qari, Alya, Al-Sheddi, Tarfa, Al-Muheiza, Muhammed, Al-Qubbaj, Wafa,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 780 KB

english, 2013

15

Cole Disease Results from Mutations in ENPP1

Eytan, Ori, Morice-Picard, Fanny, Sarig, Ofer, Ezzedine, Khaled, Isakov, Ofer, Li, Qiaoli, Ishida-Yamamoto, Akemi, Shomron, Noam, Goldsmith, Tomer, Fuchs-Telem, Dana, Adir, Noam, Uitto, Jouni, Orlow,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.03 MB

english, 2013

16

Topical Enzyme-Replacement Therapy Restores Transglutaminase 1 Activity and Corrects Architecture of Transglutaminase-1-Deficient Skin Grafts

Aufenvenne, Karin, Larcher, Fernando, Hausser, Ingrid, Duarte, Blanca, Oji, Vinzenz, Nikolenko, Heike, Del Rio, Marcela, Dathe, Margitta, Traupe, Heiko

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 2.13 MB

english, 2013

17

This Month in The Journal

Ratzel, Sarah, Cullinan, Sara B.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

18

Mutations in AGBL1 Cause Dominant Late-Onset Fuchs Corneal Dystrophy and Alter Protein-Protein Interaction with TCF4

Riazuddin, S. Amer, Vasanth, Shivakumar, Katsanis, Nicholas, Gottsch, John D.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1003 KB

english, 2013

19

Formation of Chimeric Genes by Copy-Number Variation as a Mutational Mechanism in Schizophrenia

Rippey, Caitlin, Walsh, Tom, Gulsuner, Suleyman, Brodsky, Matt, Nord, Alex S., Gasperini, Molly, Pierce, Sarah, Spurrell, Cailyn, Coe, Bradley P., Krumm, Niklas, Lee, Ming K., Sebat, Jonathan, McClell

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.43 MB

english, 2013

20

Irene A. Uchida, 1917–2013

Davidson, Ronald G.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 793 KB

english, 2013

21

Identification of Small Exonic CNV from Whole-Exome Sequence Data and Application to Autism Spectrum Disorder

Poultney, Christopher S., Goldberg, Arthur P., Drapeau, Elodie, Kou, Yan, Harony-Nicolas, Hala, Kajiwara, Yuji, De Rubeis, Silvia, Durand, Simon, Stevens, Christine, Rehnström, Karola, Palotie, Aarno,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.91 MB

english, 2013

22

Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction

Koehler, Katrin, Malik, Meera, Mahmood, Saqib, Gießelmann, Sebastian, Beetz, Christian, Hennings, J. Christopher, Huebner, Antje K., Grahn, Ammi, Reunert, Janine, Nürnberg, Gudrun, Thiele, Holger, Alt

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 642 KB

english, 2013

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