Volume 92; Issue 4

The American Journal of Human Genetics

Volume 92; Issue 4

1

WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

Pyott, Shawna M., Tran, Thao T., Leistritz, Dru F., Pepin, Melanie G., Mendelsohn, Nancy J., Temme, Renee T., Fernandez, Bridget A., Elsayed, Solaf M., Elsobky, Ezzat, Verma, Ishwar, Nair, Sreelata, T

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 749 KB

english, 2013

2

This Month in Genetics

Garber, Kathryn B.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

3

Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

Ng, Bobby G., Buckingham, Kati J., Raymond, Kimiyo, Kircher, Martin, Turner, Emily H., He, Miao, Smith, Joshua D., Eroshkin, Alexey, Szybowska, Marta, Losfeld, Marie E., Chong, Jessica X., Kozenko, Ma

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 404 KB

english, 2013

4

Mutations in WNT1 Cause Different Forms of Bone Fragility

Keupp, Katharina, Beleggia, Filippo, Kayserili, Hülya, Barnes, Aileen M., Steiner, Magdalena, Semler, Oliver, Fischer, Björn, Yigit, Gökhan, Janda, Claudia Y., Becker, Jutta, Breer, Stefan, Altunoglu,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1018 KB

english, 2013

5

Common Risk Alleles for Inflammatory Diseases Are Targets of Recent Positive Selection

Raj, Towfique, Kuchroo, Manik, Replogle, Joseph M., Raychaudhuri, Soumya, Stranger, Barbara E., De Jager, Philip L.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 732 KB

english, 2013

6

A Mechanism for Controlled Access to GWAS Data: Experience of the GAIN Data Access Committee

Ramos, Erin M., Din-Lovinescu, Corina, Bookman, Ebony B., McNeil, Lisa J., Baker, Carl C., Godynskiy, Georgy, Harris, Emily L., Lehner, Thomas, McKeon, Catherine, Moss, Joel, Starks, Vaurice L., Sherr

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 398 KB

english, 2013

7

Complete Haplotype Sequence of the Human Immunoglobulin Heavy-Chain Variable, Diversity, and Joining Genes and Characterization of Allelic and Copy-Number Variation

Watson, Corey T., Steinberg, Karyn M., Huddleston, John, Warren, Rene L., Malig, Maika, Schein, Jacqueline, Willsey, A. Jeremy, Joy, Jeffrey B., Scott, Jamie K., Graves, Tina A., Wilson, Richard K., H

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 893 KB

english, 2013

8

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

Nota, Benjamin, Struys, Eduard A., Pop, Ana, Jansen, Erwin E., Fernandez Ojeda, Matilde R., Kanhai, Warsha A., Kranendijk, Martijn, van Dooren, Silvy J.M., Bevova, Marianna R., Sistermans, Erik A., Ni

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 293 KB

english, 2013

9

Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome

Pierce, Sarah B., Gersak, Ksenija, Michaelson-Cohen, Rachel, Walsh, Tom, Lee, Ming K., Malach, Daniel, Klevit, Rachel E., King, Mary-Claire, Levy-Lahad, Ephrat

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.11 MB

english, 2013

10

Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

Delio, Maria, Guo, Tingwei, McDonald-McGinn, Donna M., Zackai, Elaine, Herman, Sean, Kaminetzky, Mark, Higgins, Anne Marie, Coleman, Karlene, Chow, Carolyn, Jalbrzikowski, Maria, Bearden, Carrie E., B

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 37 KB

english, 2013

11

Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

Shaheen, Ranad, Aglan, Mona, Keppler-Noreuil, Kim, Faqeih, Eissa, Ansari, Shinu, Horton, Kim, Ashour, Adel, Zaki, Maha S., Al-Zahrani, Fatema, Cueto-González, Anna M., Abdel-Salam, Ghada, Temtamy, Sam

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 956 KB

english, 2013

12

Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability

Hansen, Lars, Tawamie, Hasan, Murakami, Yoshiko, Mang, Yuan, ur Rehman, Shoaib, Buchert, Rebecca, Schaffer, Stefanie, Muhammad, Safia, Bak, Mads, Nöthen, Markus M., Bennett, Eric P., Maeda, Yusuke, Ai

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 836 KB

english, 2013

13

Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome

Marneros, Alexander G., Beck, Anita E., Turner, Emily H., McMillin, Margaret J., Edwards, Matthew J., Field, Michael, de Macena Sobreira, Nara Lygia, Perez, Ana Beatriz A., Fortes, Jose A.R., Lampe, A

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 626 KB

english, 2013

14

Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

Jenkinson, Emma M., Rehman, Atteeq U., Walsh, Tom, Clayton-Smith, Jill, Lee, Kwanghyuk, Morell, Robert J., Drummond, Meghan C., Khan, Shaheen N., Naeem, Muhammad Asif, Rauf, Bushra, Billington, Neil,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.15 MB

english, 2013

15

This Month in The Journal

Ratzel, Sarah, Cullinan, Sara B.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

16

An African American Paternal Lineage Adds an Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree

Mendez, Fernando L., Krahn, Thomas, Schrack, Bonnie, Krahn, Astrid-Maria, Veeramah, Krishna R., Woerner, August E., Fomine, Forka Leypey Mathew, Bradman, Neil, Thomas, Mark G., Karafet, Tatiana M., Ha

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 35 KB

english, 2013

17

GIGI: An Approach to Effective Imputation of Dense Genotypes on Large Pedigrees

Cheung, Charles Y.K., Thompson, Elizabeth A., Wijsman, Ellen M.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 248 KB

english, 2013

18

PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome

Krawitz, Peter M., Murakami, Yoshiko, Rieß, Angelika, Hietala, Marja, Krüger, Ulrike, Zhu, Na, Kinoshita, Taroh, Mundlos, Stefan, Hecht, Jochen, Robinson, Peter N., Horn, Denise

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 447 KB

english, 2013

19

Functional Variants at the 11q13 Risk Locus for Breast Cancer Regulate Cyclin D1 Expression through Long-Range Enhancers

French, Juliet D., Ghoussaini, Maya, Edwards, Stacey L., Meyer, Kerstin B., Michailidou, Kyriaki, Ahmed, Shahana, Khan, Sofia, Maranian, Mel J., O’Reilly, Martin, Hillman, Kristine M., Betts, Joshua A

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.27 MB

english, 2013

20

The Benefits of Using Genetic Information to Design Prevention Trials

Hu, Youna, Li, Li, Ehm, Margaret G., Bing, Nan, Song, Kijoung, Nelson, Matthew R., Talmud, Philippa J., Hingorani, Aroon D., Kumari, Meena, Kivimäki, Mika, Xu, Chun-Fang, Waterworth, Dawn M., Whittake

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 684 KB

english, 2013

21

Improving the Accuracy and Efficiency of Partitioning Heritability into the Contributions of Genomic Regions

Kostem, Emrah, Eskin, Eleazar

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 405 KB

english, 2013

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