Volume 90; Issue 1

The American Journal of Human Genetics

Volume 90; Issue 1

1

Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus

Karen Mitchell, James O'Sullivan, Caterina Missero, Ed Blair, Rose Richardson, Beverley Anderson, Dario Antonini, Jeffrey C. Murray, Alan L. Shanske, Brian C. Schutte, Rose-Anne Romano, Satrajit Sinha

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 660 KB

english, 2012

2

Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome

Ersan Kalay, Orhan Sezgin, Vasant Chellappa, Mehmet Mutlu, Heba Morsy, Hulya Kayserili, Elmar Kreiger, Aysegul Cansu, Bayram Toraman, Ebtesam Mohammed Abdalla, Yakup Aslan, Shiv Pillai, Nurten A. Akar

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.12 MB

english, 2012

3

Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement

Alejandro Estrada-Cuzcano, Kornelia Neveling, Susanne Kohl, Eyal Banin, Ygal Rotenstreich, Dror Sharon, Tzipora C. Falik-Zaccai, Stephanie Hipp, Ronald Roepman, Bernd Wissinger, Stef J.F. Letteboer, D

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 867 KB

english, 2012

4

De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly

Yuriko Yoneda, Kazuhiro Haginoya, Hiroshi Arai, Shigeo Yamaoka, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Kenji Yokochi, Hitoshi Osaka, Mitsuhiro Kato, Naomichi Matsumoto, Hirotomo Saitsu

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 551 KB

english, 2012

5

Mutations in EZH2 Cause Weaver Syndrome

William T. Gibson, Rebecca L. Hood, Shing Hei Zhan, Dennis E. Bulman, Anthony P. Fejes, Richard Moore, Andrew J. Mungall, Patrice Eydoux, Riyana Babul-Hirji, Jianghong An, Marco A. Marra, David Chitay

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.00 MB

english, 2012

6

Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy

Zhenlin Zhang, Weibo Xia, Jinwei He, Zeng Zhang, Yaohua Ke, Hua Yue, Chun Wang, Hao Zhang, Jiemei Gu, Weiwei Hu, Wenzhen Fu, Yunqiu Hu, Miao Li, Yujuan Liu

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 959 KB

english, 2012

7

Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen, Tanja Wittkampf, Marcel du Moulin, Jacqueline Stella, Martine Le Merrer, Geneviève Guest, Karen Lambot, Marie-Frederique Tazarourte-Pinturier, Nicol

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 852 KB

english, 2012

8

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

Damien Lederer, Bernard Grisart, Maria Cristina Digilio, Valérie Benoit, Marianne Crespin, Sophie Claire Ghariani, Isabelle Maystadt, Bruno Dallapiccola, Christine Verellen-Dumoulin

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 444 KB

english, 2012

9

COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke

Marion Jeanne, Cassandre Labelle-Dumais, Jeff Jorgensen, W. Berkeley Kauffman, Grazia M. Mancini, Jack Favor, Valerie Valant, Steven M. Greenberg, Jonathan Rosand, Douglas B. Gould

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 929 KB

english, 2012

10

Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder

Andrea K. Vaags, Anath C. Lionel, Daisuke Sato, McKinsey Goodenberger, Quinn P. Stein, Sarah Curran, Caroline Ogilvie, Joo Wook Ahn, Irene Drmic, Lili Senman, Christina Chrysler, Ann Thompson, Carolyn

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 202 KB

english, 2012

11

ABCB6 Mutations Cause Ocular Coloboma

Lejing Wang, Fei He, Juan Bu, Xiaqi Liu, Wei Du, Jiamei Dong, Jeffrey D. Cooney, Sushil Kumar Dubey, Yi Shi, Bo Gong, Jing Li, Paul F. McBride, Yanlei Jia, Fang Lu, Kathleen A. Soltis, Ying Lin, Prasa

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.09 MB

english, 2012

12

Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic Acidosis

Woranontee Weraarpachai, Florin Sasarman, Tamiko Nishimura, Hana Antonicka, Karine Auré, Agnès Rötig, Anne Lombès, Eric A. Shoubridge

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.27 MB

english, 2012

13

Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1

Lina Basel-Vanagaite, Noam Zevit, Adi Har Zahav, Liang Guo, Saj Parathath, Metsada Pasmanik-Chor, Adam D. McIntyre, Jian Wang, Adi Albin-Kaplanski, Corina Hartman, Daphna Marom, Avraham Zeharia, Abir

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.35 MB

english, 2012

14

Five Years of GWAS Discovery

Peter M. Visscher, Matthew A. Brown, Mark I. McCarthy, Jian Yang

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 344 KB

english, 2012

15

Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin

Peter Huppke, Cornelia Brendel, Vera Kalscheuer, Georg Christoph Korenke, Iris Marquardt, Peter Freisinger, John Christodoulou, Merle Hillebrand, Gaele Pitelet, Callum Wilson, Ursula Gruber-Sedlmayr,

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 544 KB

english, 2012

16

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

Sarah E. Heron, Bronwyn E. Grinton, Sara Kivity, Zaid Afawi, Sameer M. Zuberi, James N. Hughes, Clair Pridmore, Bree L. Hodgson, Xenia Iona, Lynette G. Sadleir, James Pelekanos, Eric Herlenius, Hadass

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.10 MB

english, 2012

17

A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

Viviana Caputo, Luciano Cianetti, Marcello Niceta, Claudio Carta, Andrea Ciolfi, Gianfranco Bocchinfuso, Eugenio Carrani, Maria Lisa Dentici, Elisa Biamino, Elga Belligni, Livia Garavelli, Loredana Bo

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 617 KB

english, 2012

18

Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

Eric D. Boyden, A. Belinda Campos-Xavier, Sebastian Kalamajski, Trevor L. Cameron, Philippe Suarez, Goranka Tanackovic, Generoso Andria, Diana Ballhausen, Michael D. Briggs, Claire Hartley, Daniel H.

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 26 KB

english, 2012

19

This Month in The Journal

Sara B. Cullinan

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 44 KB

english, 2012

20

This Month in Genetics

Kathryn B. Garber

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

21

A Century beyond the Fly Room

David L. Nelson

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 38 KB

english, 2012