Volume 91; Issue 2

The American Journal of Human Genetics

Volume 91; Issue 2

1

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

Wendy D. Jones, Dimitra Dafou, Meriel McEntagart, Wesley J. Woollard, Frances V. Elmslie, Muriel Holder-Espinasse, Melita Irving, Anand K. Saggar, Sarah Smithson, Richard C. Trembath, Charu Deshpande,

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 351 KB

english, 2012

2

Exome Sequencing Followed by Large-Scale Genotyping Suggests a Limited Role for Moderately Rare Risk Factors of Strong Effect in Schizophrenia

Anna C. Need, Joseph P. McEvoy, Massimo Gennarelli, Erin L. Heinzen, Dongliang Ge, Jessica M. Maia, Kevin V. Shianna, Min He, Elizabeth T. Cirulli, Curtis E. Gumbs, Qian Zhao, C. Ryan Campbell, Linda

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 176 KB

english, 2012

3

POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism

Ranad Shaheen, Eissa Faqeih, Hanan E. Shamseldin, Ramil R. Noche, Asma Sunker, Muneera J. Alshammari, Tarfa Al-Sheddi, Nouran Adly, Mohammed S. Al-Dosari, Sean G. Megason, Muneera Al-Husain, Futwan Al

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 683 KB

english, 2012

4

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation

Ofer Sarig, Sagi Nahum, Debora Rapaport, Akemi Ishida-Yamamoto, Dana Fuchs-Telem, Li Qiaoli, Ksenya Cohen-Katsenelson, Ronen Spiegel, Janna Nousbeck, Shirli Israeli, Zvi-Uri Borochowitz, Gilly Padalon

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1008 KB

english, 2012

5

A Permutation Procedure to Correct for Confounders in Case-Control Studies, Including Tests of Rare Variation

Michael P. Epstein, Richard Duncan, Yunxuan Jiang, Karen N. Conneely, Andrew S. Allen, Glen A. Satten

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 144 KB

english, 2012

6

A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V

Tae-Joon Cho, Kyung-Eun Lee, Sook-Kyung Lee, Su Jeong Song, Kyung Jin Kim, Daehyun Jeon, Gene Lee, Ha-Neui Kim, Hye Ran Lee, Hye-Hyun Eom, Zang Hee Lee, Ok-Hwa Kim, Woong-Yang Park, Sung Sup Park, Shi

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 374 KB

english, 2012

7

Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

Seunggeun Lee, Mary J. Emond, Michael J. Bamshad, Kathleen C. Barnes, Mark J. Rieder, Deborah A. Nickerson, David C. Christiani, Mark M. Wurfel, Xihong Lin

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 630 KB

english, 2012

8

Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

Guy Froyen, Stefanie Belet, Francisco Martinez, Cíntia Barros Santos-Rebouças, Matthias Declercq, Jelle Verbeeck, Lene Donckers, Siren Berland, Sonia Mayo, Monica Rosello, Márcia Mattos Gonçalves Pime

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 541 KB

english, 2012

9

A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus

Oliver Semler, Lutz Garbes, Katharina Keupp, Daniel Swan, Katharina Zimmermann, Jutta Becker, Sandra Iden, Brunhilde Wirth, Peer Eysel, Friederike Koerber, Eckhard Schoenau, Stefan K. Bohlander, Bernd

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 562 KB

english, 2012

10

Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores

Karen Majczenko, Ann E. Davidson, Sandra Camelo-Piragua, Pankaj B. Agrawal, Richard A. Manfready, Xingli Li, Sucheta Joshi, Jishu Xu, Weiping Peng, Alan H. Beggs, Jun Z. Li, Margit Burmeister, James J

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.30 MB

english, 2012

11

Phasing of Many Thousands of Genotyped Samples

Amy L. Williams, Nick Patterson, Joseph Glessner, Hakon Hakonarson, David Reich

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 537 KB

english, 2012

12

Genomic Patterns of Homozygosity in Worldwide Human Populations

Trevor J. Pemberton, Devin Absher, Marcus W. Feldman, Richard M. Myers, Noah A. Rosenberg, Jun Z. Li

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.86 MB

english, 2012

13

A Haplotype at STAT2 Introgressed from Neanderthals and Serves as a Candidate of Positive Selection in Papua New Guinea

Fernando L. Mendez, Joseph C. Watkins, Michael F. Hammer

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 682 KB

english, 2012

14

Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy

Erin L. Heinzen, Chantal Depondt, Gianpiero L. Cavalleri, Elizabeth K. Ruzzo, Nicole M. Walley, Anna C. Need, Dongliang Ge, Min He, Elizabeth T. Cirulli, Qian Zhao, Kenneth D. Cronin, Curtis E. Gumbs,

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 454 KB

english, 2012

15

TCTN3 Mutations Cause Mohr-Majewski Syndrome

Sophie Thomas, Marine Legendre, Sophie Saunier, Bettina Bessières, Caroline Alby, Maryse Bonnière, Annick Toutain, Laurence Loeuillet, Katarzyna Szymanska, Frédérique Jossic, Dominique Gaillard, Moham

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 714 KB

english, 2012

16

Rare De Novo Germline Copy-Number Variation in Testicular Cancer

Zsofia K. Stadler, Diane Esposito, Sohela Shah, Joseph Vijai, Boris Yamrom, Dan Levy, Yoon-ha Lee, Jude Kendall, Anthony Leotta, Michael Ronemus, Nichole Hansen, Kara Sarrel, Rohini Rau-Murthy, Kasmin

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 675 KB

english, 2012

17

ABCB6 Mutations Cause Ocular Coloboma

Lejin Wang, Fei He, Juan Bu, Yuanli Zhen, Xiaoqi 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, Yi

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 34 KB

english, 2012

18

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

Nancy D. Merner, Simon L. Girard, Hélène Catoire, Cynthia V. Bourassa, Véronique V. Belzil, Jean-Baptiste Rivière, Pascale Hince, Annie Levert, Alexandre Dionne-Laporte, Dan Spiegelman, Anne Noreau, S

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 488 KB

english, 2012

19

A Functional Copy-Number Variation in MAPKAPK2 Predicts Risk and Prognosis of Lung Cancer

Bin Liu, Lei Yang, Binfang Huang, Mei Cheng, Hui Wang, Yinyan Li, Dongsheng Huang, Jian Zheng, Qingchu Li, Xin Zhang, Weidong Ji, Yifeng Zhou, Jiachun Lu

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 284 KB

english, 2012

20

RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome

Susan J. Hassed, Graham B. Wiley, Shaofeng Wang, Ji-Yun Lee, Shibo Li, Weihong Xu, Zhizhuang J. Zhao, John J. Mulvihill, James Robertson, James Warner, Patrick M. Gaffney

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 237 KB

english, 2012

21

A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome

Mark J. Rieder, Glenn E. Green, Sarah S. Park, Brendan D. Stamper, Christopher T. Gordon, Jason M. Johnson, Christopher M. Cunniff, Joshua D. Smith, Sarah B. Emery, Stanislas Lyonnet, Jeanne Amiel, Mu

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 34 KB

english, 2012

22

This Month in The Journal

Sara B. Cullinan

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 43 KB

english, 2012

23

This Month in Genetics

Kathryn B. Garber

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 42 KB

english, 2012

24

The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement

Hiroyuki Ishiura, Wataru Sako, Mari Yoshida, Toshitaka Kawarai, Osamu Tanabe, Jun Goto, Yuji Takahashi, Hidetoshi Date, Jun Mitsui, Budrul Ahsan, Yaeko Ichikawa, Atsushi Iwata, Hiide Yoshino, Yuishin

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.62 MB

english, 2012

25

A Missense Mutation in Myelin Oligodendrocyte Glycoprotein as a Cause of Familial Narcolepsy with Cataplexy

Hyun Hor, Luca Bartesaghi, Zoltán Kutalik, José L. Vicário, Clara de Andrés, Corinne Pfister, Gert J. Lammers, Nicolas Guex, Roman Chrast, Mehdi Tafti, Rosa Peraita-Adrados

Journal:

The American Journal of Human Genetics

Year:

2012

File:

PDF, 26 KB

2012

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