Volume 91; Issue 1

The American Journal of Human Genetics

Volume 91; Issue 1

1

Ethiopian Genetic Diversity Reveals Linguistic Stratification and Complex Influences on the Ethiopian Gene Pool

Luca Pagani, Toomas Kivisild, Ayele Tarekegn, Rosemary Ekong, Chris Plaster, Irene Gallego Romero, Qasim Ayub, S. Qasim Mehdi, Mark G. Thomas, Donata Luiselli, Endashaw Bekele, Neil Bradman, David J.

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.20 MB

english, 2012

2

Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1

Jie Zhou, Marcel Tawk, Francesco Danilo Tiziano, Julien Veillet, Monica Bayes, Flora Nolent, Virginie Garcia, Serenella Servidei, Enrico Bertini, Francesc Castro-Giner, Yavuz Renda, Stéphane Carpentie

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 791 KB

english, 2012

3

TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

François Foulquier, Mustapha Amyere, Jaak Jaeken, Renate Zeevaert, Els Schollen, Valérie Race, Riet Bammens, Willy Morelle, Claire Rosnoblet, Dominique Legrand, Didier Demaegd, Neil Buist, David Cheil

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.56 MB

english, 2012

4

Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

Tjitske Kleefstra, Jamie M. Kramer, Kornelia Neveling, Marjolein H. Willemsen, Tom S. Koemans, Lisenka E.L.M. Vissers, Willemijn Wissink-Lindhout, Michaela Fenckova, Willem M.R. van den Akker, Nael Na

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 770 KB

english, 2012

5

Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

Peter M. Krawitz, Yoshiko Murakami, Jochen Hecht, Ulrike Krüger, Susan E. Holder, Geert R. Mortier, Barbara Delle Chiaie, Elfride De Baere, Miles D. Thompson, Tony Roscioli, Szymon Kielbasa, Taroh Kin

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 635 KB

english, 2012

6

Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies

Hyung-Goo Kim, Hyun-Taek Kim, Natalia T. Leach, Fei Lan, Reinhard Ullmann, Asli Silahtaroglu, Ingo Kurth, Anja Nowka, Ihn Sik Seong, Yiping Shen, Michael E. Talkowski, Douglas Ruderfer, Ji-Hyun Lee, C

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.54 MB

english, 2012

7

Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V

Christian Beetz, Thomas R. Pieber, Nicole Hertel, Maria Schabhüttl, Carina Fischer, Slave Trajanoski, Elisabeth Graf, Silke Keiner, Ingo Kurth, Thomas Wieland, Rita-Eva Varga, Vincent Timmerman, Mary

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 588 KB

english, 2012

8

The Evolutionary Landscape of Cytosolic Microbial Sensors in Humans

Estelle Vasseur, Michele Boniotto, Etienne Patin, Guillaume Laval, Hélène Quach, Jeremy Manry, Brigitte Crouau-Roy, Lluis Quintana-Murci

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1022 KB

english, 2012

9

Genetic Associations for Activated Partial Thromboplastin Time and Prothrombin Time, their Gene Expression Profiles, and Risk of Coronary Artery Disease

Weihong Tang, Christine Schwienbacher, Lorna M. Lopez, Yoav Ben-Shlomo, Tiphaine Oudot-Mellakh, Andrew D. Johnson, Nilesh J. Samani, Saonli Basu, Martin Gögele, Gail Davies, Gordon D.O. Lowe, David-Al

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 367 KB

english, 2012

10

Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14

Dana Fuchs-Telem, Ofer Sarig, Maurice A.M. van Steensel, Ofer Isakov, Shirli Israeli, Janna Nousbeck, Katharina Richard, Veronique Winnepenninckx, Marigje Vernooij, Noam Shomron, Jouni Uitto, Philip F

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.30 MB

english, 2012

11

Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders

Rui Luo, Stephan J. Sanders, Yuan Tian, Irina Voineagu, Ni Huang, Su H. Chu, Lambertus Klei, Chaochao Cai, Jing Ou, Jennifer K. Lowe, Matthew E. Hurles, Bernie Devlin, Matthew W. State, Daniel H. Gesc

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 2.03 MB

english, 2012

12

HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1−/− Mice

Bryn D. Webb, Sherin Shaaban, Harald Gaspar, Luis F. Cunha, Christian R. Schubert, Ke Hao, Caroline D. Robson, Wai-Man Chan, Caroline Andrews, Sarah MacKinnon, Darren T. Oystreck, David G. Hunter, Ant

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 726 KB

english, 2012

13

A Common Variant in SLC8A1 Is Associated with the Duration of the Electrocardiographic QT Interval

Jong Wook Kim, Kyung-Won Hong, Min Jin Go, Sung Soo Kim, Yasuharu Tabara, Yoshikuni Kita, Takeshi Tanigawa, Yoon Shin Cho, Bok-Ghee Han, Bermseok Oh

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 301 KB

english, 2012

14

Presence of Multiple Independent Effects in Risk Loci of Common Complex Human Diseases

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 109 KB

english, 2012

15

Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

Jennifer J. Johnston, Wendy S. Rubinstein, Flavia M. Facio, David Ng, Larry N. Singh, Jamie K. Teer, James C. Mullikin, Leslie G. Biesecker

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 506 KB

english, 2012

16

Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

Katsiaryna Belaya, Sarah Finlayson, Clarke R. Slater, Judith Cossins, Wei Wei Liu, Susan Maxwell, Simon J. McGowan, Siarhei Maslau, Stephen R.F. Twigg, Timothy J. Walls, Samuel I. Pascual Pascual, Jac

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.08 MB

english, 2012

17

A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System

John F. Staropoli, Amel Karaa, Elaine T. Lim, Andrew Kirby, Naser Elbalalesy, Stephen G. Romansky, Karen B. Leydiker, Scott H. Coppel, Rosemary Barone, Winnie Xin, Marcy E. MacDonald, Jose E. Abdenur,

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 507 KB

english, 2012

18

Estimating Kinship in Admixed Populations

Timothy Thornton, Hua Tang, Thomas J. Hoffmann, Heather M. Ochs-Balcom, Bette J. Caan, Neil Risch

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.07 MB

english, 2012

19

Metabolic Correction of Congenital Erythropoietic Porphyria with iPSCs Free of Reprogramming Factors

Aurélie Bedel, Miguel Taillepierre, Véronique Guyonnet-Duperat, Eric Lippert, Pierre Dubus, Sandrine Dabernat, Thibaud Mautuit, Bruno Cardinaud, Catherine Pain, Benoît Rousseau, Magalie Lalanne, Cécil

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.77 MB

english, 2012

20

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

Isabelle Audo, Kinga Bujakowska, Elise Orhan, Charlotte M. Poloschek, Sabine Defoort-Dhellemmes, Isabelle Drumare, Susanne Kohl, Tien D. Luu, Odile Lecompte, Eberhart Zrenner, Marie-Elise Lancelot, Al

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 37 KB

english, 2012

21

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

Dan Doherty, Albert E. Chudley, Gail Coghlan, Gisele E. Ishak, A. Micheil Innes, Edmond G. Lemire, R. Curtis Rogers, Aizeddin A. Mhanni, Ian G. Phelps, Steven J.M. Jones, Shing H. Zhan, Anthony P. Fej

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, 44 KB

english, 2012

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