Volume 88; Issue 5

The American Journal of Human Genetics

Volume 88; Issue 5

1

Succinate Dehydrogenase Gene Variants and Their Role in Cowden Syndrome

Jean-Pierre Bayley

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 51 KB

english, 2011

2

Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1

Masha Mazor, Soliman Alkrinawi, Vered Chalifa-Caspi, Esther Manor, Val C. Sheffield, Micha Aviram, Ruti Parvari

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 940 KB

english, 2011

3

The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis

Mehmet Bakircioglu, Ofélia P. Carvalho, Maryam Khurshid, James J. Cox, Beyhan Tuysuz, Tanyeri Barak, Saliha Yilmaz, Okay Caglayan, Alp Dincer, Adeline K. Nicholas, Oliver Quarrell, Kelly Springell, Gu

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 1.79 MB

english, 2011

4

Response to Bayley: Functional Study Informs Bioinformatic Analysis

Ying Ni, Charis Eng

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 34 KB

english, 2011

5

Risk Prediction of Complex Diseases from Family History and Known Susceptibility Loci, with Applications for Cancer Screening

Hon-Cheong So, Johnny S.H. Kwan, Stacey S. Cherny, Pak C. Sham

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 485 KB

english, 2011

6

Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP

Lisenka E.L.M. Vissers, Ekkehart Lausch, Sheila Unger, Ana Belinda Campos-Xavier, Christian Gilissen, Antonio Rossi, Marisol Del Rosario, Hanka Venselaar, Ute Knoll, Sheela Nampoothiri, Mohandas Nair,

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 954 KB

english, 2011

7

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

Fowzan S. Alkuraya, Xuyu Cai, Carina Emery, Ganeshwaran H. Mochida, Mohammed S. Al-Dosari, Jillian M. Felie, R. Sean Hill, Brenda J. Barry, Jennifer N. Partlow, Generoso G. Gascon, Amal Kentab, Mohamm

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 1.25 MB

english, 2011

8

Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6

Todor Arsov, Katherine R. Smith, John Damiano, Silvana Franceschetti, Laura Canafoglia, Catherine J. Bromhead, Eva Andermann, Danya F. Vears, Patrick Cossette, Sulekha Rajagopalan, Alan McDougall, Vit

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 333 KB

english, 2011

9

Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome

James O'Sullivan, Carolina C. Bitu, Sarah B. Daly, Jill E. Urquhart, Martin J. Barron, Sanjeev S. Bhaskar, Hercilio Martelli-Júnior, Pedro Eleuterio dos Santos Neto, Maria A. Mansilla, Jeffrey C. Murr

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 660 KB

english, 2011

10

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

Alexandra Götz, Henna Tyynismaa, Liliya Euro, Pekka Ellonen, Tuulia Hyötyläinen, Tiina Ojala, Riikka H. Hämäläinen, Johanna Tommiska, Taneli Raivio, Matej Oresic, Riitta Karikoski, Outi Tammela, Kalle

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 1.02 MB

english, 2011

11

Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss

Antje K. Huebner, Marta Gandia, Peter Frommolt, Anika Maak, Eva M. Wicklein, Holger Thiele, Janine Altmüller, Florian Wagner, Antonio Viñuela, Luis A. Aguirre, Felipe Moreno, Hannes Maier, Isabella Ra

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 802 KB

english, 2011

12

A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa

Goranka Tanackovic, Adriana Ransijn, Carmen Ayuso, Shyana Harper, Eliot L. Berson, Carlo Rivolta

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 860 KB

english, 2011

13

Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

Danai Bem, Shin-Ichiro Yoshimura, Ricardo Nunes-Bastos, Frances C. Bond, Manju A. Kurian, Fatima Rahman, Mark T.W. Handley, Yavor Hadzhiev, Imran Masood, Ania A. Straatman-Iwanowska, Andrew R. Cullina

Journal:

The American Journal of Human Genetics

Year:

2011

File:

PDF, 26 KB

2011

14

Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome

Xose S. Puente, Victor Quesada, Fernando G. Osorio, Rubén Cabanillas, Juan Cadiñanos, Julia M. Fraile, Gonzalo R. Ordóñez, Diana A. Puente, Ana Gutiérrez-Fernández, Miriam Fanjul-Fernández, Nicolas Lé

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 922 KB

english, 2011

15

A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia

Mark A. Corbett, Michael Schwake, Melanie Bahlo, Leanne M. Dibbens, Meng Lin, Luke C. Gandolfo, Danya F. Vears, John D. O'Sullivan, Thomas Robertson, Marta A. Bayly, Alison E. Gardner, Annemarie M. Vl

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 577 KB

english, 2011

16

Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment

Margit Schraders, Stefan A. Haas, Nicole J.D. Weegerink, Jaap Oostrik, Hao Hu, Lies H. Hoefsloot, Sriram Kannan, Patrick L.M. Huygen, Ronald J.E. Pennings, Ronald J.C. Admiraal, Vera M. Kalscheuer, He

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 587 KB

english, 2011

17

Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies

Laura Southgate, Rajiv D. Machado, Katie M. Snape, Martin Primeau, Dimitra Dafou, Deborah M. Ruddy, Peter A. Branney, Malcolm Fisher, Grace J. Lee, Michael A. Simpson, Yi He, Teisha Y. Bradshaw, Betti

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 1.15 MB

english, 2011

18

Random-Effects Model Aimed at Discovering Associations in Meta-Analysis of Genome-wide Association Studies

Buhm Han, Eleazar Eskin

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 668 KB

english, 2011

19

Genome-wide Association Study Identifies Four Genetic Loci Associated with Thyroid Volume and Goiter Risk

Alexander Teumer, Rajesh Rawal, Georg Homuth, Florian Ernst, Margit Heier, Matthias Evert, Frank Dombrowski, Uwe Völker, Matthias Nauck, Dörte Radke, Till Ittermann, Reiner Biffar, Angela Döring, Chri

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 903 KB

english, 2011

20

This Month in Genetics

Kathryn B. Garber

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 47 KB

english, 2011

21

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

Fowzan S. Alkuraya, Xuyu Cai, Carina Emery, Ganeshwaran H. Mochida, Mohammed S. Al-Dosari, Jillian M. Felie, R. Sean Hill, Brenda J. Barry, Jennifer N. Partlow, Generoso G. Gascon, Amal Kentab, Mohamm

Journal:

The American Journal of Human Genetics

Year:

2011

File:

PDF, 25 KB

2011

22

This Month in The Journal

Kathryn D. Bungartz, Robin E. Williamson

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 45 KB

english, 2011

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