Volume 89; Issue 6

The American Journal of Human Genetics

Volume 89; Issue 6

1

Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia

Mohammed A. Aldahmesh, Jawahir Y. Mohamed, Hisham S. Alkuraya, Ishwar C. Verma, Ratna D. Puri, Ayodele A. Alaiya, William B. Rizzo, Fowzan S. Alkuraya

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 696 KB

english, 2011

2

Blood Pressure Loci Identified with a Gene-Centric Array

Toby Johnson, Tom R. Gaunt, Stephen J. Newhouse, Sandosh Padmanabhan, Maciej Tomaszewski, Meena Kumari, Richard W. Morris, Ioanna Tzoulaki, Eoin T. O'Brien, Neil R. Poulter, Peter Sever, Denis C. Shie

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 1011 KB

english, 2011

3

Genome-wide Association of Copy-Number Variation Reveals an Association between Short Stature and the Presence of Low-Frequency Genomic Deletions

Andrew Dauber, Yongguo Yu, Michael C. Turchin, Charleston W. Chiang, Yan A. Meng, Ellen W. Demerath, Sanjay R. Patel, Stephen S. Rich, Jerome I. Rotter, Pamela J. Schreiner, James G. Wilson, Yiping Sh

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 235 KB

english, 2011

4

Whole-Exome Sequencing Identifies Mutations of KIF22 in Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type

Byung-Joo Min, Namshin Kim, Taesu Chung, Ok-Hwa Kim, Gen Nishimura, Chin Youb Chung, Hae Ryong Song, Hyun Woo Kim, Hye Ran Lee, Jiwoong Kim, Tae-Hoon Kang, Myung-Eui Seo, San-Deok Yang, Do-Hwan Kim, S

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 549 KB

english, 2011

5

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 Tanackovich, Generoso Andria, Diana Ballhausen, Michael D. Briggs, Claire Hartley, Daniel H.

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 506 KB

english, 2011

6

Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects

Agnès Bloch-Zupan, Xavier Jamet, Christelle Etard, Virginie Laugel, Jean Muller, Véronique Geoffroy, Jean-Pierre Strauss, Valérie Pelletier, Vincent Marion, Olivier Poch, Uwe Strahle, Corinne Stoetzel

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 732 KB

english, 2011

7

Finding Disease Variants in Mendelian Disorders By Using Sequence Data: Methods and Applications

Iuliana Ionita-Laza, Vlad Makarov, Seungtai Yoon, Benjamin Raby, Joseph Buxbaum, Dan L. Nicolae, Xihong Lin

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 620 KB

english, 2011

8

Biallelic Mutations in PLA2G5, Encoding Group V Phospholipase A2, Cause Benign Fleck Retina

Panagiotis I. Sergouniotis, Alice E. Davidson, Donna S. Mackay, Eva Lenassi, Zheng Li, Anthony G. Robson, Xu Yang, Jaimie Hoh Kam, Timothy W. Isaacs, Graham E. Holder, Glen Jeffery, Jonathan A. Beck,

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 1.25 MB

english, 2011

9

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

Lijia Huang, Katarzyna Szymanska, Victor L. Jensen, Andreas R. Janecke, A. Micheil Innes, Erica E. Davis, Patrick Frosk, Chunmei Li, Jason R. Willer, Bernard N. Chodirker, Cheryl R. Greenberg, D. Ross

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 2.05 MB

english, 2011

10

Dissecting the Genetics of Complex Inheritance: Linkage Disequilibrium Mapping Provides Insight into Crohn Disease

Heather Elding, Winston Lau, Dallas M. Swallow, Nikolas Maniatis

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 369 KB

english, 2011

11

Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway

Johannes A. Mayr, Peter Freisinger, Kurt Schlachter, Boris Rolinski, Franz A. Zimmermann, Thomas Scheffner, Tobias B. Haack, Johannes Koch, Uwe Ahting, Holger Prokisch, Wolfgang Sperl

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 474 KB

english, 2011

12

Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans

Ilse Feenstra, Lisenka E.L.M. Vissers, Ronald J.E. Pennings, Willy Nillessen, Rolph Pfundt, Henricus P. Kunst, Ronald J. Admiraal, Joris A. Veltman, Conny M.A. van Ravenswaaij-Arts, Han G. Brunner, Co

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 558 KB

english, 2011

13

This Month in The Journal

Kathryn D. Bungartz

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 44 KB

english, 2011

14

Shared and Unique Components of Human Population Structure and Genome-Wide Signals of Positive Selection in South Asia

Mait Metspalu, Irene Gallego Romero, Bayazit Yunusbayev, Gyaneshwer Chaubey, Chandana Basu Mallick, Georgi Hudjashov, Mari Nelis, Reedik Mägi, Ene Metspalu, Maido Remm, Ramasamy Pitchappan, Lalji Sing

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 1.75 MB

english, 2011

15

Lipoic Acid Synthetase Deficiency Causes Neonatal-Onset Epilepsy, Defective Mitochondrial Energy Metabolism, and Glycine Elevation

Johannes A. Mayr, Franz A. Zimmermann, Christine Fauth, Christa Bergheim, David Meierhofer, Doris Radmayr, Johannes Zschocke, Johannes Koch, Wolfgang Sperl

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 491 KB

english, 2011

16

This Month in Genetics

Kathryn B. Garber

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 48 KB

english, 2011

17

Time to Say Goodbye …

Cynthia Casson Morton

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 129 KB

english, 2011