Volume 82; Issue 1

The American Journal of Human Genetics

Volume 82; Issue 1

1

Two Sources of the Russian Patrilineal Heritage in Their Eurasian Context

Oleg Balanovsky, Siiri Rootsi, Andrey Pshenichnov, Toomas Kivisild, Michail Churnosov, Irina Evseeva, Elvira Pocheshkhova, Margarita Boldyreva, Nikolay Yankovsky, Elena Balanovska, Richard Villems

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 2.03 MB

english, 2008

2

A Statistical Method for Predicting Classical HLA Alleles from SNP Data

Stephen Leslie, Peter Donnelly, Gil McVean

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 47 KB

english, 2008

3

Autosomal-Dominant Microtia Linked to Five Tandem Copies of a Copy-Number-Variable Region at Chromosome 4p16

Irina Balikova, Kevin Martens, Cindy Melotte, Mustapha Amyere, Steven Van Vooren, Yves Moreau, David Vetrie, Heike Fiegler, Nigel P. Carter, Thomas Liehr, Miikka Vikkula, Gert Matthijs, Jean-Pierre Fr

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.07 MB

english, 2008

4

Mutations in KCNJ13 Cause Autosomal-Dominant Snowflake Vitreoretinal Degeneration

J. Fielding Hejtmancik, Xiaodong Jiao, Anren Li, Yuri V. Sergeev, Xiaoyan Ding, Anil K. Sharma, Chi-Chao Chan, Igor Medina, Albert O. Edwards

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 944 KB

english, 2008

5

C6ORF66 Is an Assembly Factor of Mitochondrial Complex I

Ann Saada, Simon Edvardson, Matan Rapoport, Avraham Shaag, Khaled Amry, Chaya Miller, Haya Lorberboum-Galski, Orly Elpeleg

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 916 KB

english, 2008

6

Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

Rosemary Burgess, Ian D. Millar, Bart P. Leroy, Jill E. Urquhart, Ian M. Fearon, Elfrida De Baere, Peter D. Brown, Anthony G. Robson, Genevieve A. Wright, Philippe Kestelyn, Graham E. Holder, Andrew R

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.65 MB

english, 2008

7

SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4

Hannah Mandel, Revital Shemer, Zvi U. Borochowitz, Marina Okopnik, Carlos Knopf, Margarita Indelman, Arie Drugan, Dov Tiosano, Ruth Gershoni-Baruch, Mordechai Choder, Eli Sprecher

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.52 MB

english, 2008

8

Oncostatin M Receptor-β Mutations Underlie Familial Primary Localized Cutaneous Amyloidosis

Ken Arita, Andrew P. South, Günter Hans-Filho, Thais Harumi Sakuma, Joey Lai-Cheong, Suzanne Clements, Maçanori Odashiro, Danilo Nakao Odashiro, Günter Hans-Neto, Nelise Ritter Hans, Maxine V. Holder,

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 894 KB

english, 2008

9

Admixture Mapping of White Cell Count: Genetic Locus Responsible for Lower White Blood Cell Count in the Health ABC and Jackson Heart Studies

Michael A. Nalls, James G. Wilson, Nick J. Patterson, Arti Tandon, Joseph M. Zmuda, Scott Huntsman, Melissa Garcia, Donglei Hu, Rongling Li, Brock A. Beamer, Kushang V. Patel, Ermeg L. Akylbekova, Joe

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 301 KB

english, 2008

10

An X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy, Termed XMPMA, Is Caused by Mutations in FHL1

Christian Windpassinger, Benedikt Schoser, Volker Straub, Sonja Hochmeister, Abdul Noor, Birgit Lohberger, Natalie Farra, Erwin Petek, Thomas Schwarzbraun, Lisa Ofner, Wolfgang N. Löscher, Klaus Wagne

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.29 MB

english, 2008

11

Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene

Maricela Alarcón, Brett S. Abrahams, Jennifer L. Stone, Jacqueline A. Duvall, Julia V. Perederiy, Jamee M. Bomar, Jonathan Sebat, Michael Wigler, Christa L. Martin, David H. Ledbetter, Stanley F. Nels

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 810 KB

english, 2008

12

Shifting Paradigm of Association Studies: Value of Rare Single-Nucleotide Polymorphisms

Ivan P. Gorlov, Olga Y. Gorlova, Shamil R. Sunyaev, Margaret R. Spitz, Christopher I. Amos

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 977 KB

english, 2008

13

Effective Gene Therapy of Mice with Congenital Erythropoietic Porphyria Is Facilitated by a Survival Advantage of Corrected Erythroid Cells

Elodie Robert-Richard, François Moreau-Gaudry, Magalie Lalanne, Isabelle Lamrissi-Garcia, Muriel Cario-André, Véronique Guyonnet-Dupérat, Laurence Taine, Cécile Ged, Hubert de Verneuil

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.03 MB

english, 2008

14

Mutations of ESRRB Encoding Estrogen-Related Receptor Beta Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB35

Rob W.J. Collin, Ersan Kalay, Muhammad Tariq, Theo Peters, Bert van der Zwaag, Hanka Venselaar, Jaap Oostrik, Kwanghyuk Lee, Zubair M. Ahmed, Refik Çaylan, Yun Li, Henk A. Spierenburg, Erol Eyupoglu,

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 2.04 MB

english, 2008

15

Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy

Juliane Ramser, Mary Ellen Ahearn, Claus Lenski, Kemal O. Yariz, Heide Hellebrand, Michael von Rhein, Robin D. Clark, Rita K. Schmutzler, Peter Lichtner, Eric P. Hoffman, Alfons Meindl, Lisa Baumbach-

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 612 KB

english, 2008

16

Genome-wide Analysis Indicates More Asian than Melanesian Ancestry of Polynesians

Manfred Kayser, Oscar Lao, Kathrin Saar, Silke Brauer, Xingyu Wang, Peter Nürnberg, Ronald J. Trent, Mark Stoneking

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 140 KB

english, 2008

17

Disruption of Neurexin 1 Associated with Autism Spectrum Disorder

Hyung-Goo Kim, Shotaro Kishikawa, Anne W. Higgins, Ihn-Sik Seong, Diana J. Donovan, Yiping Shen, Eric Lally, Lauren A. Weiss, Juliane Najm, Kerstin Kutsche, Maria Descartes, Lynn Holt, Stephen Braddoc

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 964 KB

english, 2008

18

Independent Introduction of Two Lactase-Persistence Alleles into Human Populations Reflects Different History of Adaptation to Milk Culture

Nabil Sabri Enattah, Tine G.K. Jensen, Mette Nielsen, Rikke Lewinski, Mikko Kuokkanen, Heli Rasinpera, Hatem El-Shanti, Jeong Kee Seo, Michael Alifrangis, Insaf F. Khalil, Abdrazak Natah, Ahmed Ali, S

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.28 MB

english, 2008

19

X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1

Catarina M. Quinzii, Tuan H. Vu, K. Christopher Min, Kurenai Tanji, Sandra Barral, Raji P. Grewal, Andrea Kattah, Pilir Camaño, David Otaegui, Teruhito Kunimatsu, David M. Blake, Kirk C. Wilhelmsen, L

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 542 KB

english, 2008

20

22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

Shay Ben-Shachar, Zhishuo Ou, Chad A. Shaw, John W. Belmont, Millan S. Patel, Marybeth Hummel, Stephen Amato, Nicole Tartaglia, Jonathan Berg, V. Reid Sutton, Seema R. Lalani, A. Craig Chinault, Sau W

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 589 KB

english, 2008

21

A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism

Dan E. Arking, David J. Cutler, Camille W. Brune, Tanya M. Teslovich, Kristen West, Morna Ikeda, Alexis Rea, Moltu Guy, Shin Lin, Edwin H. Cook Jr., Aravinda Chakravarti

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 481 KB

english, 2008

22

Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients

Julie Vogt, Benjamin J. Harrison, Hayley Spearman, Judy Cossins, Sascha Vermeer, Lambert Naudin ten Cate, Neil V. Morgan, David Beeson, Eamonn R. Maher

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 642 KB

english, 2008

23

Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders

Betul Bakkaloglu, Brian J. O'Roak, Angeliki Louvi, Abha R. Gupta, Jesse F. Abelson, Thomas M. Morgan, Katarzyna Chawarska, Ami Klin, A. Gulhan Ercan-Sencicek, Althea A. Stillman, Gamze Tanriover, Bret

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.08 MB

english, 2008

24

Nature of Mitochondrial DNA Deletions in Substantia Nigra Neurons

Amy K. Reeve, Kim J. Krishnan, Joanna L. Elson, Christopher M. Morris, Andreas Bender, Robert N. Lightowlers, Douglass M. Turnbull

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 702 KB

english, 2008

25

Genome-wide Association Study Identifies Genes for Biomarkers of Cardiovascular Disease: Serum Urate and Dyslipidemia

Chris Wallace, Stephen J. Newhouse, Peter Braund, Feng Zhang, Martin Tobin, Mario Falchi, Kourosh Ahmadi, Richard J. Dobson, Ana Carolina B. Marçano, Cother Hajat, Paul Burton, Panagiotis Deloukas, Mo

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 507 KB

english, 2008

26

Resuscitation and Evolution of a Classic

Reed E. Pyeritz

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 39 KB

english, 2008

27

Unraveling Autism

Dietrich A. Stephan

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 50 KB

english, 2008

28

This Month in Genetics

Kathryn B. Garber

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 44 KB

english, 2008

29

This Month in the Journal

Robin E. Williamson

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 45 KB

english, 2008

30

Announcements

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 61 KB

english, 2008

31

Polymorphisms within the C-Reactive Protein (CRP) Promoter Region Are Associated with Plasma CRP Levels

Christopher S. Carlson, Shelley Force Aldred, Philip K. Lee, Russell P. Tracy, Stephen M. Schwartz, Mark Rieder, Kiang Liu, O. Dale Williams, Carlos Iribarren, E. Cora Lewis, Myriam Fornage, Eric Boer

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 27 KB

english, 2008

32

Allele-Specific Targeting of microRNAs to HLA-G and Risk of Asthma

Zheng Tan, Glenn Randall, Jihua Fan, Blanca Camoretti-Mercado, Rebecca Brockman-Schneider, Lin Pan, Julian Solway, James E. Gern, Robert F. Lemanske Jr., Dan Nicolae, Carole Ober

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 27 KB

english, 2008

33

Canine Behavioral Genetics: Pointing Out the Phenotypes and Herding up the Genes

Tyrone C. Spady, Elaine A. Ostrander

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 421 KB

english, 2008