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Copy number variation

GALC Deletions Increase the Risk of Primary Open-Angle Glaucoma: The Role of Mendelian Variants in Complex Disease

Yutao Liu, Jason Gibson, Joshua Wheeler, Lydia Coulter Kwee, Cecile M. Santiago-Turla, Stephen K. Akafo, Paul R. Lichter, Douglas E. Gaasterland, Sayoko E. Moroi, Pratap Challa, Leon W. Herndon, Christopher A. Girkin, Donald L. Budenz, Julia E. Richards, R. Rand Allingham, Michael A. Hauser

published 04 Nov 2011

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A Multi-Sample Based Method for Identifying Common CNVs in Normal Human Genomic Structure Using High-Resolution aCGH Data

Chihyun Park, Jaegyoon Ahn, Youngmi Yoon, Sanghyun Park

published 31 Oct 2011

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Suppression of the Imprinted Gene NNAT and X-Chromosome Gene Activation in Isogenic Human iPS Cells

Jonathan H. Teichroeb, Dean H. Betts, Homayoun Vaziri

published 12 Oct 2011

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Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk

Daria Salyakina, Holly N. Cukier, Joycelyn M. Lee, Stephanie Sacharow, Laura D. Nations, Deqiong Ma, James M. Jaworski, Ioanna Konidari, Patrice L. Whitehead, Harry H. Wright, Ruth K. Abramson, Scott M. Williams, Ramkumar Menon, Jonathan L. Haines, John R. Gilbert, Michael L. Cuccaro, Margaret A. Pericak-Vance

published 07 Oct 2011

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Genome-Wide Detection of Allele Specific Copy Number Variation Associated with Insulin Resistance in African Americans from the HyperGEN Study

Marguerite R. Irvin, Nathan E. Wineinger, Treva K. Rice, Nicholas M. Pajewski, Edmond K. Kabagambe, Charles C. Gu, Jim Pankow, Kari E. North, Jemma B. Wilk, Barry I. Freedman, Nora Franceschini, Uli Broeckel, Hemant K. Tiwari, Donna K. Arnett

published 25 Aug 2011

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Copy Number Variation across European Populations

Wanting Chen, Caroline Hayward, Alan F. Wright, Andrew A. Hicks, Veronique Vitart, Sara Knott, Sarah H. Wild, Peter P. Pramstaller, James F. Wilson, Igor Rudan, David J. Porteous

published 04 Aug 2011

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Determination of the Loss of Function Complement C4 Exon 29 CT Insertion Using a Novel Paralog-Specific Assay in Healthy UK and Spanish Populations

Lora Boteva, IMAGEN , Yee Ling Wu, Josefina Cortes-Hernández, Javier Martin, Timothy J. Vyse, Michelle M. A. Fernando

published 03 Aug 2011

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Copy Number Variation in Familial Parkinson Disease

Nathan Pankratz, Alexandra Dumitriu, Kurt N. Hetrick, Mei Sun, Jeanne C. Latourelle, Jemma B. Wilk, Cheryl Halter, Kimberly F. Doheny, James F. Gusella, William C. Nichols, Richard H. Myers, Tatiana Foroud, Anita L. DeStefano, the PSG–PROGENI and GenePD Investigators, Coordinators and Molecular Genetic Laboratories

published 02 Aug 2011

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Copy Number Variation in CNP267 Region May Be Associated with Hip Bone Size

Shan-Lin Liu, Shu-Feng Lei, Fang Yang, Xi Li, Rong Liu, Shan Nie, Xiao-Gang Liu, Tie-Lin Yang, Yan Guo, Fei-Yan Deng, Qing Tian, Jian Li, Yao-Zhong Liu, Yong-Jun Liu, Hui Shen, Hong-Wen Deng

published 15 Jul 2011

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PanSNPdb: The Pan-Asian SNP Genotyping Database

Chumpol Ngamphiw, Anunchai Assawamakin, Shuhua Xu, Philip J. Shaw, Jin Ok Yang, Ho Ghang, Jong Bhak, Edison Liu, Sissades Tongsima, and the HUGO Pan-Asian SNP Consortium

published 23 Jun 2011

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The Characterisation of Three Types of Genes that Overlie Copy Number Variable Regions

Cara Woodwark, Alex Bateman

published 26 May 2011

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Novel Polymorphisms in Plasmodium falciparum ABC Transporter Genes Are Associated with Major ACT Antimalarial Drug Resistance

Maria Isabel Veiga, Pedro Eduardo Ferreira, Louise Jörnhagen, Maja Malmberg, Aminatou Kone, Berit Aydin Schmidt, Max Petzold, Anders Björkman, Francois Nosten, Jose Pedro Gil

published 25 May 2011

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The Genetic Effect of Copy Number Variations on the Risk of Type 2 Diabetes in a Korean Population

Joon Seol Bae, Hyun Sub Cheong, Ji-Hong Kim, Byung Lae Park, Jeong-Hyun Kim, Tae Joon Park, Jason Yongha Kim, Charisse Flerida A. Pasaje, Jin Sol Lee, Yun-Ju Park, Miey Park, Chan Park, InSong Koh, Yeun-Jun Chung, Jong-Young Lee, Hyoung Doo Shin

published 22 Apr 2011

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