Published in final edited form as: Syst Biol Reprod Med. 2011 February; 57(1-2): 3–16. Published online 2011 January 6. doi: 10.3109/19396368.2010.527427

PMCID:: PMC3179416

Abstract Full Text PDF–632K

Structures and Molecular Mechanisms for Common 15q13.3 Microduplications Involving CHRNA7: Benign or Pathological?

Przemyslaw Szafranski, Christian P. Schaaf, Richard E. Person, Ian B. Gibson, Zhilian Xia, Sangeetha Mahadevan, Joanna Wiszniewska, Carlos A. Bacino, Seema Lalani, Lorraine Potocki, Sung-Hae Kang, Ankita Patel, Sau Wai Cheung, Frank J. Probst, Brett H. Graham, Marwan Shinawi, Arthur L. Beaudet, Pawel Stankiewicz

Hum Mutat. Author manuscript; available in PMC 2011 August 26.

Published in final edited form as: Hum Mutat. 2010 July; 31(7): 840–850. doi: 10.1002/humu.21284

PMCID:: PMC3162316

Abstract Full Text PDF–1.2M Supplementary Material

Functional PMS2 Hybrid Alleles Containing a Pseudogene-Specific Missense Variant Trace Back to a Single Ancient Intrachromosomal Recombination Event

Christina Ganster, Annekatrin Wernstedt, Hildegard Kehrer-Sawatzki, Ludwine Messiaen, Konrad Schmidt, Nils Rahner, Karl Heinimann, Christa Fonatsch, Johannes Zschocke, Katharina Wimmer

Hum Mutat. Author manuscript; available in PMC 2012 May 1.

Published in final edited form as: Hum Mutat. 2010 May; 31(5): 552–560. doi: 10.1002/humu.21223

PMCID:: PMC3341089

Abstract Full Text PDF–1.0M Supplementary Material

Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS

Feng Zhang, Lorraine Potocki, Jacinda B. Sampson, Pengfei Liu, Amarilis Sanchez-Valle, Patricia Robbins-Furman, Alicia Delicado Navarro, Patricia G. Wheeler, J. Edward Spence, Campbell K. Brasington, Marjorie A. Withers, James R. Lupski

Am J Hum Genet. 2010 March 12; 86(3): 462–470. doi: 10.1016/j.ajhg.2010.02.001

PMCID:: PMC2833368

Abstract Full Text PDF–692K Supplementary Material

Genomic disorders: A window into human gene and genome evolution

Claudia M. B. Carvalho, Feng Zhang, James R. Lupski

Proc Natl Acad Sci U S A. 2010 January 26; 107(suppl_1): 1765–1771. Published online 2010 January 13. doi: 10.1073/pnas.0906222107

PMCID:: PMC2868291

Abstract Full Text PDF–791K

A mitotic recombination map proximal to the APC locus on chromosome 5q and assessment of influences on colorectal cancer risk

Kimberley Howarth, Susanna Ranta, Eitan Winter, Ana Teixeira, Helmut Schaschl, John J Harvey, Andrew Rowan, Angela Jones, Sarah Spain, Susan Clark, Thomas Guenther, Aengus Stewart, Andrew Silver, Ian Tomlinson

BMC Med Genet. 2009; 10: 54. Published online 2009 June 10. doi: 10.1186/1471-2350-10-54

PMCID:: PMC2705358

Abstract Full Text PDF–1.5M Supplementary Material

Genomic disorders ten years on

James R Lupski

Genome Med. 2009; 1(4): 42. Published online 2009 April 24. doi: 10.1186/gm42

PMCID:: PMC2684663

Abstract Full Text PDF–465K

Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting

S. Goobie, J. Knijnenburg, D. FitzPatrick, F.H. Sharkey, A.C. Lionel, C.R. Marshall, T. Azam, M. Shago, K. Chong, R. Mendoza-Londono, N.S. den Hollander, C. Ruivenkamp, E. Maher, H.J. Tanke, K. Szuhai, R.F. Wintle, S.W. Scherer

Cytogenet Genome Res. 2009 March; 123(1-4): 65–78. doi: 10.1159/000184693

PMCID:: PMC2920184

Abstract Full Text PDF–642K

Mechanisms for human genomic rearrangements

Wenli Gu, Feng Zhang, James R Lupski

Pathogenetics. 2008; 1: 4. Published online 2008 November 3. doi: 10.1186/1755-8417-1-4

PMCID:: PMC2583991

Abstract Full Text PDF–748K

Functional Copy-Number Alterations in Cancer

Barry S. Taylor, Jordi Barretina, Nicholas D. Socci, Penelope DeCarolis, Marc Ladanyi, Matthew Meyerson, Samuel Singer, Chris Sander

PLoS ONE. 2008; 3(9): e3179. Published online 2008 September 11. doi: 10.1371/journal.pone.0003179

PMCID:: PMC2527508

Abstract Full Text PDF–608K Supplementary Material

Repetitive sequence environment distinguishes housekeeping genes

C. Daniel Eller, Moira Regelson, Barry Merriman, Stan Nelson, Steve Horvath, York Marahrens

Gene. Author manuscript; available in PMC 2007 April 26.

Published in final edited form as: Gene. 2007 April 1; 390(1-2): 153–165. Published online 2006 October 5. doi: 10.1016/j.gene.2006.09.018

PMCID:: PMC1857324

Abstract Full Text PDF–769K Supplementary Material

A Chromosomal Rearrangement Hotspot Can Be Identified from Population Genetic Variation and Is Coincident with a Hotspot for Allelic Recombination

Sarah J. Lindsay, Mehrdad Khajavi, James R. Lupski, Matthew E. Hurles

Am J Hum Genet. 2006 November; 79(5): 890–902. Published online 2006 September 26.

PMCID:: PMC1698570

Abstract Full Text PDF–1.5M

Assaying chromosomal inversions by single molecule haplotyping

Daniel J Turner, Jay Shendure, Greg Porreca, George Church, Peter Green, Chris Tyler-Smith, Matthew E Hurles

Nat Methods. Author manuscript; available in PMC 2009 June 3.

Published in final edited form as: Nat Methods. 2006 June; 3(6): 439–445. doi: 10.1038/nmeth881

PMCID:: PMC2690135

Abstract Full Text PDF–1.1M Supplementary Material

Hotspots for copy number variation in chimpanzees and humans

George H. Perry, Joelle Tchinda, Sean D. McGrath, Junjun Zhang, Simon R. Picker, Angela M. Cáceres, A. John Iafrate, Chris Tyler-Smith, Stephen W. Scherer, Evan E. Eichler, Anne C. Stone, Charles Lee

Proc Natl Acad Sci U S A. 2006 May 23; 103(21): 8006–8011. Published online 2006 May 15. doi: 10.1073/pnas.0602318103