My NCBISign In
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

Is Cited by the Following 22 Articles in this Archive:

Genomic Hypomethylation in the Human Germline Associates with Selective Structural Mutability in the Human Genome
Jian Li, R. Alan Harris, Sau Wai Cheung, Cristian Coarfa, Mira Jeong, Margaret A. Goodell, Lisa D. White, Ankita Patel, Sung-Hae Kang, Chad Shaw, A. Craig Chinault, Tomasz Gambin, Anna Gambin, James R. Lupski, Aleksandar Milosavljevic
PLoS Genet. 2012 May; 8(5): e1002692. Published online 2012 May 17. doi: 10.1371/journal.pgen.1002692
PMCID:
PMC3355074
Abstract Full Text PDF–1.0M Supplementary Material
Frequency of Nonallelic Homologous Recombination Is Correlated with Length of Homology: Evidence that Ectopic Synapsis Precedes Ectopic Crossing-Over
Pengfei Liu, Melanie Lacaria, Feng Zhang, Marjorie Withers, P.J. Hastings, James R. Lupski
Am J Hum Genet. 2011 October 7; 89(4): 580–588. doi: 10.1016/j.ajhg.2011.09.009
PMCID:
PMC3188830
Abstract Full Text PDF–429K Supplementary Material
The landscape of inherited and de novo copy number variants in a plasmodium falciparum genetic cross
Upeka Samarakoon, Joseph M Gonzales, Jigar J Patel, Asako Tan, Lisa Checkley, Michael T Ferdig
BMC Genomics. 2011; 12: 457. Published online 2011 September 22. doi: 10.1186/1471-2164-12-457
PMCID:
PMC3191341
Abstract Full Text PDF–1.9M Supplementary Material
Context-based FISH localization of genomic rearrangements within chromosome 15q11.2q13 duplicons
Wahab A Khan, Joan HM Knoll, Peter K Rogan
Mol Cytogenet. 2011; 4: 15. Published online 2011 August 8. doi: 10.1186/1755-8166-4-15
PMCID:
PMC3171312
Abstract Full Text PDF–3.3M Supplementary Material
Genomic medicine and neurological disease
Philip M. Boone, Wojciech Wiszniewski, James R. Lupski
Hum Genet. Author manuscript; available in PMC 2012 July 1.
Published in final edited form as: Hum Genet. 2011 July; 130(1): 103–121. Published online 2011 May 19. doi: 10.1007/s00439-011-1001-1
PMCID:
PMC3133694
Free in PMC on 2012/07/01
The phenotype of recurrent 10q22q23 deletions and duplications
Bregje W M van Bon, Jorune Balciuniene, Gary Fruhman, Sandesh Chakravarthy Sreenath Nagamani, Diane L Broome, Elizabeth Cameron, Danielle Martinet, Eliane Roulet, Sebastien Jacquemont, Jacques S Beckmann, Mira Irons, Lorraine Potocki, Brendan Lee, Sau Wai Cheung, Ankita Patel, Melissa Bellini, Angelo Selicorni, Roberto Ciccone, Margherita Silengo, Annalisa Vetro, Nine V Knoers, Nicole de Leeuw, Rolph Pfundt, Barry Wolf, Petr Jira, Swaroop Aradhya, Pawel Stankiewicz, Han G Brunner, Orsetta Zuffardi, Scott B Selleck, James R Lupski, Bert B A de Vries
Eur J Hum Genet. 2011 April; 19(4): 400–408. Published online 2011 January 19. doi: 10.1038/ejhg.2010.211
PMCID:
PMC3060324
Abstract Full Text PDF–568K Supplementary Material
The Severe End of the Spectrum: Hypoplastic Left Heart in Potocki-Lupski syndrome
Amarilis Sanchez-Valle, Mary Ella Pierpont, Lorraine Potocki
Am J Med Genet A. Author manuscript; available in PMC 2012 February 1.
Published in final edited form as: Am J Med Genet A. 2011 February; 155(2): 363–366. Published online 2011 January 13. doi: 10.1002/ajmg.a.33844
PMCID:
PMC3092288
Abstract Full Text PDF–305K
Structural variation of the human genome: mechanisms, assays, and role in male infertility
Claudia M.B. Carvalho, Feng Zhang, James R. Lupski
Syst Biol Reprod Med. Author manuscript; available in PMC 2012 February 1.
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
Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models
Guénola Ricard, Jessica Molina, Jacqueline Chrast, Wenli Gu, Nele Gheldof, Sylvain Pradervand, Frédéric Schütz, Juan I. Young, James R. Lupski, Alexandre Reymond, Katherina Walz
PLoS Biol. 2010 November; 8(11): e1000543. Published online 2010 November 23. doi: 10.1371/journal.pbio.1000543
PMCID:
PMC2990707
Abstract Full Text PDF–792K Supplementary Material
Detection of Clinically Relevant Exonic Copy-Number Changes by Array CGH
Philip M. Boone, Carlos A. Bacino, Chad A. Shaw, Patricia A. Eng, Patricia M. Hixson, Amber N. Pursley, Sung-Hae L. Kang, Yaping Yang, Joanna Wiszniewska, Beata A. Nowakowska, Daniela del Gaudio, Zhilian Xia, Gayle Simpson-Patel, LaDonna L. Immken, James B. Gibson, Anne C.-H. Tsai, Jennifer A. Bowers, Tyler E. Reimschisel, Christian P. Schaaf, Lorraine Potocki, Fernando Scaglia, Tomasz Gambin, Maciej Sykulski, Magdalena Bartnik, Katarzyna Derwinska, Barbara Wisniowiecka-Kowalnik, Seema R. Lalani, Frank J. Probst, Weimin Bi, Arthur L. Beaudet, Ankita Patel, James R. Lupski, Sau Wai Cheung, Pawel Stankiewicz
Hum Mutat. Author manuscript; available in PMC 2011 August 19.
Published in final edited form as: Hum Mutat. 2010 December; 31(12): 1326–1342. Published online 2010 November 2. doi: 10.1002/humu.21360
PMCID:
PMC3158569
Abstract Full Text PDF–2.9M Supplementary Material
Neurogenetics: Advancing the “Next-Generation” of Brain Research
Huda Y. Zoghbi, Stephen T. Warren
Neuron. Author manuscript; available in PMC 2011 October 21.
Published in final edited form as: Neuron. 2010 October 21; 68(2): 165–173. doi: 10.1016/j.neuron.2010.10.015
PMCID:
PMC2982747
Abstract Full Text PDF–87K
HUMAN DHX9 HELICASE UNWINDS TRIPLE HELICAL DNA STRUCTURES
Aklank Jain, Albino Bacolla, Prasun Chakraborty, Frank Grosse, Karen M. Vasquez
Biochemistry. Author manuscript; available in PMC 2011 August 24.
Published in final edited form as: Biochemistry. 2010 August 24; 49(33): 6992–6999. doi: 10.1021/bi100795m
PMCID:
PMC2949957
Abstract Full Text PDF–2.0M Supplementary Material
A multilevel model to address batch effects in copy number estimation using SNP arrays
Robert B. Scharpf, Ingo Ruczinski, Benilton Carvalho, Betty Doan, Aravinda Chakravarti, Rafael A. Irizarry
Biostatistics. 2011 January; 12(1): 33–50. Published online 2010 July 12. doi: 10.1093/biostatistics/kxq043
PMCID:
PMC3006124
Abstract Full Text PDF–553K Supplementary Material
Crystal Structures of DNA-Whirly Complexes and Their Role in Arabidopsis Organelle Genome Repair
Laurent Cappadocia, Alexandre Maréchal, Jean-Sébastien Parent, Étienne Lepage, Jurgen Sygusch, Normand Brisson
Plant Cell. 2010 June; 22(6): 1849–1867. Published online 2010 June 15. doi: 10.1105/tpc.109.071399
PMCID:
PMC2910959
Abstract Full Text PDF–1.9M
Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability
Feng Zhang, Pavel Seeman, Pengfei Liu, Marian A.J. Weterman, Claudia Gonzaga-Jauregui, Charles F. Towne, Sat Dev Batish, Els De Vriendt, Peter De Jonghe, Bernd Rautenstrauss, Klaus-Henning Krause, Mehrdad Khajavi, Jan Posadka, Antoon Vandenberghe, Francesc Palau, Lionel Van Maldergem, Frank Baas, Vincent Timmerman, James R. Lupski
Am J Hum Genet. 2010 June 11; 86(6): 892–903. doi: 10.1016/j.ajhg.2010.05.001
PMCID:
PMC3032071
Abstract Full Text PDF–998K Supplementary Material
Single gene disorders come into focus - again
Hans-Hilger Ropers
Dialogues Clin Neurosci. 2010 March; 12(1): 95–102.
PMCID:
PMC3181948
Abstract Full Text PDF–1.1M
Genetic architecture of a complex trait and its implications for fitness and genome-wide association studies
Adam Eyre-Walker
Proc Natl Acad Sci U S A. 2010 January 26; 107(suppl_1): 1752–1756. Published online 2010 January 19. doi: 10.1073/pnas.0906182107
PMCID:
PMC2868283
Abstract Full Text PDF–737K
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
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
Marwan Shinawi, Pengfei Liu, Sung-Hae L Kang, Joseph Shen, John W Belmont, Daryl A Scott, Frank J Probst, William J Craigen, Brett H Graham, Amber Pursley, Gary Clark, Jennifer Lee, Monica Proud, Amber Stocco, Diana L Rodriguez, Beth A Kozel, Steven Sparagana, Elizabeth R Roeder, Susan G McGrew, Thaddeus W Kurczynski, Leslie J Allison, Stephen Amato, Sarah Savage, Ankita Patel, Pawel Stankiewicz, Arthur L Beaudet, Sau Wai Cheung, James R Lupski
J Med Genet. Author manuscript; available in PMC 2011 August 19.
Published in final edited form as: J Med Genet. 2010 May; 47(5): 332–341. Published online 2009 November 12. doi: 10.1136/jmg.2009.073015
PMCID:
PMC3158566
Abstract Full Text PDF–2.0M Supplementary Material
Targeted interrogation of copy number variation using SCIMMkit
Troy Zerr, Gregory M. Cooper, Evan E. Eichler, Deborah A. Nickerson
Bioinformatics. 2010 January 1; 26(1): 120–122. Published online 2009 October 21. doi: 10.1093/bioinformatics/btp606
PMCID:
PMC2796813
Abstract Full Text PDF–115K Supplementary Material
Parasite-host interaction in malaria: genetic clues and copy number variation
Imad Faik, Elisandra Grangeiro de Carvalho, Jürgen FJ Kun
Genome Med. 2009; 1(9): 82. Published online 2009 September 2. doi: 10.1186/gm82
PMCID:
PMC2768989
Abstract Full Text PDF–1.0M
Dealing with dangerous accidents: DNA double-strand breaks take centre stage. Symposium on Genome Instability and DNA Repair
Vincenzo Costanzo, Jayanta Chaudhuri, Jennifer C Fung, John V Moran
EMBO Rep. 2009 August; 10(8): 837–842. Published online 2009 July 17. doi: 10.1038/embor.2009.173
PMCID:
PMC2726687
Full Text PDF–436K
You are here: NCBI > Literature > PubMed Central (PMC)
Write to the Help Desk