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Items: 6

1.
Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype
Lorraine Potocki, Weimin Bi, Diane Treadwell-Deering, Claudia M. B. Carvalho, Anna Eifert, Ellen M. Friedman, Daniel Glaze, Kevin Krull, Jennifer A. Lee, Richard Alan Lewis, Roberto Mendoza-Londono, Patricia Robbins-Furman, Chad Shaw, Xin Shi, George Weissenberger, Marjorie Withers, Svetlana A. Yatsenko, Elaine H. Zackai, Pawel Stankiewicz, James R. Lupski
Am J Hum Genet. 2007 Apr; 80(4): 633–649. Published online 2007 Feb 26. doi: 10.1086/512864
PMCID:
PMC1852712
AbstractArticlePDF–920K
2.
Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).
F Greenberg, V Guzzetta, R Montes de Oca-Luna, R E Magenis, A C Smith, S F Richter, I Kondo, W B Dobyns, P I Patel, J R Lupski
Am J Hum Genet. 1991 Dec; 49(6): 1207–1218.
PMCID:
PMC1686451
SummaryPage BrowsePDF–1.9M
3.
Genetic Proof of Unequal Meiotic Crossovers in Reciprocal Deletion and Duplication of 17p11.2
Christine J. Shaw, Weimin Bi, James R. Lupski
Am J Hum Genet. 2002 Nov; 71(5): 1072–1081. Published online 2002 Oct 9. doi: 10.1086/344346
PMCID:
PMC420000
AbstractArticlePDF–461K
4.
Reciprocal Crossovers and a Positional Preference for Strand Exchange in Recombination Events Resulting in Deletion or Duplication of Chromosome 17p11.2
Weimin Bi, Sung-Sup Park, Christine J. Shaw, Marjorie A. Withers, Pragna I. Patel, James R. Lupski
Am J Hum Genet. 2003 Dec; 73(6): 1302–1315. Published online 2003 Nov 24. doi: 10.1086/379979
PMCID:
PMC1180396
AbstractArticlePDF–612K
5.
Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPs
Sung-Sup Park, Paweł Stankiewicz, Weimin Bi, Christine Shaw, Jessica Lehoczky, Ken Dewar, Bruce Birren, James R. Lupski
Genome Res. 2002 May; 12(5): 729–738. doi: 10.1101/gr.82802
PMCID:
PMC186597
AbstractArticlePDF–419K
6.
Recombination initiation maps of individual human genomes
Florencia Pratto, Kevin Brick, Pavel Khil, Fatima Smagulova, Galina V. Petukhova, R. Daniel Camerini-Otero
Science. Author manuscript; available in PMC 2017 Sep 7.
Published in final edited form as: Science. 2014 Nov 14; 346(6211): 1256442. doi: 10.1126/science.1256442
PMCID:
PMC5588152
AbstractArticlePDF–2.7M

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