L
Lisa G. Shaffer
Researcher at Baylor College of Medicine
Publications - 141
Citations - 7985
Lisa G. Shaffer is an academic researcher from Baylor College of Medicine. The author has contributed to research in topics: Chromosomal translocation & Fluorescence in situ hybridization. The author has an hindex of 51, co-authored 141 publications receiving 7700 citations. Previous affiliations of Lisa G. Shaffer include Washington State University Spokane & VCU Medical Center.
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Journal ArticleDOI
Molecular Mechanisms for Constitutional Chromosomal Rearrangements in Humans
Lisa G. Shaffer,James R. Lupski +1 more
TL;DR: The identification of genome architectural features conferring susceptibility to rearrangements has been accomplished using methods that enable investigation of regions of the genome that are too small to be visualized by traditional cytogenetics and too large to be resolved by conventional gel electrophoresis.
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Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.
Lorraine Potocki,Ken-Shiung Chen,Sung Sup Park,Doreen E. Osterholm,Marjorie Withers,Virginia Kimonis,Anne Summers,Wendy S. Meschino,Kwame Anyane-Yeboa,Catherine D. Kashork,Lisa G. Shaffer,James R. Lupski +11 more
TL;DR: Molecular analyses suggest that the de novo17p11.2 duplication is preferentially paternal in origin, arises from unequal crossing over due to homologous recombination between flanking repeat gene clusters and probably represents the reciprocal recombination product of the SMS deletion.
Journal ArticleDOI
Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.
Stuart K. Shapira,Christopher McCaskill,Hope Northrup,Aimee S. Spikes,Frederick F.B. Elder,V. Reid Sutton,Julie R. Korenberg,Frank Greenberg,Lisa G. Shaffer +8 more
TL;DR: Clinical examinations revealed that the most common features and medical problems in patients with this deletion syndrome include large anterior fontanelle, motor delay/hypotonia, moderate to severe mental retardation, growth delay, pointed chin, and deep-set eyes.
Journal ArticleDOI
Human Chromosome 7: DNA Sequence and Biology
Stephen W. Scherer,Joseph Y. Cheung,Jeffrey R. MacDonald,Lucy R. Osborne,Kazuhiko Nakabayashi,Jo Anne Herbrick,Andrew R. Carson,Layla Parker-Katiraee,Jennifer Skaug,Razi Khaja,Junjun Zhang,Alexander K. Hudek,Martin Li,May Haddad,Gavin E. Duggan,Bridget A. Fernandez,Emiko Kanematsu,Simone Gentles,Constantine C. Christopoulos,Sanaa Choufani,Dorota Kwasnicka,Xiangqun H. Zheng,Zhongwu Lai,Deborah R. Nusskern,Qing Zhang,Zhiping Gu,Fu Lu,Susan Zeesman,Małgorzata J.M. Nowaczyk,Ikuko Teshima,David Chitayat,Cheryl Shuman,Rosanna Weksberg,Elaine H. Zackai,Theresa A. Grebe,Sarah R. Cox,Susan J. Kirkpatrick,Nazneen Rahman,Jan M. Friedman,Henry H.Q. Heng,Pier Giuseppe Pelicci,Francesco Lo-Coco,Elena Belloni,Lisa G. Shaffer,Barbara R. Pober,Cynthia C. Morton,James F. Gusella,Gail A. P. Bruns,Bruce R. Korf,Bradley J. Quade,Azra H. Ligon,Heather L. Ferguson,Anne W. Higgins,Natalia T. Leach,Steven R. Herrick,Emmanuelle Lemyre,Chantal Farra,Hyung Goo Kim,Anne M. Summers,Karen W. Gripp,Wendy Roberts,Peter Szatmari,Elizabeth J.T. Winsor,Karl Heinz Grzeschik,Ahmed Teebi,Berge A. Minassian,Juha Kere,Luis Armengol,Miguel Angel Pujana,Xavier Estivill,Michael D. Wilson,Ben F. Koop,Silvano Tosi,Gudrun E. Moore,Andrew P. Boright,Eitan Zlotorynski,Batsheva Kerem,Peter M. Kroisel,Erwin Petek,David G. Oscier,Sarah J. Mould,Hartmut Döhner,Konstanze Döhner,Johanna M. Rommens,John B. Vincent,J. Craig Venter,Peter W. Li,Richard J. Mural,Mark Raymond Adams,Lap-Chee Tsui,Lap-Chee Tsui +90 more
TL;DR: Additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease.
Journal ArticleDOI
Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.
Lorraine Potocki,Daniel G. Glaze,Dun Xian Tan,Sung Sup Park,Catherine D. Kashork,Lisa G. Shaffer,Russel J. Reiter,James R. Lupski +7 more
TL;DR: The findings suggest that the abnormalities in the circadian rhythm of melatonin and altered sleep patterns could be secondary to aberrations in the production, secretion, distribution, or metabolism ofmelatonin; however, a direct role for COPS3 could not be established.