Publications by authors named "Lora J H Bean"

36Publications

Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.

Genome Med 2017 12 18;9(1):111. Epub 2017 Dec 18.

Department of Human Genetics, Emory University, Atlanta, GA, USA.

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http://dx.doi.org/10.1186/s13073-017-0508-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733812PMC
December 2017

Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.

Am J Hum Genet 2016 Nov 27;99(5):1140-1149. Epub 2016 Oct 27.

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA; Emory Genetics Laboratory, Decatur, GA 30033, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.09.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097932PMC
November 2016

Regulating whole exome sequencing as a diagnostic test.

Hum Genet 2016 06 11;135(6):655-73. Epub 2016 May 11.

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.

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http://dx.doi.org/10.1007/s00439-016-1677-3DOI Listing
June 2016

Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine.

Hum Mutat 2016 06 18;37(6):559-63. Epub 2016 Mar 18.

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.

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http://dx.doi.org/10.1002/humu.22982DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4846518PMC
June 2016

A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3.

Am J Med Genet A 2015 May 8;167A(5):1117-20. Epub 2015 Mar 8.

Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.

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http://dx.doi.org/10.1002/ajmg.a.36970DOI Listing
May 2015

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.

Ann Neurol 2015 Feb 17;77(2):206-14. Epub 2014 Dec 17.

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA.

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http://dx.doi.org/10.1002/ana.24303DOI Listing
February 2015

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.

Hum Mutat 2013 Sep 5;34(9):1183-8. Epub 2013 Aug 5.

Department of Human Genetics, Emory University, Atlanta, Georgia 30322, USA.

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http://dx.doi.org/10.1002/humu.22364DOI Listing
September 2013

Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21.

Hum Genet 2012 Jul 9;131(7):1039-46. Epub 2011 Dec 9.

Department of Human Genetics, Emory University School of Medicine, 615 Michael St, Suite 301, Whitehead Bldg, Atlanta, GA 30322, USA.

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http://dx.doi.org/10.1007/s00439-011-1121-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925977PMC
July 2012

Allelic dropout can cause false-positive results for Prader-Willi and Angelman syndrome testing.

J Mol Diagn 2011 Jan 23;13(1):108-12. Epub 2010 Dec 23.

Emory Genetics Laboratory, Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

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http://dx.doi.org/10.1016/j.jmoldx.2010.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3069869PMC
January 2011

A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis.

J Mol Diagn 2010 Sep 15;12(5):607-10. Epub 2010 Jul 15.

Department of Human Genetics, Emory University, Atlanta, Georgia 30322, USA.

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http://dx.doi.org/10.2353/jmoldx.2010.100011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2928424PMC
September 2010

Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications.

Genet Med 2009 Apr;11(4):232-40

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.

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http://dx.doi.org/10.1097/GIM.0b013e318195e191DOI Listing
April 2009

Smarter clustering methods for SNP genotype calling.

Bioinformatics 2008 Dec 29;24(23):2665-71. Epub 2008 Sep 29.

Department of Biostatistics, Department of Medicine, Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1093/bioinformatics/btn509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2732271PMC
December 2008

Mowat-Wilson syndrome with craniosynostosis: a case report.

Am J Med Genet A 2008 Jan;146A(2):245-6

Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

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http://dx.doi.org/10.1002/ajmg.a.32075DOI Listing
January 2008

CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome.

Am J Med Genet A 2006 Nov;140(22):2501-5

Department of Medicine, Division of Endocrinology, Oregon Health & Science University, Portland 97239, USA.

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http://dx.doi.org/10.1002/ajmg.a.31494DOI Listing
November 2006

Regulation of the accumulation and function of p53 by phosphorylation of two residues within the domain that binds to Mdm2.

J Biol Chem 2002 Jan 13;277(3):1864-71. Epub 2001 Nov 13.

Department of Molecular Biology, Lerner Research Institute, The Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA.

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http://dx.doi.org/10.1074/jbc.M108881200DOI Listing
January 2002