Publications by authors named "Lora Bean"

49Publications

Reply: Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy.

Ann Clin Transl Neurol 2020 Oct 15. Epub 2020 Oct 15.

PerkinElmer Genomics, Waltham, Massachusetts, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/acn3.51192DOI Listing
October 2020

Addendum: American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease.

Genet Med 2020 Jul 20. Epub 2020 Jul 20.

Department of Pathology, University of Utah School of Medicine and ARUP Laboratories, Salt Lake City, UT, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-020-0893-3DOI Listing
July 2020

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.

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing.

Clin Chem 2016 06 9;62(6):799-806. Epub 2016 Feb 9.

Director, Molecular Genetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Mercy, Kansas City, MO.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1373/clinchem.2015.247874DOI Listing
June 2016

Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia.

Clin Chim Acta 2015 Jun 25;446:171-4. Epub 2015 Apr 25.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cca.2015.04.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449829PMC
June 2015

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease.

Genet Med 2014 Dec 30;16(12):e2. Epub 2014 Oct 30.

Department of Pathology, University of Utah School of Medicine and ARUP Laboratories, Salt Lake City, Utah, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2014.146DOI Listing
December 2014

Detection limit of intragenic deletions with targeted array comparative genomic hybridization.

BMC Genet 2013 Dec 5;14:116. Epub 2013 Dec 5.

Emory Genetics Laboratory, Department of Human Genetics, Emory University, 2165 N Decatur Road, Decatur, GA 30033, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2156-14-116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4235222PMC
December 2013

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.

View Article

Download full-text PDF

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

ACMG position statement on prenatal/preconception expanded carrier screening.

Genet Med 2013 Jun 25;15(6):482-3. Epub 2013 Apr 25.

Division of Medical Genetics, UCLA School of Medicine, Los Angeles, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2013.47DOI Listing
June 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.

View Article

Download full-text PDF

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

The virtual diagnostic laboratory: a new way of teaching undergraduate medical students about genetic testing.

Genet Med 2011 Nov;13(11):973-7

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30306, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/GIM.0b013e318225ac13DOI Listing
November 2011

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Epidemiology of Down syndrome.

Ment Retard Dev Disabil Res Rev 2007 ;13(3):221-7

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mrdd.20157DOI Listing
April 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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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