Dale L Bodian

Dale L Bodian

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Dale L Bodian

Dale L Bodian

Publications by authors named "Dale L Bodian"

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Pitfalls of clinical exome and gene panel testing: alternative transcripts.

Genet Med 2019 05 8;21(5):1240-1245. Epub 2018 Oct 8.

Inova Translational Medicine Institute, Inova Health System, Falls Church, VA, USA.

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http://www.nature.com/articles/s41436-018-0319-7
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http://dx.doi.org/10.1038/s41436-018-0319-7DOI Listing
May 2019

Mendelian Inconsistent Signatures from 1314 Ancestrally Diverse Family Trios Distinguish Biological Variation from Sequencing Error.

J Comput Biol 2019 May 3;26(5):405-419. Epub 2019 Apr 3.

1 Inova Translational Medicine Institute, Inova Health System, Falls Church, Virginia.

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http://dx.doi.org/10.1089/cmb.2018.0253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6533806PMC
May 2019

Mutation in an alternative transcript of in a boy with early-onset seizures.

Cold Spring Harb Mol Case Stud 2018 06 1;4(3). Epub 2018 Jun 1.

Inova Translational Medicine Institute, Inova Health System, Falls Church, Virginia 22042, USA.

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http://dx.doi.org/10.1101/mcs.a002360DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983171PMC
June 2018

Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy.

Cold Spring Harb Mol Case Stud 2017 Nov 21;3(6). Epub 2017 Nov 21.

Inova Translational Medicine Institute, Inova Health System, Falls Church, Virginia 22042, USA.

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http://dx.doi.org/10.1101/mcs.a002055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701300PMC
November 2017

Tools for annotation and comparison of structural variation.

F1000Res 2017 3;6:1795. Epub 2017 Oct 3.

Genome-scale Measurements Group, National Institute of Standards and Technology, Gaithersburg, MD, USA.

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http://dx.doi.org/10.12688/f1000research.12516.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5668921PMC
October 2017

Whole-Genome Sequencing of a Healthy Aging Cohort.

Cell 2016 May 21;165(4):1002-11. Epub 2016 Apr 21.

The Scripps Translational Science Institute, Scripps Health, and The Scripps Research Institute, La Jolla, CA 92037, USA; Cypher Genomics, Inc., San Diego, CA 92121, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2016.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4860090PMC
May 2016

New observations on maternal age effect on germline de novo mutations.

Nat Commun 2016 Jan 19;7:10486. Epub 2016 Jan 19.

Inova Translational Medicine Institute, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA.

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http://dx.doi.org/10.1038/ncomms10486DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4735694PMC
January 2016

Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.

Am J Med Genet A 2015 May 25;167A(5):1111-6. Epub 2015 Feb 25.

Inova Translational Medicine Institute, Inova Health System, Falls Church, Virginia; Department of Pediatrics, Inova Health System, Falls Church, Virginia; Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, Virginia.

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http://dx.doi.org/10.1002/ajmg.a.36883DOI Listing
May 2015

Mutations in NOTCH1 cause Adams-Oliver syndrome.

Am J Hum Genet 2014 Sep 14;95(3):275-84. Epub 2014 Aug 14.

Department of Medical Genetics and Child and Family Research Institute, University of British Columbia, Vancouver, BC V6H 3N1, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.07.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157158PMC
September 2014

Cell type-specific gene expression differences in complex tissues.

Nat Methods 2010 Apr 7;7(4):287-9. Epub 2010 Mar 7.

Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.

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http://www.nature.com/articles/nmeth.1439
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http://dx.doi.org/10.1038/nmeth.1439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3699332PMC
April 2010

COLdb, a database linking genetic data to molecular function in fibrillar collagens.

Hum Mutat 2009 Jun;30(6):946-51

Genetics Department, School of Medicine, Stanford University, Stanford, CA 94305-5120, USA.

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http://doi.wiley.com/10.1002/humu.20978
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http://dx.doi.org/10.1002/humu.20978DOI Listing
June 2009

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.

Hum Mol Genet 2009 Feb 7;18(3):463-71. Epub 2008 Nov 7.

Genetics Department, School of Medicine, Stanford University, Stanford, CA 94305-5120, USA.

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http://dx.doi.org/10.1093/hmg/ddn374DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2638801PMC
February 2009

Predicting the clinical lethality of osteogenesis imperfecta from collagen glycine mutations.

Biochemistry 2008 May 16;47(19):5424-32. Epub 2008 Apr 16.

Genetics Department, School of Medicine, Stanford University, Stanford, California 94305, USA.

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http://dx.doi.org/10.1021/bi800026kDOI Listing
May 2008

Rapid expression cloning of receptors using epitope-tagged ligands and high-speed cell sorting.

Cytometry A 2003 Feb;51(2):59-67

Novartis Institute for Biomedical Research, Functional Genomics, Novartis Pharmaceuticals Corporation, East Hanover, New Jersey 07936, USA.

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http://dx.doi.org/10.1002/cyto.a.10012DOI Listing
February 2003