Peter H Byers

Peter H Byers

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Peter H Byers

Peter H Byers

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Compound heterozygosity for a frameshift mutation and an upstream deletion that reduces expression of SERPINH1 in siblings with a moderate form of osteogenesis imperfecta.

Am J Med Genet A 2019 Aug 9;179(8):1466-1475. Epub 2019 Jun 9.

Department of Pathology, University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.61170DOI Listing
August 2019

Assessment of the information sources and interest in research collaboration among individuals with Vascular Ehlers-Danlos Syndrome.

Ann Vasc Surg 2019 Aug 23. Epub 2019 Aug 23.

Division of Medical Genetics, Department of Medicine and Department of Pathology and, University of Washington, Seattle, WA.

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http://dx.doi.org/10.1016/j.avsg.2019.06.010DOI Listing
August 2019

Trends over 42 years in the Adult Medical Genetics Clinic at the University of Washington.

Genet Med 2019 06 16;21(6):1457-1461. Epub 2018 Oct 16.

Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA.

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http://www.nature.com/articles/s41436-018-0329-5
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http://dx.doi.org/10.1038/s41436-018-0329-5DOI Listing
June 2019

Heterozygous WNT1 variant causing a variable bone phenotype.

Am J Med Genet A 2018 11 24;176(11):2419-2424. Epub 2018 Sep 24.

University of California, San Diego, La Jolla, California.

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http://dx.doi.org/10.1002/ajmg.a.40347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289778PMC
November 2018

Testing patterns for genetically triggered aortic and arterial aneurysms and dissections at an academic center.

J Vasc Surg 2018 09 3;68(3):701-711. Epub 2018 Mar 3.

Division of Vascular Surgery, Department of Surgery, University of Washington, Seattle, Wash. Electronic address:

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http://dx.doi.org/10.1016/j.jvs.2017.12.023DOI Listing
September 2018

Osteogenesis imperfecta.

Nat Rev Dis Primers 2017 Aug 18;3:17052. Epub 2017 Aug 18.

Children's Hospital, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1038/nrdp.2017.52DOI Listing
August 2017

6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy.

Am J Med Genet A 2017 Jul 2;173(7):1848-1857. Epub 2017 May 2.

Department of Pathology, University of Washington School of Medicine, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.38254DOI Listing
July 2017

Endovascular Repair of Internal Mammary Artery Aneurysms in 2 Sisters with SMAD3 Mutation.

Ann Vasc Surg 2017 May 8;41:283.e5-283.e9. Epub 2017 Mar 8.

Department of Surgery, Division of Vascular Surgery, University of Washington, Seattle, WA.

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http://dx.doi.org/10.1016/j.avsg.2016.10.048DOI Listing
May 2017

Current Practices and the Provider Perspectives on Inconclusive Genetic Test Results for Osteogenesis Imperfecta in Children with Unexplained Fractures: ELSI Implications.

J Law Med Ethics 2016 09;44(3):514-9

Emily Youngblom, M.P.H., is a Ph.D. candidate at the Institute of Public Health Genetics at the University of Washington. She completed her undergraduate degree at the University of California-Berkeley (Berkeley, CA) and her M.P.H. in Public Health Genetics at the University of Washington (Seattle, WA). Mitzi Leah Murray, M.D., M.A., is a clinical geneticist with a focus on evaluating and providing care for individuals and families with heritable connective tissue disorders. She is also the assistant director of the Collagen Diagnostic Laboratory at the University of Washington. Dr. Murray earned her undergraduate degree from Ohio University (Athens, OH), her medical degree from the University of Texas Southwestern Medical School (Dallas, TX), her Masters of Bioethics from the University of Washington (Seattle, WA), and is board certified in clinical genetics and in clinical molecular genetics. Peter H. Byers, M.D., is a clinical geneticist with the focus of understanding the molecular pathogenesis of inherited disorders of connective tissue. He is currently the director of both the Collagen Diagnostic Laboratory and the Center for Precision Diagnostics at the University of Washington. Dr. Byers earned his undergraduate degree from Reed College (Portland, OR), his medical degree from Case Western Reserve University (Cleveland, OH), and completed residency at the University of California-San Francisco (San Francisco, CA). He is board certified by both the American Board of Medical Genetics and the American Board of Internal Medicine.

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http://dx.doi.org/10.1177/1073110516667947DOI Listing
September 2016

COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse.

Am J Med Genet A 2016 07 19;170(7):1858-62. Epub 2016 Apr 19.

Departments of Pathology and Medicine (Medical Genetics), University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.37664DOI Listing
July 2016

The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories.

Genet Med 2016 Jan 2;18(1):20-4. Epub 2015 Apr 2.

Department of Pathology, University of Washington, Seattle, Washington, USA.

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http://www.nature.com/articles/gim201531
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http://dx.doi.org/10.1038/gim.2015.31DOI Listing
January 2016

What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases.

Am J Med Genet C Semin Med Genet 2015 Dec 14;169(4):307-13. Epub 2015 Nov 14.

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http://dx.doi.org/10.1002/ajmg.c.31459DOI Listing
December 2015

A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.

Am J Med Genet A 2015 Nov 18;167A(11):2691-6. Epub 2015 Jun 18.

Division of Genetic Medicine, Department of Pediatrics, University of Washington & Seattle Children's Hospital, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.37209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654953PMC
November 2015

Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1, Which Encodes the proα1(I) Chains of Type I Procollagen.

Hum Mutat 2015 Jul;36(7):728-39

Departments of Pathology and Medicine (Medical Genetics), University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/humu.22812DOI Listing
July 2015

Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.

Eur J Hum Genet 2015 Jun 10;23(6):796-802. Epub 2014 Sep 10.

1] Department of Pathology, Seattle, WA,USA [2] Department of Medicine (Medical Genetics), University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1038/ejhg.2014.181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795069PMC
June 2015

Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).

Genet Med 2014 Dec 12;16(12):881-8. Epub 2014 Jun 12.

1] Department of Pathology, University of Washington, Seattle, Washington, USA [2] Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/gim.2014.72DOI Listing
December 2014

Pregnancy-related deaths and complications in women with vascular Ehlers-Danlos syndrome.

Genet Med 2014 Dec 12;16(12):874-80. Epub 2014 Jun 12.

1] Department of Pathology, University of Washington, Seattle, Washington, USA [2] Department of Medicine (Medical Genetics), University of Washington, Seattle, Washington, USA.

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http://www.nature.com/articles/gim201453
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http://dx.doi.org/10.1038/gim.2014.53DOI Listing
December 2014

FKBP14-related Ehlers-Danlos syndrome: expansion of the phenotype to include vascular complications.

Am J Med Genet A 2014 Jul 26;164A(7):1750-5. Epub 2014 Mar 26.

Department of Pathology, University of Washington, Seattle, Washington; Department of Medicine (Medical Genetics), University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.36492DOI Listing
July 2014

Pre- and postnatal transplantation of fetal mesenchymal stem cells in osteogenesis imperfecta: a two-center experience.

Stem Cells Transl Med 2014 Feb 16;3(2):255-64. Epub 2013 Dec 16.

Division of Obstetrics and Gynecology, Center for Hematology and Regenerative Medicine, Department of Women's and Children's Health and Neuro-pediatric Unit, and Hematology Center, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden; Department of Obstetrics and Gynecology and Division of Medical Genetics, Department of Pediatrics, Chang Gung Memorial Hospital at Linkou and Chang Gung University College of Medicine, Taoyuan, Taiwan; Experimental Fetal Medicine Group, Department of Obstetrics and Gynecology, and Department of Pediatrics, Yong Loo Lin School of Medicine and National University of Singapore, Singapore; Departments of Pathology and Medicine (Medical Genetics), University of Washington, Seattle, Washington, USA; Department of Genetics, Children's Hospital of Eastern Ontario and Department of Pediatrics, University of Ottawa, Ottawa, Canada; Orthopedic Unit, Uppsala University Hospital, Uppsala, Sweden; Women's and Children's Health, Uppsala University, Uppsala, Sweden; Centre for Clinical Research, University of Queensland, Brisbane, Australia; Department of Reproductive Medicine, Women's and Children's Hospital, Singapore; Cancer and Stem Cell Biology, Duke-National University of Singapore Graduate Medical School, Singapore.

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http://dx.doi.org/10.5966/sctm.2013-0090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925052PMC
February 2014

Ehlers-Danlos syndrome: a showcase of conditions that lead to understanding matrix biology.

Matrix Biol 2014 Jan 3;33:10-5. Epub 2013 Aug 3.

Department of Pathology, University of Washington, Seattle, WA 98195-7470, United States; Department of Medicine (Medical Genetics), University of Washington, Seattle, WA 98195-7470, United States. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0945053X130009
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http://dx.doi.org/10.1016/j.matbio.2013.07.005DOI Listing
January 2014

Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations.

Mol Genet Genomic Med 2013 Nov 26;1(4):194-205. Epub 2013 Jun 26.

Department of Pathology, University of Washington Seattle, Washington ; Department of Medicine (Medical Genetics), University of Washington Seattle, Washington.

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http://doi.wiley.com/10.1002/mgg3.21
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http://dx.doi.org/10.1002/mgg3.21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865588PMC
November 2013

Recessively inherited forms of osteogenesis imperfecta.

Annu Rev Genet 2012 ;46:475-97

Department of Pathology, University of Washington, Seattle, Washington 98195, USA.

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http://www.annualreviews.org/doi/10.1146/annurev-genet-11071
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http://dx.doi.org/10.1146/annurev-genet-110711-155608DOI Listing
April 2013

Heritable Collagen Disorders: The Paradigm of the Ehlers-Danlos Syndrome.

J Invest Dermatol 2012 Nov;132 Suppl 3:E6-E11

Department of Pathology, University of Washington, Seattle, Washington, USA; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X156105
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http://dx.doi.org/10.1038/skinbio.2012.3DOI Listing
November 2012

Heritable collagen disorders: the paradigm of the Ehlers-Danlos syndrome.

J Invest Dermatol 2012 Nov 15;132(E1):E6-11. Epub 2012 Nov 15.

Department of Pathology, University of Washington, Seattle, Washington, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X156105
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http://dx.doi.org/10.1038/skinbio.2012.3DOI Listing
November 2012

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

Eur J Hum Genet 2012 Jan 10;20(1):11-9. Epub 2011 Aug 10.

Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2011.141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234509PMC
January 2012

Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).

Hum Mutat 2009 Jun;30(6):995-1002

Department of Pediatrics, Division of Genetics, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1002/humu.21000DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3827857PMC
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

Natural variation in four human collagen genes across an ethnically diverse population.

Genomics 2008 Apr 12;91(4):307-14. Epub 2008 Feb 12.

Cardiovascular Research Institute and Institute for Human Genetics, University of California at San Francisco, San Francisco, CA 94143, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S088875430700311
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http://dx.doi.org/10.1016/j.ygeno.2007.12.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2737816PMC
April 2008

Usefulness of bicuspid aortic valve phenotype to predict elastic properties of the ascending aorta.

Am J Cardiol 2007 Mar 5;99(5):686-90. Epub 2007 Jan 5.

Division of Cardiology, Department of Medicine, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1016/j.amjcard.2006.09.118DOI Listing
March 2007

2005 ASHG Presidential Address. If only we spoke the same language--we would have so much to discuss.

Authors:
Peter H Byers

Am J Hum Genet 2006 Mar;78(3):368-72

Department of Pathology, University of Washington, Seattle, 98195-7470, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1380279PMC
http://dx.doi.org/10.1086/500249DOI Listing
March 2006

2005 ASHG Award for Excellence in Human Genetics Education. Introductory speech of Joseph D. McInerney.

Authors:
Peter H Byers

Am J Hum Genet 2006 Mar;78(3):373

Department of Pathology, University of Washington, Seattle, 98195-7470, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1380280PMC
http://dx.doi.org/10.1086/500329DOI Listing
March 2006

Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders.

Hum Mutat 2004 Oct;24(4):330-7

Department of Biochemistry, Robert Wood Johnson Medical School, University of Medicine and Dentistry of New Jersey, Piscataway, New Jersey 08854, USA.

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http://dx.doi.org/10.1002/humu.20091DOI Listing
October 2004

Determination of the molecular basis of Marfan syndrome: a growth industry.

Authors:
Peter H Byers

J Clin Invest 2004 Jul;114(2):161-3

Department of Pathology, University of Washington, Seattle, Washington 98195-7470, USA.

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http://dx.doi.org/10.1172/JCI22399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC449756PMC
July 2004

Gene targeting in stem cells from individuals with osteogenesis imperfecta.

Science 2004 Feb;303(5661):1198-201

Department of Medicine, University of Washington, Seattle, WA 98195-7720, USA.

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http://dx.doi.org/10.1126/science.1088757DOI Listing
February 2004

Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1.

Matrix Biol 2003 Mar;22(1):3-14

Department of Pathology, University of Washington, Box 357470, Seattle 98195, USA.

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March 2003

Killing the messenger: new insights into nonsense-mediated mRNA decay.

Authors:
Peter H Byers

J Clin Invest 2002 Jan;109(1):3-6

Department of Pathology, University of Washington, Seattle, Washington 98195-7470, USA.

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http://dx.doi.org/10.1172/JCI14841DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC150830PMC
January 2002

A report on the 3rd Workshop on Heritable Disorders of Connective Tissue.

Matrix Biol 2002 Jan;21(1):7-13

Department of Biochemistry and Molecular Biology, Shriners Hospital for Children, Oregon Health Sciences University, 3101 SW Sam Jackson Park Road, Portland, OR 97201, USA.

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January 2002