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List of works by Peter H. Byers

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

scientific article

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

scientific article published in March 2006

A Gly238Ser substitution in the ?2 chain of type I collagen results in osteogenesis imperfecta type III

scientific article published on 01 February 1995

A Gly859Ser substitution in the triple helical domain of the α2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals

article

A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers.

scientific article published on 30 May 2014

A dimorphic Alu Sb-like insertion in COL3A1 is ethnic-specific

scientific article published on 01 February 1996

A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrils ⬇️

scientific article published on January 19, 1978

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

scientific article published in January 2002

A single amino acid deletion in the ?2(I) chain of type I collagen produces osteogenesis imperfecta type III

scientific article published on 01 February 1993

A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.

scientific article published in July 1996

Actionable, pathogenic incidental findings in 1,000 participants' exomes

scientific article published on 19 September 2013

An Exception to the Rule ⬇️

scientific article published on October 18, 2001

Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.

scientific article published on 18 June 2009

Aneurysm syndromes caused by mutations in the TGF-beta receptor

scientific article

Bovine model of Marfan syndrome results from an amino acid change (c.3598G > A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1.

scientific article

COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy

scientific article published on 01 August 2011

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

scientific article

CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta

scientific journal article

Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta

scientific article published on October 2015

Characterization of tissue-specific and developmentally regulated alternative splicing of exon 64 in the COL5A1 gene

scientific article (publication date: 2012)

Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome ⬇️

scientific article published on March 12, 1979

Collagens: building blocks at the end of the development line.

scientific article

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

scientific article published on 09 June 2019

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

scientific article

Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome

scientific article

Cysteine in the triple helical domain of the pro?2(I) chain of type-I collagen in nonlethal forms of osteogenesis imperfecta

scientific article published on 01 June 1991

Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta

scientific article

Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta

scientific article published on 01 October 2001

Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome

scientific article

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

scientific article

Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen

scientific article published on 01 September 1986

Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in theCOL1A1 andCOL1A2 genes of type I collagen

article

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

scientific article published on 03 August 2013

Evidence for spread of a clonal strain of Pseudomonas aeruginosa among cystic fibrosis clinics

scientific article published on May 2003

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

scientific article published on 26 March 2014

Folding defects in fibrillar collagens

scientific article

Frontiers in rehabilitation medicine: osteogenesis imperfecta, overview of a conference

scientific article published in January 1995

Gene expression characteristics of a cystic fibrosis epidemic strain of Pseudomonas aeruginosa during biofilm and planktonic growth

scientific article

Gene targeting in stem cells from individuals with osteogenesis imperfecta

scientific article

Gene targeting of mutant COL1A2 alleles in mesenchymal stem cells from individuals with osteogenesis imperfecta

scientific article

Generalized connective tissue disease in Crtap-/- mouse

scientific article

Genetic evaluation of suspected osteogenesis imperfecta (OI).

scientific article

Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

scientific article

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

scientific article

Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study

scientific article published on 26 December 2019

High prevalence of a class 1 integron-associated aadB gene cassette in Pseudomonas aeruginosa isolates from an Australian cystic fibrosis patient population

scientific article published in August 2008

Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta

scientific article

Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene

scientific article

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

scientific article (publication date: March 2003)

Initial observations of human dermatosparaxis: Ehlers-Danlos syndrome type VIIC.

scientific article published in October 1992

Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta

scientific article published on May 1985

Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in theCOL3A1 gene of type III procollagen: Low risk of pregnancy complications and unexpected longevity in some affected relatives

article

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

scientific article published on 8 July 2012

Low rates of Pseudomonas aeruginosa misidentification in isolates from cystic fibrosis patients

scientific article

MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV.

scientific article published on 28 November 2007

Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV.

scientific article published in May 1989

Molecular heterogeneity in osteogenesis imperfecta type I.

scientific article published in January 1993

Molecular pathology in inherited disorders of collagen metabolism.

scientific article published on February 1982

Multi-centre research in Australia: analysis of a recent National Health and Medical Research Council-funded project.

scientific article published in September 2009

Multiple Vascular and Bowel Ruptures in an Adolescent Male with Sporadic Ehlers-Danlos Syndrome Type IV

scientific article published on 01 January 1999

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

scientific article

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

scientific article published on 19 March 2009

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

scientific article published on 4 September 2012

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.

scientific article

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta.

scientific article

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta

scientific article

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

scientific article published on 12 February 2008

Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism

scientific article

Night-to-night variability in sleep in cystic fibrosis

scientific article published in May 2002

Non-invasive ventilation versus oxygen therapy in cystic fibrosis: A 12-month randomized trial

scientific article published on 17 June 2019

Non-invasive ventilation versus oxygen therapy in cystic fibrosis: Long-term effects - Reply

scientific article published on 11 October 2019

Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal ⬇️

scientific article published on February 1, 2004

Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I

scientific article

Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen

article

Osteogenesis imperfecta type IV: evidence of abnormal triple helical structure of type I collagen

scientific article published in September 1986

Osteogenesis imperfecta: mode of delivery and neonatal outcome

article

Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII

article

Pedigrees-publish? or perish the thought?

scientific article

Phenotypic characterization of clonal and nonclonal Pseudomonas aeruginosa strains isolated from lungs of adults with cystic fibrosis

scientific article published on 28 March 2007

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

scientific article published on 16 December 2013

Prenatal diagnosis of lethal perinatal osteogenesis imperfecta (OI Type II)

article

Protease IV production in Pseudomonas aeruginosa from the lungs of adults with cystic fibrosis

scientific article published in December 2006

Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

scientific article

Recessively inherited forms of osteogenesis imperfecta

scientific article

Recommendations of the 2006 Human Variome Project meeting

scientific article published in April 2007

Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance

scientific article published on 01 February 2011

Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation

scientific article

Refining the structure and content of clinical genomic reports

scientific article

Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability

scientific article published on 01 January 1999

Sequence and characterization of the complete human thrombospondin 2 cDNA: potential regulatory role for the 3' untranslated region

scientific article

Sequential use of oxygen and bi-level ventilation for respiratory failure in cystic fibrosis

scientific article published in December 2004

Shared Pseudomonas aeruginosa genotypes are common in Australian cystic fibrosis centres

scientific article published on 9 August 2012

Sleep disordered breathing in cystic fibrosis.

scientific article published in August 2004

Splicing Defects in the COL3A1 Gene: Marked Preference for 5′ (Donor) Splice-Site Mutations in Patients with Exon-Skipping Mutations and Ehlers-Danlos Syndrome Type IV ⬇️

scientific article published on December 1, 1997

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

scientific article

Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta

article

Subjective sleep quality in cystic fibrosis

scientific article published in May 2002

Successful endovascular repair of acute type B aortic dissection in undiagnosed Ehlers-Danlos syndrome type IV.

scientific article published on 19 August 2009

The bicuspid aortic valve: an integrated phenotypic classification of leaflet morphology and aortic root shape.

scientific article published on 28 February 2008

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

scientific article

The role of genomics in medicine--past, present and future

scientific article published on February 2006

Thrombospondin II: partial cDNA sequence, chromosome location, and expression of a second member of the thrombospondin gene family in humans

scientific article

Transcriptome analyses and biofilm-forming characteristics of a clonal Pseudomonas aeruginosa from the cystic fibrosis lung

scientific article published on 01 December 2008

Type XXVII collagen at the transition of cartilage to bone during skeletogenesis

scientific article

Usefulness of Bicuspid Aortic Valve Phenotype to Predict Elastic Properties of the Ascending Aorta

WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta

scientific article

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