Lista de obras - Gareth Baynam - Dominio Público Uruguay

'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases

artículo científico publicado en 2016

45,X/46,XY mosaicism and Oculo-Auriculo-Vertebral Spectrum following an IVF pregnancy: a report and a discussion of their interrelationships

artículo científico publicado en 2009

A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing.

artículo científico publicado en 2018

A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia

A call for global action for rare diseases in Africa

artículo científico publicado en 2020

A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions

artículo científico publicado en 2006

A child with an STK11 mutation and Sotos syndrome-like features: can STK11 mutations produce a Sotos syndrome phenocopy?

artículo científico publicado en 2011

A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.

artículo científico publicado en 2015

A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: the Upsilon sign.

artículo científico publicado en 2010

A review of structural brain abnormalities in Pallister-Killian syndrome

artículo científico publicado en 2017

AB002. The rare and undiagnosed diseases diagnostic service.

artículo científico publicado en 2015

Automatic concept recognition using the human phenotype ontology reference and test suite corpora

artículo científico publicado en 2015

CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant

artículo científico publicado en 2010

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay

artículo científico publicado en 2011

Cerebral palsy and genomics: an international consortium

artículo científico publicado en 2018

Changes to the Employers' Use of Genetic Information and Non-discrimination for Health Insurance in the USA: Implications for Australians.

artículo científico publicado en 2018

Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment

artículo científico publicado en 2024

Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.

artículo científico publicado en 2012

Cornelia de Lange syndrome.

artículo científico publicado en 2010

Correction: Dispelling myths about rare disease registry system development

artículo científico publicado en 2014

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

artículo científico publicado en 2019

Dispelling myths about rare disease registry system development

artículo científico publicado en 2013

Editorial: Precision Public Health.

artículo científico publicado en 2018

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

article by Sebastian Köhler et al published 8 January 2019 in Nucleic Acids Research

Extending the phenotypes associated with DICER1 mutations.

artículo científico publicado en 2011

Fetal akinesia: review of the genetics of the neuromuscular causes

artículo científico publicado en 2011

Follicular thyroid carcinoma in a child presenting as autonomously functioning thyroid nodule.

artículo científico publicado en 2015

Future of Rare Diseases Research 2017-2027: an IRDiRC Perspective

artículo científico publicado en 2017

Gender-specific effects of cytokine gene polymorphisms on childhood vaccine responses

article

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework

artículo científico publicado en 2017

Incidental inequity

artículo científico publicado en 2018

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

artículo científico

Multinodular Goiter in children: an important pointer to a germline DICER1 mutation

artículo científico publicado en 2014

Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer

article

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections

artículo científico publicado en 2015

New Opportunities for Evidence in Fetal Alcohol Spectrum Disorder

artículo científico publicado en 2017

Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments

scientific article published on 24 February 2017

Parental smoking impairs vaccine responses in children with atopic genotypes

artículo científico publicado en 2007

Personalised analytics for rare disease diagnostics

artículo científico publicado en 2019

Phenotyping: targeting genotype's rich cousin for diagnosis

artículo científico publicado en 2014

Plain-language medical vocabulary for precision diagnosis.

artículo científico publicado en 2018

Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective

artículo científico publicado en 2017

Rare Disease Research Roadmap: Navigating the bioinformatics and translational challenges for improved patient health outcomes

article

Rights, interests and expectations: Indigenous perspectives on unrestricted access to genomic data

scientific article published on 06 April 2020

Sexual dimorphism in multiple aspects of 3D facial symmetry and asymmetry defined by spatially dense geometric morphometrics

artículo científico publicado en 2012

The Human Phenotype Ontology in 2017

artículo científico publicado en 2016

The Human Phenotype Ontology in 2021

artículo científico publicado en 2020

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

artículo científico publicado en 2015

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V

artículo científico publicado en 2014

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.

artículo científico publicado en 2017

The facial evolution: looking backward and moving forward

artículo científico publicado en 2012

The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service

artículo científico publicado en 2016

Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs

artículo científico publicado en 2015

Lista de obras de Gareth Baynam

'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases

45,X/46,XY mosaicism and Oculo-Auriculo-Vertebral Spectrum following an IVF pregnancy: a report and a discussion of their interrelationships

A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing.

A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia

A call for global action for rare diseases in Africa

A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions

A child with an STK11 mutation and Sotos syndrome-like features: can STK11 mutations produce a Sotos syndrome phenocopy?

A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.

A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: the Upsilon sign.

A review of structural brain abnormalities in Pallister-Killian syndrome

AB002. The rare and undiagnosed diseases diagnostic service.

Automatic concept recognition using the human phenotype ontology reference and test suite corpora

CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay

Cerebral palsy and genomics: an international consortium

Changes to the Employers' Use of Genetic Information and Non-discrimination for Health Insurance in the USA: Implications for Australians.

Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment

Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.

Cornelia de Lange syndrome.

Correction: Dispelling myths about rare disease registry system development

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

Dispelling myths about rare disease registry system development

Editorial: Precision Public Health.

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Extending the phenotypes associated with DICER1 mutations.

Fetal akinesia: review of the genetics of the neuromuscular causes

Follicular thyroid carcinoma in a child presenting as autonomously functioning thyroid nodule.

Future of Rare Diseases Research 2017-2027: an IRDiRC Perspective

Gender-specific effects of cytokine gene polymorphisms on childhood vaccine responses

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework

Incidental inequity

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Multinodular Goiter in children: an important pointer to a germline DICER1 mutation

Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections

New Opportunities for Evidence in Fetal Alcohol Spectrum Disorder

Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments

Parental smoking impairs vaccine responses in children with atopic genotypes

Personalised analytics for rare disease diagnostics

Phenotyping: targeting genotype's rich cousin for diagnosis

Plain-language medical vocabulary for precision diagnosis.

Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective

Rare Disease Research Roadmap: Navigating the bioinformatics and translational challenges for improved patient health outcomes

Rights, interests and expectations: Indigenous perspectives on unrestricted access to genomic data

Sexual dimorphism in multiple aspects of 3D facial symmetry and asymmetry defined by spatially dense geometric morphometrics

The Human Phenotype Ontology in 2017

The Human Phenotype Ontology in 2021

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.

The facial evolution: looking backward and moving forward

The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service

Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs