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The Undiagnosed Diseases Network International: Five years and more

Molecular genetics and metabolism, 2020-04, Vol.129 (4), p.243-254

2020

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Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome

American journal of neuroradiology : AJNR, 2022-11, Vol.43 (11), p.1660-1666

2022

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CLINIFACE: PHENOTYPIC VISUALISATION AND ANALYSIS USING NON-RIGID REGISTRATION OF 3D FACIAL IMAGES

International archives of the photogrammetry, remote sensing and spatial information sciences., 2020, Vol.XLIII-B2-2020, p.301-308

2020

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Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea

Gene, 2019-05, Vol.699, p.110-114

2019

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

Database : the journal of biological databases and curation, 2015, Vol.2015, p.bav005-bav005

2015

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Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome

European journal of medical genetics, 2017-07, Vol.60 (7), p.359-364

2017

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

Journal of medical genetics, 2011-01, Vol.48 (1), p.32-37

2011

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Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene

Clinical genetics, 2011-12, Vol.80 (6), p.510-522

2011

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3D facial analysis can investigate vaccine responses

Medical hypotheses, 2012-04, Vol.78 (4), p.497-501

2012

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New Opportunities for Evidence in Fetal Alcohol Spectrum Disorder

JAMA pediatrics, 2017-08, Vol.171 (8), p.731

2017

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Association of CD14 Promoter Polymorphism with Otitis Media and Pneumococcal Vaccine Responses

Clinical and Vaccine Immunology, 2006-08, Vol.13 (8), p.892-897

2006

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Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy

Journal of Child Neurology, 2019-07, Vol.34 (8), p.472-476

2019

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P3.32 The molecular genetics of monogenic neuromuscular disorders characterised by reduced foetal movement

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.691-691

2011

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The importance of environment on respiratory genotype/phenotype relationships in the Inuit

Allergy (Copenhagen), 2010-02, Vol.65 (2), p.229-237

2010

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Optimizing Precision Medicine for Public Health

Frontiers in public health, 2019, Vol.7, p.42-42

2019

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Cerebral palsy and genomics: an international consortium

Developmental medicine and child neurology, 2018-02, Vol.60 (2), p.209-210

2018

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Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges

Frontiers in public health, 2019, Vol.7, p.40-40

2019

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Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth

Human molecular genetics, 2015-09, Vol.24 (17), p.4775-4779

2015

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Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.2972-2980

2013

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The relationship between fine and gross motor ability, self-perceptions and self-worth in children and adolescents

Human movement science, 2006-02, Vol.25 (1), p.65-75

2006

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Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

Journal of medical genetics, 2011-02, Vol.48 (2), p.105-116

2011

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Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity

Advances in experimental medicine and biology, 2017, Vol.1031, p.511-520

2017

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Key outcomes from stakeholder workshops at a symposium to inform the development of an Australian national plan for rare diseases

Orphanet journal of rare diseases, 2012-08, Vol.7 (1), p.50-50

2012

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Parental smoking impairs vaccine responses in children with atopic genotypes

Journal of Allergy and Clinical Immunology, 2007-02, Vol.119 (2), p.366-374

2007

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

BMJ case reports, 2011-09, Vol.2011 (sep19 1), p.bcr0720114445-bcr0720114445

2011

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The Undiagnosed Diseases Network International: Five years and more

Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome

CLINIFACE: PHENOTYPIC VISUALISATION AND ANALYSIS USING NON-RIGID REGISTRATION OF 3D FACIAL IMAGES

Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea

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

Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome

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

Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene

3D facial analysis can investigate vaccine responses

New Opportunities for Evidence in Fetal Alcohol Spectrum Disorder

Association of CD14 Promoter Polymorphism with Otitis Media and Pneumococcal Vaccine Responses

Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy

P3.32 The molecular genetics of monogenic neuromuscular disorders characterised by reduced foetal movement

The importance of environment on respiratory genotype/phenotype relationships in the Inuit

Optimizing Precision Medicine for Public Health

Cerebral palsy and genomics: an international consortium

Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

The relationship between fine and gross motor ability, self-perceptions and self-worth in children and adolescents

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity

Key outcomes from stakeholder workshops at a symposium to inform the development of an Australian national plan for rare diseases

Parental smoking impairs vaccine responses in children with atopic genotypes

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

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