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Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms

American journal of human genetics, 2018-05, Vol.102 (5), p.816-831

2018

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Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing

Human mutation, 2016-04, Vol.37 (4), p.371-384

2016

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The role of exome sequencing in childhood interstitial or diffuse lung disease

Orphanet journal of rare diseases, 2022-09, Vol.17 (1), p.1-350, Article 350

2022

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In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria

Journal of inherited metabolic disease, 2013-11, Vol.36 (6), p.955-959

2013

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Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B

Human mutation, 2011-01, Vol.32 (1), p.E1976-E1984

2011

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Intronic variants in inborn errors of metabolism: Beyond the exome

Frontiers in genetics, 2022-12, Vol.13, p.1031495-1031495

2022

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RettBASE: Rett syndrome database update

Human mutation, 2017-08, Vol.38 (8), p.922-931

2017

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Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder

Frontiers in genetics, 2022-06, Vol.13, p.896125-896125

2022

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Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families

Npj genomic medicine, 2021-03, Vol.6 (1), p.20-20, Article 20

2021

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Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning

International journal of neonatal screening, 2021-06, Vol.7 (2), p.25

2021

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Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders

Twin research and human genetics, 2010-04, Vol.13 (2), p.168-178

2010

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Functional abilities in children and adults with the CDKL5 disorder

American journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.2860-2869

2016

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The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

European journal of human genetics : EJHG, 2013-03, Vol.21 (3), p.266-273

2013

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Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to FANCD1/BRCA2 during adulthood: description of an emerging phenotype

Journal of medical genetics, 2022-09, Vol.59 (9), p.912-915

2022

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Revealing hidden genetic diagnoses in the ocular anterior segment disorders

Genetics in medicine, 2020-10, Vol.22 (10), p.1623-1632

2020

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Genome sequencing in congenital cataracts improves diagnostic yield

Human mutation, 2021-09, Vol.42 (9), p.1173-1183

2021

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Paternal retraction of a fragile X allele to normal size, showing normal function over two generations

American journal of medical genetics. Part A, 2022-01, Vol.188 (1), p.304-309

2022

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Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease

Human mutation, 2016-05, Vol.37 (5), p.488-494

2016

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14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

European journal of human genetics : EJHG, 2013-05, Vol.21 (5), p.522-527

2013

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Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett syndrome

American journal of medical genetics. Part A, 2012-04, Vol.158A (4), p.713-719

2012

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The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness

JIMD Reports, Volume 14, 2014-01, Vol.14, p.55-65

2014

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Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey

International journal of neonatal screening, 2024-03, Vol.10 (1), p.23

2024

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Genomic acquisition of a capsular polysaccharide virulence cluster by non-pathogenic Burkholderia isolates

Genome biology, 2010-08, Vol.11 (8), p.R89-R89

2010

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Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing

The role of exome sequencing in childhood interstitial or diffuse lung disease

In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria

Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B

Intronic variants in inborn errors of metabolism: Beyond the exome

RettBASE: Rett syndrome database update

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder

Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families

Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning

Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders

Functional abilities in children and adults with the CDKL5 disorder

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to FANCD1/BRCA2 during adulthood: description of an emerging phenotype

Revealing hidden genetic diagnoses in the ocular anterior segment disorders

Genome sequencing in congenital cataracts improves diagnostic yield

Paternal retraction of a fragile X allele to normal size, showing normal function over two generations

Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett syndrome

The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness

Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey

Genomic acquisition of a capsular polysaccharide virulence cluster by non-pathogenic Burkholderia isolates

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