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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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Mutations in the exocyst component EXOC2 cause severe defects in human brain development

The Journal of experimental medicine, 2020-10, Vol.217 (10)

2020

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Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants

American journal of kidney diseases, 2020-08, Vol.76 (2), p.282-287

2020

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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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P191: Mitochondrial dysfunction in Rett syndrome: Searching for biomarkers

Genetics in Medicine Open, 2023, Vol.1 (1), p.100220, Article 100220

2023

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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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Caregiving Perceptions of Chinese Mothers of Children with Intellectual Disability in Hong Kong

Journal of applied research in intellectual disabilities, 2007-03, Vol.20 (2), p.145-156

2007

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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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Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life

BMJ open respiratory research, 2022-02, Vol.9 (1), p.e001139

2022

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Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation

Kidney medicine, 2019-09, Vol.1 (5), p.315-318

2019

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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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Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders

Kidney international, 2017-12, Vol.92 (6), p.1493-1506

2017

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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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Does it help to train attention in dyslexic children: pilot case studies with a ten-session neurofeedback program

International journal on disability and human development : IJDHD, 2014-02, Vol.13 (1), p.45-54

2014

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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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Functional assay for analysis of variants of uncertain significance in maple syrup urine disease

Pathology, 2021-07, Vol.53, p.S42-S42

2021

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Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy

Seizure (London, England), 2018-07, Vol.59, p.132-140

2018

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SPG11 presenting with dystonic tremor in childhood

Parkinsonism & related disorders, 2022-06, Vol.99, p.76-78

2022

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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

Mutations in the exocyst component EXOC2 cause severe defects in human brain development

Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants

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

P191: Mitochondrial dysfunction in Rett syndrome: Searching for biomarkers

RettBASE: Rett syndrome database update

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

Caregiving Perceptions of Chinese Mothers of Children with Intellectual Disability in Hong Kong

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

Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life

Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation

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

Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders

Functional abilities in children and adults with the CDKL5 disorder

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

Does it help to train attention in dyslexic children: pilot case studies with a ten-session neurofeedback program

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

Functional assay for analysis of variants of uncertain significance in maple syrup urine disease

Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy

SPG11 presenting with dystonic tremor in childhood

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