List of works - Clara van Karnebeek

A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND)

scientific article published on 01 January 2019

A call for global action for rare diseases in Africa

scientific article published on 01 January 2020

A case of splenomegaly in CBL syndrome

scientific article

A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.

scientific article

A novel classification system for research reporting in rare and progressive genetic conditions

scientific article published on 14 March 2019

A proposed nosology of inborn errors of metabolism

scientific article published on 08 June 2018

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

scientific article

A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening

scientific article published on 7 May 2016

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

scientific article published on May 2015

Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture

scientific article

An aetiological study of 25 mentally retarded adults with autism.

scientific article published on March 2002

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation

scientific article published on 09 July 2019

Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

scholarly article published on 13 January 2024

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders

scientific article

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

scientific article published on 15 August 2019

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability ⬇️

scientific article

Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan

scientific article published on 17 July 2019

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

scientific article published on 4 January 2018

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

scientific article

Carbonic Anhydrase VA Deficiency

Case Report

scientific article published in January 2016

Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders

scientific article published on July 2014

Clinical delineation of the PACS1-related syndrome--Report on 19 patients

scientific article published on 3 February 2016

Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease

scientific article

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability

scientific article published on 14 May 2016

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.

scientific article

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency

scientific article published on 16 November 2020

Correction to: FLAGS, frequently mutated genes in public exomes

scientific article published on 29 November 2017

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development

scientific article published in May 2017

Costs of caring for children with an intellectual developmental disorder

scientific article published on 11 April 2015

Current knowledge for pyridoxine-dependent epilepsy: a 2016 update

scientific article published on 30 December 2016

Current treatment and management of pyridoxine-dependent epilepsy

scientific article published on February 2015

De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy

scientific article published on 01 September 2019

Deep brain stimulation and dantrolene for secondary dystonia in x-linked adrenoleukodystrophy

scientific article

Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.

scientific article published on 25 February 2016

Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms

scientific article published on 28 March 2015

Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure

scientific article published on 15 January 2019

Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing

scientific article published on 4 October 2013

Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics

scientific article published on 01 February 2019

Developments in Evidence Creation for Treatments of Inborn Errors of Metabolism

scientific article published on 17 September 2020

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations

scientific article published on 3 August 2017

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.

scientific article published on 21 May 2019

Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.

scientific article

Diagnostic value of a multidisciplinary clinic for intellectual disability

scientific article published on May 2014

Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors

scientific article

Episodic ataxia associated with a de novo SCN2A mutation

scientific article published on 14 June 2016

Etiology of mental retardation in children referred to a tertiary care center: a prospective study

scientific article published in July 2005

Evaluation of the Child With Developmental Impairments

scientific article published in February 2018

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network

scientific article published on 10 April 2020

Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation.

scientific article published on 19 April 2011

Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities

scientific article published on 30 November 2014

FLAGS, frequently mutated genes in public exomes

scientific article

Family‐centred care interventions for children with chronic conditions: A scoping review

scholarly article

From rodent heart to inborn errors of human metabolism

scientific article published on 5 February 2018

Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy

scientific article

Further delineation of the chromosome 14q terminal deletion syndrome

scientific article (publication date: June 2002)

GLUT1 deficiency: progress in unraveling its genetic basis

scientific article published on 29 July 2016

Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype

scientific article published on 29 May 2018

GeneYenta: a phenotype-based rare disease case matching tool based on online dating algorithms for the acceleration of exome interpretation

scientific article published on 19 March 2015

Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G > A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.

scientific article

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study ⬇️

scientific article published on 18 April 2022

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability

scientific article published on 01 November 2018

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in

scientific article published on 01 April 2019

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS. Reply

scientific article published on 01 September 2019

Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

scientific article published on 7 November 2013

Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians

scientific article published on 01 November 2019

Health economic evaluation of plasma oxysterol screening in the diagnosis of Niemann-Pick Type C disease among intellectually disabled using discrete event simulation.

scientific article published on 15 July 2014

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

scientific article

Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives

scientific article published on 20 February 2017

Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome

scientific article published in January 2018

Inborn errors of metabolism

scientific article published on 01 January 2019

Integration of genetic counsellors in genomic testing triage: Outcomes of a Genomic Consultation Service in British Columbia, Canada

scientific article published on 13 August 2020

Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review. ⬇️

scientific article published on 2 May 2018

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism

scientific article

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

scientific article published on 22 December 2015

Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials

scientific article

Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations

scientific article

Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada

scientific article published on 26 February 2015

Metabolic Diet App Suite for inborn errors of amino acid metabolism

scientific article

Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions

Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes

scientific article

Molecular identification in metabolomics using infrared ion spectroscopy.

scientific article published on 13 June 2017

Movement Disorders in Treatable Inborn Errors of Metabolism

scientific article published on 17 December 2018

Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy

scientific article published on 25 June 2020

Mutations in the human UBR1 gene and the associated phenotypic spectrum

scientific article published on 09 April 2014

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

scientific article published on 23 May 2016

New and Views

scientific article published on 20 May 2020

Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients

scientific article published on 16 February 2018

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.

scientific article published on 6 February 2017

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

scientific article published on January 2017

Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada

scientific article published on 30 November 2021

Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

scientific article published on 24 February 2014

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

scientific article published on 01 March 2019

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

scientific article

Phenotypic abnormalities: Terminology and classification

Please Test My Child for a Cancer Gene, but Don't Tell Her.

scientific article published on 13 March 2018

Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up

scientific article

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.

scientific article published on 23 October 2017

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum

scientific article published on 11 January 2016

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

scientific article published on 13 September 2016

Rapid second-tier testing for newborn screening and therapeutic monitoring of maple syrup urine disease

scientific article published in 2014

Response to Newman et al.

scientific article

Response to Shen and Zou

scientific article published on 22 October 2020

Retrospective analysis supports algorithm as efficient diagnostic approach to treatable intellectual developmental disabilities

scientific article published on 9 March 2015

SETD1B-associated neurodevelopmental disorder

scientific article published on 16 June 2020

Secondary Abnormal CSF Neurotransmitter Metabolite Profiles in a Pediatric Tertiary Care Centre

scientific article published on 01 March 2018

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

scientific article published on 17 November 2015

Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking

scientific article

Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic Acid

scientific article published on 22 June 2019

Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis

scientific article published on 16 January 2018

The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia

scientific article published on 30 May 2018

The MorquioBetter Project: Global patient registry for Morquio syndrome type B disease and late-onset GM1-gangliosidosis

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

scientific article published on 7 May 2015

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study

scientific article published on 4 January 2018

The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders

scientific article published on 29 August 2019

The genotypic and phenotypic spectrum of MTO1 deficiency.

scientific article published on 15 November 2017

The genotypic and phenotypic spectrum of PIGA deficiency

scientific article

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy

scientific article published on 22 February 2019

The importance of considering monogenic causes of autoimmunity: A somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus

scientific article published on 30 December 2016

The ketogenic diet as a therapeutic intervention strategy in mitochondrial disease

scientific article published in 2021

The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource

scientific article published on 24 January 2014

The role of clinical response to treatment in determining pathogenicity of genomic variants

scientific article published on 22 October 2020

The role of the clinician in the multi-omics era: are you ready?

scientific article published on 23 January 2018

The treatable intellectual disability APP www.treatable-id.org: a digital tool to enhance diagnosis & care for rare diseases.

scientific article published on 23 July 2012

The variability conundrum in neurometabolic degenerative diseases

scientific article published on 06 November 2020

Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review.

scientific article

Treatment of Creatine Transporter (SLC6A8) Deficiency With Oral S-Adenosyl Methionine as Adjunct to L-arginine, Glycine, and Creatine Supplements

scientific article published on 16 May 2015

Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future

scientific article published on 26 July 2016

Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases

scientific article

Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome.

scientific article

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families

scientific article published on 22 July 2016

[Inborn errors of metabolism are not hopeless; early identification of treatable conditions in children with intellectual disability]

scientific article published on 01 January 2014

metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes

scientific article published on 02 July 2020

List of works by Clara van Karnebeek

A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND)

A call for global action for rare diseases in Africa

A case of splenomegaly in CBL syndrome

A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.

A novel classification system for research reporting in rare and progressive genetic conditions

A proposed nosology of inborn errors of metabolism

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture

An aetiological study of 25 mentally retarded adults with autism.

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation

Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability ⬇️

Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

Carbonic Anhydrase VA Deficiency

Case Report

Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders

Clinical delineation of the PACS1-related syndrome--Report on 19 patients

Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency

Correction to: FLAGS, frequently mutated genes in public exomes

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Costs of caring for children with an intellectual developmental disorder

Current knowledge for pyridoxine-dependent epilepsy: a 2016 update

Current treatment and management of pyridoxine-dependent epilepsy

De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy

Deep brain stimulation and dantrolene for secondary dystonia in x-linked adrenoleukodystrophy

Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.

Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms

Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure

Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing

Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics

Developments in Evidence Creation for Treatments of Inborn Errors of Metabolism

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.

Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.

Diagnostic value of a multidisciplinary clinic for intellectual disability

Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors

Episodic ataxia associated with a de novo SCN2A mutation

Etiology of mental retardation in children referred to a tertiary care center: a prospective study

Evaluation of the Child With Developmental Impairments

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network

Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation.

Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities

FLAGS, frequently mutated genes in public exomes

Family‐centred care interventions for children with chronic conditions: A scoping review

From rodent heart to inborn errors of human metabolism

Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy

Further delineation of the chromosome 14q terminal deletion syndrome

GLUT1 deficiency: progress in unraveling its genetic basis

Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype

GeneYenta: a phenotype-based rare disease case matching tool based on online dating algorithms for the acceleration of exome interpretation

Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G > A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study ⬇️

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS. Reply

Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians

Health economic evaluation of plasma oxysterol screening in the diagnosis of Niemann-Pick Type C disease among intellectually disabled using discrete event simulation.

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives

Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome

Inborn errors of metabolism

Integration of genetic counsellors in genomic testing triage: Outcomes of a Genomic Consultation Service in British Columbia, Canada

Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review. ⬇️

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials

Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations

Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada

Metabolic Diet App Suite for inborn errors of amino acid metabolism