List of works - Helen Griffin

A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.

scientific article published on 13 April 2012

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

scientific article published on 16 April 2012

A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism

scientific article published on 25 November 2014

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

scientific article published on 19 January 2018

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency

scientific article

Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes

scientific article (publication date: May 2014)

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations

scientific article

Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease

scientific article published on October 2015

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

scientific article published on 20 June 2014

Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

scientific article

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

scientific article

Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB.

scientific article published on April 2015

Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

scientific article published in January 2015

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

scientific article published on 22 January 2016

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA

scientific article

Dual proteolytic pathways govern glycolysis and immune competence

scientific article

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

scientific article

Erratum to: Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

scientific article

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

scientific article published on 01 June 2021

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

scientific article

Exome sequencing in dementia with Lewy bodies

scientific article published on 2 February 2016

Exome sequencing in undiagnosed inherited and sporadic ataxias

scientific article

Functionally significant, rare transcription factor variants in tetralogy of Fallot

scientific article

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource

scientific article published on 21 December 2016

Genetic heterogeneity of motor neuropathies

scientific article published on March 2017

Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation

scientific article

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood

scientific article published on 3 March 2016

Increased yield of exome sequencing by off-target mitochondrial DNA analysis

scientific article published on 14 February 2015

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization

scientific article

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

scientific article published on 31 October 2020

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

scientific article published on 02 February 2017

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

scientific article published on 8 March 2018

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation.

scientific article published on 2 May 2018

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation

scientific article published on 24 September 2012

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

scientific article

Mutations in glycyl-tRNA-synthetase impair mitochondrial metabolism in neurons.

scientific article published on 10 April 2018

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

scientific article

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

scientific article

NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome

scientific article published on 18 November 2012

Phenotypic convergence of Menkes and Wilson disease

scientific article

Phenotypic variability of TRPV4 related neuropathies

scientific article published on 18 March 2015

Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing

scientific article published in October 2012

RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels

scientific article published on 11 June 2020

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

scientific article

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

article

Reply: Evaluation of exome sequencing variation in undiagnosed ataxias

scientific article published on 4 April 2015

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

scientific article published on 21 November 2013

Respiratory chain deficiency in nonmitochondrial disease

scientific article published on 27 April 2015

SPG7 mutations are a common cause of undiagnosed ataxia

scientific article

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

scientific article

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy

scientific article

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.

scientific article published on October 2010

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

scientific journal article

The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

scientific article published on 10 June 2015

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

scientific article published on 13 March 2013

Titin mutation segregates with hereditary myopathy with early respiratory failure

scientific article

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.

scientific article published in May 2018

Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering

scientific article published on 10 May 2015

List of works by Helen Griffin

A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency

Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations

Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB.

Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA

Dual proteolytic pathways govern glycolysis and immune competence

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Erratum to: Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

Exome sequencing in dementia with Lewy bodies

Exome sequencing in undiagnosed inherited and sporadic ataxias

Functionally significant, rare transcription factor variants in tetralogy of Fallot

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource

Genetic heterogeneity of motor neuropathies

Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood

Increased yield of exome sequencing by off-target mitochondrial DNA analysis

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation.

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

Mutations in glycyl-tRNA-synthetase impair mitochondrial metabolism in neurons.

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome

Phenotypic convergence of Menkes and Wilson disease

Phenotypic variability of TRPV4 related neuropathies

Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing

RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Reply: Evaluation of exome sequencing variation in undiagnosed ataxias

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

Respiratory chain deficiency in nonmitochondrial disease

SPG7 mutations are a common cause of undiagnosed ataxia

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

Titin mutation segregates with hereditary myopathy with early respiratory failure

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.

Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering