List of works - C Geoffrey Woods

A CEP215-HSET complex links centrosomes with spindle poles and drives centrosome clustering in cancer

scientific article published on 18 March 2016

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

scientific article

A family with Papillon-Lefevre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity

scientific article

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.

scientific article published on 7 November 2000

A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome

scientific article

A gene for ataxic cerebral palsy maps to chromosome 9p12-q12.

scientific article

A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25

scientific article

A new Nav1.7 sodium channel mutation I234T in a child with severe pain

scientific article published on 10 April 2010

A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR.

scientific article published in August 2004

A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy ⬇️

scientific article published on October 26, 2010

A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development

scientific article published on 11 June 2015

A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

scientific article

A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2

scientific article

A primary microcephaly protein complex forms a ring around parental centrioles.

scientific article published on 9 October 2011

A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

scientific article

ASOX9Duplication and Familial 46,XX Developmental Testicular Disorder ⬇️

scientific article published on January 6, 2011

ASPM is a major determinant of cerebral cortical size

scientific article (publication date: October 2002)

ASPM mutations identified in patients with primary microcephaly and seizures

scientific article published in September 2005

Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion

scientific article published in May 2004

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

scientific article

An SCN9A channelopathy causes congenital inability to experience pain

scientific article

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings

scientific article (publication date: May 2005)

Autosomal recessive primary microcephaly due to ASPM mutations: An update

scientific article

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation

scientific article

Before progressing from "exomes" to "genomes"… don't forget splicing variants

scientific article published on 12 July 2018

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.

scientific article published in July 2018

CCDC88A mutations cause PEHO-like syndrome in humans and mouse

scientific article published on 25 February 2016

Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development

scientific article

Comparison of enzyme mismatch cleavage and chemical cleavage of mismatch on a defined set of heteroduplexes

scientific article published on 01 January 1997

Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome

scientific article published in September 2004

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism

scientific article

Critical consequences of finding three pathogenic mutations in an individual with recessive disease

scientific article published on 02 August 2010

Cytoskeletal genes regulating brain size

scientific article

De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features

scientific article published on 19 May 2020

Distinguishing the four genetic causes of Jouberts syndrome-related disorders

scientific article published in April 2005

Erratum: Corrigendum: PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

scholarly article published in Nature Genetics

Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

scientific article published on 01 August 2015

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

scientific article

Expanding CEP290 mutational spectrum in ciliopathies

scientific article published on 01 October 2009

Extreme growth failure is a common presentation of ligase IV deficiency

scientific article

Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome

scientific article

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

scientific article

Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

scientific article

Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders ⬇️

scientific article

Human ASPM participates in spindle organisation, spindle orientation and cytokinesis ⬇️

scientific article published on November 2, 2010

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

scientific article

Identification of microcephalin, a protein implicated in determining the size of the human brain

scientific article

Investigating microcephaly

scientific article published on 28 June 2013

Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum

scientific article

Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36

scientific article

Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16.

scientific article published on 4 November 2005

Loss-of-function mutations in sodium channel Nav1.7 cause anosmia.

scientific article

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

scientific article (publication date: December 1999)

MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.

scientific article

Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12

article

Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome

scientific article

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

scientific article

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

scientific article

Neurodevelopmental protein Musashi 1 interacts with the Zika genome and promotes viral replication ⬇️

scientific article

New Mendelian Disorders of Painlessness

scientific article

Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations

scientific article published on 01 April 1999

Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations

scientific article published on May 2015

PEHO syndrome: the endpoint of different genetic epilepsies

scientific article published on 04 October 2018

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

scientific article

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins ⬇️

scientific article published on 10 April 2017

Pain perception is altered by a nucleotide polymorphism in SCN9A

scientific article

Painful and painless channelopathies.

scientific article published on 06 May 2014

Potassium permanganate and tetraethylammonium chloride are a safe and effective substitute for osmium tetroxide in solid-phase fluorescent chemical cleavage of mismatch ⬇️

scientific article published on August 15, 1997

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter

scientific article

Primary microcephaly: do all roads lead to Rome?

scientific article

Protein-truncating mutations in ASPM cause variable reduction in brain size

scientific article published on 21 October 2003

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

scientific article

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

scientific article

Regulation of Nav1.7: A Conserved SCN9A Natural Antisense Transcript Expressed in Dorsal Root Ganglia.

scientific article published on 2 June 2015

Sodium channel genes in pain-related disorders: phenotype-genotype associations and recommendations for clinical use.

scientific article

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online

scientific article

Splice Variants of NaV1.7 Sodium Channels Have Distinct β Subunit-Dependent Biophysical Properties ⬇️

scientific article published on July 24, 2012

The continuing failure to recognise Alström syndrome and further evidence of genetic homogeneity

scientific article published in March 2000

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis

scientific article

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

scientific article published in February 2005

The molecular landscape of ASPM mutations in primary microcephaly

scientific article

The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.

scientific article published on October 1999

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

scientific article

Transcriptional regulator PRDM12 is essential for human pain perception

scientific article

WDR62 is associated with the spindle pole and is mutated in human microcephaly

scientific article

List of works by C Geoffrey Woods

A CEP215-HSET complex links centrosomes with spindle poles and drives centrosome clustering in cancer

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

A family with Papillon-Lefevre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.

A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome

A gene for ataxic cerebral palsy maps to chromosome 9p12-q12.

A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25

A new Nav1.7 sodium channel mutation I234T in a child with severe pain

A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR.

A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy ⬇️

A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development

A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2

A primary microcephaly protein complex forms a ring around parental centrioles.

A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

ASOX9Duplication and Familial 46,XX Developmental Testicular Disorder ⬇️

ASPM is a major determinant of cerebral cortical size

ASPM mutations identified in patients with primary microcephaly and seizures

Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

An SCN9A channelopathy causes congenital inability to experience pain

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings

Autosomal recessive primary microcephaly due to ASPM mutations: An update

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation

Before progressing from "exomes" to "genomes"… don't forget splicing variants

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.

CCDC88A mutations cause PEHO-like syndrome in humans and mouse

Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development

Comparison of enzyme mismatch cleavage and chemical cleavage of mismatch on a defined set of heteroduplexes

Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism

Critical consequences of finding three pathogenic mutations in an individual with recessive disease

Cytoskeletal genes regulating brain size

De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features

Distinguishing the four genetic causes of Jouberts syndrome-related disorders

Erratum: Corrigendum: PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

Expanding CEP290 mutational spectrum in ciliopathies

Extreme growth failure is a common presentation of ligase IV deficiency

Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders ⬇️

Human ASPM participates in spindle organisation, spindle orientation and cytokinesis ⬇️

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

Identification of microcephalin, a protein implicated in determining the size of the human brain

Investigating microcephaly

Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum

Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36

Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16.

Loss-of-function mutations in sodium channel Nav1.7 cause anosmia.

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.

Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12

Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

Neurodevelopmental protein Musashi 1 interacts with the Zika genome and promotes viral replication ⬇️

New Mendelian Disorders of Painlessness

Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations

Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations

PEHO syndrome: the endpoint of different genetic epilepsies

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins ⬇️

Pain perception is altered by a nucleotide polymorphism in SCN9A

Painful and painless channelopathies.

Potassium permanganate and tetraethylammonium chloride are a safe and effective substitute for osmium tetroxide in solid-phase fluorescent chemical cleavage of mismatch ⬇️

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter

Primary microcephaly: do all roads lead to Rome?

Protein-truncating mutations in ASPM cause variable reduction in brain size

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Regulation of Nav1.7: A Conserved SCN9A Natural Antisense Transcript Expressed in Dorsal Root Ganglia.

Sodium channel genes in pain-related disorders: phenotype-genotype associations and recommendations for clinical use.

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online

Splice Variants of NaV1.7 Sodium Channels Have Distinct β Subunit-Dependent Biophysical Properties ⬇️

The continuing failure to recognise Alström syndrome and further evidence of genetic homogeneity

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis