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Painful and painless channelopathies

Lancet neurology, 2014-06, Vol.13 (6), p.587-599

2014

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Primary microcephaly: do all roads lead to Rome?

Trends in genetics, 2009-11, Vol.25 (11), p.501-510

2009

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Autosomal Recessive Primary Microcephaly (MCPH): A Review of Clinical, Molecular, and Evolutionary Findings

American journal of human genetics, 2005-05, Vol.76 (5), p.717-728

2005

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

Lancet neurology, 2014-11, Vol.13 (11), p.1152-1160

2014

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

PLoS genetics, 2009-03, Vol.5 (3), p.e1000423-e1000423

2009

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Functional SNP allele discovery (fSNPd): an approach to find highly penetrant, environmental-triggered genotypes underlying complex human phenotypes

BMC genomics, 2017-12, Vol.18 (1), p.944-944, Article 944

2017

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An SCN9A channelopathy causes congenital inability to experience pain

Nature, 2006-12, Vol.444 (7121), p.894-898

2006

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

Brain (London, England : 1878), 2018-07, Vol.141 (7), p.1934-1945

2018

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

Nature communications, 2016-03, Vol.7 (1), p.11005-11005, Article 11005

2016

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A Gain-of-Function Mutation in TRPA1 Causes Familial Episodic Pain Syndrome

Neuron (Cambridge, Mass.), 2010-06, Vol.66 (5), p.671-680

2010

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

The Journal of neuroscience, 2015-05, Vol.35 (20), p.7674-7681

2015

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Pain perception is altered by a nucleotide polymorphism in SCN9A

Proceedings of the National Academy of Sciences - PNAS, 2010-03, Vol.107 (11), p.5148-5153

2010

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Prdm12 Directs Nociceptive Sensory Neuron Development by Regulating the Expression of the NGF Receptor TrkA

Cell reports (Cambridge), 2019-03, Vol.26 (13), p.3522-3536.e5

2019

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Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

American journal of human genetics, 2008-08, Vol.83 (2), p.170-179

2008

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A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

Nature genetics, 2003-04, Vol.33 (4), p.497-501

2003

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Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

Science (American Association for the Advancement of Science), 2012-02, Vol.335 (6071), p.966-969

2012

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The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis

American journal of human genetics, 2011-05, Vol.88 (5), p.523-535

2011

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Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency

Journal of allergy and clinical immunology, 2017-02, Vol.139 (2), p.634-642.e5

2017

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Human Labor Pain Is Influenced by the Voltage-Gated Potassium Channel KV6.4 Subunit

Cell reports (Cambridge), 2020-07, Vol.32 (3), p.107941, Article 107941

2020

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A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

Nature genetics, 2005-04, Vol.37 (4), p.353-355

2005

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A third HSAN5 mutation disrupts the nerve growth factor furin cleavage site

Molecular pain, 2018-01, Vol.14, p.1744806918809223-1744806918809223

2018

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ASPM is a major determinant of cerebral cortical size

Nature genetics, 2002-10, Vol.32 (2), p.316-320

2002

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

PLoS biology, 2004-05, Vol.2 (5), p.E126-0653

2004

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Painful and painless channelopathies

Primary microcephaly: do all roads lead to Rome?

Autosomal Recessive Primary Microcephaly (MCPH): A Review of Clinical, Molecular, and Evolutionary Findings

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

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

Functional SNP allele discovery (fSNPd): an approach to find highly penetrant, environmental-triggered genotypes underlying complex human phenotypes

An SCN9A channelopathy causes congenital inability to experience pain

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

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

A Gain-of-Function Mutation in TRPA1 Causes Familial Episodic Pain Syndrome

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

Pain perception is altered by a nucleotide polymorphism in SCN9A

Prdm12 Directs Nociceptive Sensory Neuron Development by Regulating the Expression of the NGF Receptor TrkA

Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis

Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency

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

Human Labor Pain Is Influenced by the Voltage-Gated Potassium Channel KV6.4 Subunit

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

A third HSAN5 mutation disrupts the nerve growth factor furin cleavage site

ASPM is a major determinant of cerebral cortical size

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

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