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Charcot-Marie-Tooth disease and pathways to molecular based therapies

Clinical genetics, 2014-11, Vol.86 (5), p.422-431

2014

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Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

Journal of medical genetics, 2009-06, Vol.46 (6), p.382-388

2009

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Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

Journal of medical genetics, 2009-12, Vol.46 (12), p.825-833

2009

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Genomic disorders 20 years on—mechanisms for clinical manifestations

Clinical genetics, 2018-03, Vol.93 (3), p.439-449

2018

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Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

Journal of medical genetics, 2005-04, Vol.42 (4), p.358-365

2005

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Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases

Clinical genetics, 2007-06, Vol.71 (6), p.540-550

2007

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Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22

Clinical genetics, 2012-06, Vol.81 (6), p.532-541

2012

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Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease

Brain (London, England : 1878), 2003-03, Vol.126 (3), p.590-597

2003

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Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia

Clinical genetics, 2007-01, Vol.71 (1), p.67-75

2007

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Olfactory copy number association with age at onset of Alzheimer disease

Neurology, 2011-04, Vol.76 (15), p.1302-1309

2011

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Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome

Journal of autism and developmental disorders, 2013-10, Vol.43 (10), p.2484-2490

2013

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Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

Nature genetics, 1998-04, Vol.18 (4), p.382-384

1998

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Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

Trends in genetics, 1998-10, Vol.14 (10), p.417-422

Lupski, James R

1998

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Evaluation of distal symmetric polyneuropathy: The role of laboratory and genetic testing (an evidence-based review)

Muscle & nerve, 2009-01, Vol.39 (1), p.116-125

2009

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High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease

Clinical genetics, 2013-01, Vol.83 (1), p.66-72

2013

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Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange

Journal of medical genetics, 2009-09, Vol.46 (9), p.626-634

2009

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Evaluation of distal symmetric polyneuropathy: The role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review)

Muscle & nerve, 2009-01, Vol.39 (1), p.106-115

2009

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Altered neuronal network and rescue in a human MECP2 duplication model

Molecular psychiatry, 2016-02, Vol.21 (2), p.178-188

2016

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Molecular and phenotypic characterization of atypical Williams-Beuren syndrome

Clinical genetics, 2014-11, Vol.86 (5), p.487-491

2014

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Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness

Clinical genetics, 2013-05, Vol.83 (5), p.457-461

2013

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Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis

Journal of dental research, 2018-01, Vol.97 (1), p.49-59

2018

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Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?

Clinical genetics, 2009-04, Vol.75 (4), p.394-400

2009

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Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype

Neurology, 1999-06, Vol.52 (9), p.1827-1827

1999

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Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders

Journal of medical genetics, 2004-02, Vol.41 (2), p.113-119

2004

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Charcot-Marie-Tooth disease and pathways to molecular based therapies

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

Genomic disorders 20 years on—mechanisms for clinical manifestations

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases

Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease

Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia

Olfactory copy number association with age at onset of Alzheimer disease

Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

Evaluation of distal symmetric polyneuropathy: The role of laboratory and genetic testing (an evidence-based review)

High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease

Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange

Evaluation of distal symmetric polyneuropathy: The role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review)

Altered neuronal network and rescue in a human MECP2 duplication model

Molecular and phenotypic characterization of atypical Williams-Beuren syndrome

Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness

Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis

Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?

Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype

Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders

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