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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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Phenotype expansion and development in Kosaki overgrowth syndrome

Clinical genetics, 2018-04, Vol.93 (4), p.919-924

2018

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CNV and nervous system diseases – what’s new?

Cytogenetic and genome research, 2008-01, Vol.123 (1-4), p.54-64

2008

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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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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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Genomic and clinical characteristics of microduplications in chromosome 17

American journal of medical genetics. Part A, 2010-05, Vol.152A (5), p.1101-1110

2010

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An autosomal recessive CMT family with a new mutation in the NDRG1 gene

Journal of the neurological sciences, 2013-10, Vol.333, p.e478-e478

2013

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Exon-Targeted Array CGH for Identification of Clinically Relevant Small-Sized, Intragenic CNVs

Cancer genetics, 2016-05, Vol.209 (5), p.239-240

2016

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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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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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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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Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13

Human genetics, 2000-01, Vol.106 (1), p.66-72

2000

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Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits

Cold Spring Harbor Symposia on Quantitative Biology, 2003, Vol.68, p.445

2003

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Olfactory copy number association with age at onset of Alzheimer disease

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

2011

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Sporadic traits

Nature genetics, 2007-07, Vol.39 (7), p.823

2007

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Genotyping microarray (gene chip) for the ABCR (ABCA4) gene

Human mutation, 2003-11, Vol.22 (5), p.395-403

2003

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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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Regression timing and associated features in MECP2 duplication syndrome

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

2013

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Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13

Human genetics, 2000-01, Vol.106 (1), p.66-72

2000

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Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance

Human genetics, 2000-02, Vol.106 (2), p.244-248

2000

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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

1999

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34 - Exon-Targeted Array CGH for Identification of Clinically Relevant Small-Sized, Intragenic CNVs

Cancer genetics, 2016-05, Vol.209 (5), p.239-240

2016

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Genomic disorders 20 years on—mechanisms for clinical manifestations

Phenotype expansion and development in Kosaki overgrowth syndrome

CNV and nervous system diseases – what’s new?

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

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

Genomic and clinical characteristics of microduplications in chromosome 17

An autosomal recessive CMT family with a new mutation in the NDRG1 gene

Exon-Targeted Array CGH for Identification of Clinically Relevant Small-Sized, Intragenic CNVs

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

Altered neuronal network and rescue in a human MECP2 duplication model

Practice Parameter: The Evaluation of Distal Symmetric Polyneuropathy: The Role of Autonomic Testing, Nerve Biopsy, and Skin Biopsy (An Evidence-Based Review)

Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis

Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13

Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits

Olfactory copy number association with age at onset of Alzheimer disease

Sporadic traits

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene

Molecular and phenotypic characterization of atypical Williams-Beuren syndrome

Regression timing and associated features in MECP2 duplication syndrome

Practice Parameter: The Evaluation of Distal Symmetric Polyneuropathy: The Role ofLaboratory and Genetic Testing (An Evidence-Based Review)

Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13

Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance

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

34 - Exon-Targeted Array CGH for Identification of Clinically Relevant Small-Sized, Intragenic CNVs

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