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Autism spectrum disorder in the genetics clinic: a review

Clinical genetics, 2013-05, Vol.83 (5), p.399-407

2013

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Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders

Nature communications, 2019-12, Vol.10 (1), p.5519-9, Article 5519

2019

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Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants

Clinical epigenetics, 2019-07, Vol.11 (1), p.103-103, Article 103

2019

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EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines

Genomics (San Diego, Calif.), 2010-02, Vol.95 (2), p.73-83

2010

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Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder

Clinical genetics, 2011-11, Vol.80 (5), p.435-443

2011

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Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus

Neurology, 2004-08, Vol.63 (3), p.565-567

2004

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Cloning and Mapping of a cDNA for Methionine Synthase Reductase, a Flavoprotein Defective in Patients with Homocystinuria

Proceedings of the National Academy of Sciences - PNAS, 1998-03, Vol.95 (6), p.3059-3064

1998

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Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

Nature genetics, 1996-11, Vol.14 (3), p.353-356

1996

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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

Nature genetics, 1996-11, Vol.14 (3), p.357-360

1996

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Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy

Clinical genetics, 2017-04, Vol.91 (4), p.640-646

2017

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Molecular Analysis of the Pds Gene in Pendred Syndrome (Sensorineural Hearing Loss and Goitre)

Human molecular genetics, 1998-07, Vol.7 (7), p.1105-1112

1998

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Mitochondrial DNA haplogroups and mutations in children with acquired central demyelination

Neurology, 2011-03, Vol.76 (9), p.774-780

2011

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Expression Analysis of Six Paralogous Human Hyaluronidase Genes Clustered on Chromosomes 3p21 and 7q31

Genomics (San Diego, Calif.), 1999-09, Vol.60 (3), p.356-361

1999

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Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene

The Journal of biological chemistry, 1993-08, Vol.268 (23), p.17478-17488

1993

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Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays

Human molecular genetics, 2013-11, Vol.22 (22), p.4485-4501

2013

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Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy

Neurology, 2000-08, Vol.55 (3), p.341-346

2000

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Mutations in the C-Terminal Domain of Sonic Hedgehog Cause Holoprosencephaly

Human molecular genetics, 1997-10, Vol.6 (11), p.1847-1853

1997

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Dysregulation of cyclin dependent kinase 6 expression in splenic marginal zone lymphoma through chromosome 7q translocations

Oncogene, 1999-11, Vol.18 (46), p.6271-6277

1999

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Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan

Clinical genetics, 2010-11, Vol.78 (5), p.478-483

2010

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Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls

Neurology, 2003-12, Vol.61 (11), p.1611-1614

2003

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An inversion inv(4)(p12–p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster

Journal of medical genetics, 2006-05, Vol.43 (5), p.429-434

2006

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Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22

Journal of medical genetics, 2003-09, Vol.40 (9), p.671-675

2003

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Genome-wide association study of emotional empathy in children

Scientific reports, 2020-05, Vol.10 (1), p.7469-7469, Article 7469

2020

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Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature

Clinical genetics, 2005-10, Vol.68 (4), p.349-359

2005

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A common variant in PPP1R3 associated with insulin resistance and type 2 diabetes

Diabetes (New York, N.Y.), 1998-09, Vol.47 (9), p.1519-1524

1998

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Autism spectrum disorder in the genetics clinic: a review

Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders

Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants

EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines

Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder

Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus

Cloning and Mapping of a cDNA for Methionine Synthase Reductase, a Flavoprotein Defective in Patients with Homocystinuria

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy

Molecular Analysis of the Pds Gene in Pendred Syndrome (Sensorineural Hearing Loss and Goitre)

Mitochondrial DNA haplogroups and mutations in children with acquired central demyelination

Expression Analysis of Six Paralogous Human Hyaluronidase Genes Clustered on Chromosomes 3p21 and 7q31

Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays

Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy

Mutations in the C-Terminal Domain of Sonic Hedgehog Cause Holoprosencephaly

Dysregulation of cyclin dependent kinase 6 expression in splenic marginal zone lymphoma through chromosome 7q translocations

Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan

Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls

An inversion inv(4)(p12–p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster

Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22

Genome-wide association study of emotional empathy in children

Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature

A common variant in PPP1R3 associated with insulin resistance and type 2 diabetes

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