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Extreme length and length variation in the first ribosomal internal transcribed spacer of ladybird beetles (Coleoptera: Coccinellidae)

Molecular biology and evolution, 2001-04, Vol.18 (4), p.648-660

2001

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The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism

Nature communications, 2014-06, Vol.5 (1), p.4074, Article 4074

2014

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Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion

American journal of human genetics, 2005-06, Vol.76 (6), p.1081-1086

2005

Volltextzugriff (PDF)

Identification of nuclear genes responsible for mitochondrial respiratory chain disorders in childhood

Pagnamenta, A

2006

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Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia

Nature genetics, 2016-11, Vol.48 (11), p.1349-1358

2016

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Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

Journal of human genetics, 2012-01, Vol.57 (1), p.70-72

2012

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AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

Acta neuropathologica, 2023-08, Vol.146 (2), p.353-368

2023

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Variable skeletal phenotypes associated with biallelic variants in PRKG2

Journal of medical genetics, 2022-10, Vol.59 (10), p.947

2022

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Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

Science translational medicine, 2010-09, Vol.2 (49), p.49ra68

2010

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Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Genetics in medicine, 2021-11, Vol.23 (11), p.2138-2149

2021

Volltextzugriff (PDF)

Individual common variants exert weak effects on the risk for autism spectrum disorders

Human molecular genetics, 2012-11, Vol.21 (21), p.4781-4792

2012

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Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment

European journal of human genetics : EJHG, 2014-10, Vol.22 (10), p.1165-1171

2014

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Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection

European journal of human genetics : EJHG, 2009-10, Vol.17 (10), p.1347-1353

2009

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A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

Human genetics, 2012-04, Vol.131 (4), p.565-579

2012

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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

Genome medicine, 2023-11, Vol.15 (1), p.94-25, Article 94

2023

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Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism

Journal of neurodevelopmental disorders, 2011-06, Vol.3 (2), p.113-123

2011

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A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3

Journal of neurodevelopmental disorders, 2011-06, Vol.3 (2), p.124-131

2011

Volltextzugriff (PDF)

Identification of nuclear genes responsible for respiratory chain disorders in childhood

Pagnamenta, Alistair

2006

Volltextzugriff (PDF)

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Extreme length and length variation in the first ribosomal internal transcribed spacer of ladybird beetles (Coleoptera: Coccinellidae)

The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism

Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion

Identification of nuclear genes responsible for mitochondrial respiratory chain disorders in childhood

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

Variable skeletal phenotypes associated with biallelic variants in PRKG2

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Individual common variants exert weak effects on the risk for autism spectrum disorders

Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection

Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (vol 21, pg 1308, 2018)

Identification of nuclear genes responsible for respiratory chain disorders in childhood

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