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A Nuclear mtDNA Concatemer (Mega-NUMT) Could Mimic Paternal Inheritance of Mitochondrial Genome

Frontiers in genetics, 2019-06, Vol.10, p.518-518

2019

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AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss

Genetics in medicine, 2018-12, Vol.20 (12), p.1600-1608

2018

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Recurrent 10q22-q23 Deletions: A Genomic Disorder on 10q Associated with Cognitive and Behavioral Abnormalities

American journal of human genetics, 2007-05, Vol.80 (5), p.938-947

2007

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Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test

Genetics in medicine, 2024-01, Vol.26 (1), p.100995, Article 100995

2024

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Chicken β-globin insulators fail to shield the nkx2.5 promoter from integration site effects in zebrafish

Molecular genetics and genomics : MGG, 2013-12, Vol.288 (12), p.717-725

2013

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Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Genetics in medicine, 2021-06, Vol.23 (6), p.1028-1040

2021

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Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease

Molecular genetics and metabolism, 2022-01, Vol.135 (1), p.93-101

2022

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Global increases in both common and rare copy number load associated with autism

Human molecular genetics, 2013-07, Vol.22 (14), p.2870-2880

2013

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The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene

Clinical genetics, 2022-02, Vol.101 (2), p.183-189

2022

Volltextzugriff (PDF)

Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital

American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.1890-1896

2018

Volltextzugriff (PDF)

Efficient disruption of Zebrafish genes using a Gal4-containing gene trap

BMC genomics, 2013-09, Vol.14 (1), p.619-619, Article 619

2013

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The phenotype of recurrent 10q22q23 deletions and duplications

European journal of human genetics : EJHG, 2011-04, Vol.19 (4), p.400-408

2011

Volltextzugriff (PDF)

Alpha-tectorin involvement in hearing disabilities : one gene : two phenotypes

Human genetics, 1999-09, Vol.105 (3), p.211-216

1999

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A Gene for Autosomal Dominant Progressive Cone Dystrophy (CORD5) Maps to Chromosome 17p12–p13

Genomics (San Diego, Calif.), 1995-11, Vol.30 (2), p.281-286

1995

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Evidence for Digenic Inheritance of Nonsyndromic Hereditary Hearing Loss in a Swedish Family

American journal of human genetics, 1998-09, Vol.63 (3), p.786-793

1998

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Chromosome-specific panels of tri- and tetranucleotide microsatellite markers for multiplex fluorescent detection and automated genotyping: evaluation of their utility in pathology and forensics

Genome research, 1996-12, Vol.6 (12), p.1170

1996

Volltextzugriff (PDF)

The geographic distribution of monoamine oxidase haplotypes supports a bottleneck during the dispersion of modern humans from Africa

Journal of molecular evolution, 2001-02, Vol.52 (2), p.157-163

2001

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A Nuclear mtDNA Concatemer (Mega-NUMT) Could Mimic Paternal Inheritance of Mitochondrial Genome

AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss

Recurrent 10q22-q23 Deletions: A Genomic Disorder on 10q Associated with Cognitive and Behavioral Abnormalities

Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test

Chicken β-globin insulators fail to shield the nkx2.5 promoter from integration site effects in zebrafish

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease

Global increases in both common and rare copy number load associated with autism

The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene

Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital

Efficient disruption of Zebrafish genes using a Gal4-containing gene trap

The phenotype of recurrent 10q22q23 deletions and duplications

Alpha-tectorin involvement in hearing disabilities : one gene : two phenotypes

A Gene for Autosomal Dominant Progressive Cone Dystrophy (CORD5) Maps to Chromosome 17p12–p13

Evidence for Digenic Inheritance of Nonsyndromic Hereditary Hearing Loss in a Swedish Family

Chromosome-specific panels of tri- and tetranucleotide microsatellite markers for multiplex fluorescent detection and automated genotyping: evaluation of their utility in pathology and forensics

The geographic distribution of monoamine oxidase haplotypes supports a bottleneck during the dispersion of modern humans from Africa

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