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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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Mice Mutant in the DM Domain Gene Dmrt4 Are Viable and Fertile but Have Polyovular Follicles

Molecular and Cellular Biology, 2006-12, Vol.26 (23), p.8984-8991

2006

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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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Zebrafish dnm1a gene plays a role in the formation of axons and synapses in the nervous tissue

Journal of neuroscience research, 2023-08, Vol.101 (8), p.1345-1359

2023

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Gene trapping using gal4 in zebrafish

Journal of visualized experiments, 2013-09 (79), p.e50113

2013

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Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent

The Journal of molecular diagnostics : JMD, 2024-06, Vol.26 (6), p.510-519

2024

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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

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Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy

JAMA network open, 2019-04, Vol.2 (4), p.e192129-e192129

2019

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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

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Increased monoamine oxidase messenger RNA expression levels in frontal cortex of Alzheimer's disease patients

Neuroscience letters, 2002-06, Vol.326 (1), p.56-60

2002

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Linkage analysis of a large swedish kindred provides further support for a susceptibility locus for schizophrenia on chromosome 6p23

American journal of medical genetics, 1999-08, Vol.88 (4), p.369-377

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

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

Mice Mutant in the DM Domain Gene Dmrt4 Are Viable and Fertile but Have Polyovular Follicles

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

Zebrafish dnm1a gene plays a role in the formation of axons and synapses in the nervous tissue

Gene trapping using gal4 in zebrafish

Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent

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

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy

The phenotype of recurrent 10q22q23 deletions and duplications

Increased monoamine oxidase messenger RNA expression levels in frontal cortex of Alzheimer's disease patients

Linkage analysis of a large swedish kindred provides further support for a susceptibility locus for schizophrenia on chromosome 6p23

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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