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Vitamin E in Sickle Cell Disease Patients

Annals of the New York Academy of Sciences, 1989-07, Vol.565 (1), p.402-403

1989

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The SWI/SNF chromatin remodeling assemblies BAF and PBAF differentially regulate cell cycle exit and cellular invasion in vivo

PLoS genetics, 2022-01, Vol.18 (1), p.e1009981-e1009981

2022

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SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities

Journal of medical genetics, 2005-02, Vol.42 (2), p.159-165

2005

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Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

Journal of medical genetics, 2003-04, Vol.40 (4), p.242-248

2003

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AAV9 Edits Muscle Stem Cells in Normal and Dystrophic Adult Mice

Molecular therapy, 2019-09, Vol.27 (9), p.1568-1585

2019

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Mutations in the Novel Mitochondrial Protein REEP1 Cause Hereditary Spastic Paraplegia Type 31

American journal of human genetics, 2006-08, Vol.79 (2), p.365-369

2006

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Trisomy 13 and 18—Prevalence and mortality—A multi‐registry population based analysis

American journal of medical genetics. Part A, 2019-12, Vol.179 (12), p.2382-2392

2019

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Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

American journal of human genetics, 2020-04, Vol.106 (4), p.484-495

2020

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Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists

Genetics in medicine, 2020-03, Vol.22 (3), p.574-580

2020

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De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

American journal of human genetics, 2020-08, Vol.107 (2), p.352-363

2020

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Providing genetic testing and genetic counseling for Parkinson’s disease to the community

Genetics in medicine, 2023-10, Vol.25 (10), p.100907, Article 100907

2023

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Identification and Expression Analysis of Spastin Gene Mutations in Hereditary Spastic Paraplegia

American journal of human genetics, 2001-05, Vol.68 (5), p.1077-1085

2001

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Transcriptomic Analysis of Canine Osteosarcoma from a Precision Medicine Perspective Reveals Limitations of Differential Gene Expression Studies

Genes, 2022-04, Vol.13 (4), p.680

2022

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Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians

Human genetics, 2003-12, Vol.114 (1), p.44-50

2003

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Congenital diaphragmatic hernia in 22q11.2 deletion syndrome

American journal of medical genetics. Part A, 2017-01, Vol.173 (1), p.135-142

2017

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Clinical Approach to Genetic Cerebral Arteriopathy in the Adult Patient With Ischemic Stroke

Neurology. Genetics, 2024-10, Vol.10 (5), p.e200182

2024

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Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians

Human genetics, 2001-05, Vol.108 (5), p.385-389

2001

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Genome-Wide Search for Asthma Susceptibility Loci in a Founder Population

Human molecular genetics, 1998-09, Vol.7 (9), p.1393-1398

1998

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Amplification of PPM1D in human tumors abrogates p53 tumor-suppressor activity

Nature genetics, 2002-06, Vol.31 (2), p.210-215

2002

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Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity

Journal of medical genetics, 1997-02, Vol.34 (2), p.169-172

1997

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Laboratory Guidelines for Huntington Disease Genetic Testing

American journal of human genetics, 1998-05, Vol.62 (5), p.1243-1247

1998

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A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter

Journal of medical genetics, 2002-08, Vol.39 (8), p.567-570

2002

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Studies of age-correlated features of cognitive-behavioral development in children and adolescents with genetic disorders

American journal of medical genetics. Part A, 2007-10, Vol.143A (20), p.2478-2489

2007

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spe-12 Encodes a Sperm Cell Surface Protein That Promotes Spermiogenesis in Caenorhabditis elegans

Genetics (Austin), 1999-05, Vol.152 (1), p.209-220

1999

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Vitamin E in Sickle Cell Disease Patients

The SWI/SNF chromatin remodeling assemblies BAF and PBAF differentially regulate cell cycle exit and cellular invasion in vivo

SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

AAV9 Edits Muscle Stem Cells in Normal and Dystrophic Adult Mice

Mutations in the Novel Mitochondrial Protein REEP1 Cause Hereditary Spastic Paraplegia Type 31

Trisomy 13 and 18—Prevalence and mortality—A multi‐registry population based analysis

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

Providing genetic testing and genetic counseling for Parkinson’s disease to the community

Identification and Expression Analysis of Spastin Gene Mutations in Hereditary Spastic Paraplegia

Transcriptomic Analysis of Canine Osteosarcoma from a Precision Medicine Perspective Reveals Limitations of Differential Gene Expression Studies

Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians

Congenital diaphragmatic hernia in 22q11.2 deletion syndrome

Clinical Approach to Genetic Cerebral Arteriopathy in the Adult Patient With Ischemic Stroke

Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23

Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians

Genome-Wide Search for Asthma Susceptibility Loci in a Founder Population

Amplification of PPM1D in human tumors abrogates p53 tumor-suppressor activity

Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity

Laboratory Guidelines for Huntington Disease Genetic Testing

A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter

Studies of age-correlated features of cognitive-behavioral development in children and adolescents with genetic disorders

spe-12 Encodes a Sperm Cell Surface Protein That Promotes Spermiogenesis in Caenorhabditis elegans

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