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Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory

Genetics in medicine, 2012-01, Vol.14 (1), p.95-100

2012

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Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening

Genetics in medicine, 2010-03, Vol.12 (3), p.162-173

2010

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A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1

Human molecular genetics, 1995-12, Vol.4 (12), p.2411-2413

1995

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Cystic fibrosis testing 8 years on: Lessons learned from carrier screening and sequencing analysis

Genetics in medicine, 2011-02, Vol.13 (2), p.166-172

2011

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Testing for variants in CYP2C19: Population frequencies and testing experience in a clinical laboratory

Genetics in medicine, 2011-10, p.1

2011

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Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory

Genetics in medicine, 2007-01, Vol.9 (1), p.46-51

2007

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Mitochondrial Encephalomyopathy and Complex III Deficiency Associated with a Stop-Codon Mutation in the Cytochrome b Gene

American journal of human genetics, 2000-12, Vol.67 (6), p.1400-1410

2000

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Extensive sequencing of the CFTR gene : lessons learned from the first 157 patient samples

Human genetics, 2005-12, Vol.118 (3-4), p.331-338

2005

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Technical Validation of a Tm Biosciences Luminex-Based Multiplex Assay for Detecting the American College of Medical Genetics Recommended Cystic Fibrosis Mutation Panel

The Journal of molecular diagnostics : JMD, 2006-07, Vol.8 (3), p.371-375

2006

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Extensive sequencing of the cystic fibrosis transmembrane regulator gene: Assay validation and unexpected benefits of developing a comprehensive test

Genetics in medicine, 2003-01, Vol.5 (1), p.9-14

2003

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CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype

Genetics in medicine, 2006-06, Vol.8 (6), p.339-345

2006

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Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes

Molecular genetics and metabolism, 2005-02, Vol.84 (2), p.176-188

2005

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Cystic fibrosis screening: Lessons learned from the first 320,000 patients

Genetics in medicine, 2004-05, Vol.6 (3), p.136-140

2004

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Molecular screening for diseases frequent in Ashkenazi Jews: Lessons learned from more than 100,000 tests performed in a commercial laboratory

Genetics in medicine, 2004-05, Vol.6 (3), p.145-152

2004

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Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy

American journal of human genetics, 1997, Vol.60 (1), p.160-165

1997

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Technical validation of a multiplex platform to detect thirty mutations in eight genetic diseases prevalent in individuals of Ashkenazi Jewish descent

Genetics in medicine, 2005-11, Vol.7 (9), p.633-639

2005

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Detection of 677CT/1298AC “double variant” chromosomes: Implications for interpretation of MTHFR genotyping results

Genetics in medicine, 2005-04, Vol.7 (4), p.278-282

2005

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Development of a Web-Based Query Tool for Quality Assurance of Clinical Molecular Genetic Test Results

The Journal of molecular diagnostics : JMD, 2007-02, Vol.9 (1), p.95-98

2007

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A vanishing twin as an explanation for discordant fetal sex results with NIPS and ultrasound

CAP Today, 2020-12, Vol.34 (12), p.32-34

2020

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Detection of rare deletion mutation in the alpha-globin gene locus establishes a diagnosis of Hb H disease

CAP Today, 2018-02, Vol.32 (2), p.18-19

2018

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A partial deletion of the aspartoacylase gene is the cause of Canavan disease in a family from Mexico

Journal of medical genetics, 2001-03, Vol.38 (3), p.e9-9

2001

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Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism

Human molecular genetics, 1995-09, Vol.4 (9), p.1681-1684

1995

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An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene

American journal of human genetics, 1995-05, Vol.56 (5), p.1042-1051

1995

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Drosophila Stimulatory G Protein α Subunit Activates Mammalian Adenylyl Cyclase but Interacts Poorly with Mammalian Receptors: Implications for Receptor-G Protein Interaction

Proceedings of the National Academy of Sciences - PNAS, 1991-03, Vol.88 (5), p.1898-1902

1991

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A Drosophila G-protein (alpha) subunit, GF(alpha), expressed in a spatially and temporally restricted pattern during Drosophila development

Proceedings of the National Academy of Sciences - PNAS, 1993-05, Vol.90 (9), p.4236

1993

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Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening

A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1

Cystic fibrosis testing 8 years on: Lessons learned from carrier screening and sequencing analysis

Testing for variants in CYP2C19: Population frequencies and testing experience in a clinical laboratory

Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory

Mitochondrial Encephalomyopathy and Complex III Deficiency Associated with a Stop-Codon Mutation in the Cytochrome b Gene

Extensive sequencing of the CFTR gene : lessons learned from the first 157 patient samples

Technical Validation of a Tm Biosciences Luminex-Based Multiplex Assay for Detecting the American College of Medical Genetics Recommended Cystic Fibrosis Mutation Panel

Extensive sequencing of the cystic fibrosis transmembrane regulator gene: Assay validation and unexpected benefits of developing a comprehensive test

CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype

Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes

Cystic fibrosis screening: Lessons learned from the first 320,000 patients

Molecular screening for diseases frequent in Ashkenazi Jews: Lessons learned from more than 100,000 tests performed in a commercial laboratory

Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy

Technical validation of a multiplex platform to detect thirty mutations in eight genetic diseases prevalent in individuals of Ashkenazi Jewish descent

Detection of 677CT/1298AC “double variant” chromosomes: Implications for interpretation of MTHFR genotyping results

Development of a Web-Based Query Tool for Quality Assurance of Clinical Molecular Genetic Test Results

A vanishing twin as an explanation for discordant fetal sex results with NIPS and ultrasound

Detection of rare deletion mutation in the alpha-globin gene locus establishes a diagnosis of Hb H disease

A partial deletion of the aspartoacylase gene is the cause of Canavan disease in a family from Mexico

Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism

An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene

Drosophila Stimulatory G Protein α Subunit Activates Mammalian Adenylyl Cyclase but Interacts Poorly with Mammalian Receptors: Implications for Receptor-G Protein Interaction

A Drosophila G-protein (alpha) subunit, GF(alpha), expressed in a spatially and temporally restricted pattern during Drosophila development

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