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Cystic Fibrosis Carrier Testing in an Ethnically Diverse US Population

Clinical chemistry (Baltimore, Md.), 2011-06, Vol.57 (6), p.841-848

2011

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A Role for Chromosomal Microarray Testing in the Workup of Male Infertility

The Journal of molecular diagnostics : JMD, 2020-09, Vol.22 (9), p.1189-1198

2020

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A customized scaffolds approach for the detection and phasing of complex variants by next-generation sequencing

Scientific reports, 2020-09, Vol.10 (1), p.15060-15060, Article 15060

2020

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Comparison of pan‐ethnic and ethnic‐based carrier screening panels for individuals of Ashkenazi Jewish descent

Journal of genetic counseling, 2020-02, Vol.29 (1), p.56-66

2020

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The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities

Prenatal diagnosis, 2014-12, Vol.34 (12), p.1161-1167

2014

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Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel

Genetics in medicine, 2001-05, Vol.3 (3), p.168-176

2001

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The I148T CFTR allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis

Genetics in medicine, 2002-09, Vol.4 (5), p.319-323

2002

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Real-world clinical and genomic analysis of patients with a personal or family history of cancer undergoing germline testing for BRCA1 and BRCA2

Journal of clinical oncology, 2023-06, Vol.41 (16_suppl), p.e22538-e22538

2023

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Improved detection of CFTR mutations in Southern California Hispanic CF patients

Human mutation, 2001-10, Vol.18 (4), p.296-307

2001

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Improved detection of CFTR mutations in southern California Hispanic CF patients

Human mutation, 2002-01, Vol.19 (1), p.79-79

2002

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Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: Association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease

Human mutation, 1997, Vol.10 (2), p.108-115

1997

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Simultaneous Detection of Multiple Point Mutations Using Allele‐Specific Oligonucleotides

Current Protocols in Human Genetics, 2004-09, Vol.41 (1), p.9.4.1-9.4.10

2004

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Screening for truncated NF1 proteins

Nature genetics, 1994-11, Vol.8 (3), p.218-219

1994

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Distribution of 13 truncating mutations in the neurofibromatosis 1 gene

Human molecular genetics, 1995-06, Vol.4 (6), p.975-981

1995

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High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testing

Genetic testing, 2003, Vol.7 (3), p.213-218

2003

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Heterozygous manifestations in four autosomal recessive human cancer-prone syndromes: ataxia telangiectasia, xeroderma pigmentosum, Fanconi anemia, and Bloom syndrome

Mutation research, 1992-12, Vol.284 (1), p.25-36

1992

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Improved detection ofCFTR mutations in Southern California Hispanic CF patients

Human mutation, 2001-10, Vol.18 (4), p.296-307

2001

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Relatively high prevalence of the CFTR mutations, G85E and 1154insTC

Human mutation, 1995, Vol.6 (1), p.95-96

1995

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Nucleotide sequence of a cDNA encoding rat brain carbonic anhydrase II and its deduced amino acid sequence

Gene, 1991-12, Vol.109 (2), p.265-267

1991

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Nucleotide sequence of a cDNA encoding rat brain carbonic anhydrase II and its deduced amino acid sequence

Gene, 1991, Vol.109 (2), p.265-267

1991

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Alternative Splicing of Rat Tropoelastin mRNA is Tissue-Specific and Developmentally Regulated

Matrix (Stuttgart), 1991-11, Vol.11 (5), p.359-366

1991

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The Impact of State 529 Plan Tax Incentives on Take-Up and Savings

Public finance review, 2023-07, Vol.51 (4), p.455-487

2023

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Free School Meal Improves Educational Health and the Learning Environment in a Small Municipality in Norway

Nutrients, 2022-07, Vol.14 (14), p.2989

2022

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C19orf66 is an interferon-induced inhibitor of HCV replication that restricts formation of the viral replication organelle

Journal of hepatology, 2020-09, Vol.73 (3), p.549-558

2020

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Bioaccessibility of nickel and cobalt in synthetic gastric and lung fluids and its potential use in alloy classification

Regulatory toxicology and pharmacology, 2020-02, Vol.110, p.104549, Article 104549

2020

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Cystic Fibrosis Carrier Testing in an Ethnically Diverse US Population

A Role for Chromosomal Microarray Testing in the Workup of Male Infertility

A customized scaffolds approach for the detection and phasing of complex variants by next-generation sequencing

Comparison of pan‐ethnic and ethnic‐based carrier screening panels for individuals of Ashkenazi Jewish descent

The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities

Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel

The I148T CFTR allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis

Real-world clinical and genomic analysis of patients with a personal or family history of cancer undergoing germline testing for BRCA1 and BRCA2

Improved detection of CFTR mutations in Southern California Hispanic CF patients

Improved detection of CFTR mutations in southern California Hispanic CF patients

Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: Association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease

Simultaneous Detection of Multiple Point Mutations Using Allele‐Specific Oligonucleotides

Screening for truncated NF1 proteins

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene

High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testing

Heterozygous manifestations in four autosomal recessive human cancer-prone syndromes: ataxia telangiectasia, xeroderma pigmentosum, Fanconi anemia, and Bloom syndrome

Improved detection ofCFTR mutations in Southern California Hispanic CF patients

Relatively high prevalence of the CFTR mutations, G85E and 1154insTC

Nucleotide sequence of a cDNA encoding rat brain carbonic anhydrase II and its deduced amino acid sequence

Nucleotide sequence of a cDNA encoding rat brain carbonic anhydrase II and its deduced amino acid sequence

Alternative Splicing of Rat Tropoelastin mRNA is Tissue-Specific and Developmentally Regulated

The Impact of State 529 Plan Tax Incentives on Take-Up and Savings

Free School Meal Improves Educational Health and the Learning Environment in a Small Municipality in Norway

C19orf66 is an interferon-induced inhibitor of HCV replication that restricts formation of the viral replication organelle

Bioaccessibility of nickel and cobalt in synthetic gastric and lung fluids and its potential use in alloy classification

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