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Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening

American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2100-2105

2012

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Direct Molecular Haplotyping of the IVS-8 Poly(TG) and PolyT Repeat Tracts in the Cystic Fibrosis Gene by Melting Curve Analysis of Hybridization Probes

Clinical chemistry (Baltimore, Md.), 2005-09, Vol.51 (9), p.1619-1623

2005

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Triplet Repeat Primed PCR Simplifies Testing for Huntington Disease

The Journal of molecular diagnostics : JMD, 2013-03, Vol.15 (2), p.255-262

2013

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Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder

European journal of medical genetics, 2016-09, Vol.59 (9), p.470-473

2016

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Processed Pseudogene Confounding Deletion/Duplication Assays for SMAD4

The Journal of molecular diagnostics : JMD, 2015-09, Vol.17 (5), p.576-582

2015

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Chromosomal loss of 3q26.3‐3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.159-165

2012

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Optimal primer selection for clonality assessment by polymerase chain reaction analysis III. Intermediate and high-grade B-cell neoplasms

Human pathology, 1996-04, Vol.27 (4), p.373-380

1996

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Copy number variation and incomplete linkage disequilibrium interfere with the HCP5 genotyping assay for abacavir hypersensitivity

Genetic testing and molecular biomarkers, 2012-09, Vol.16 (9), p.1111

2012

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Response to the letter “Simultaneous Molecular Haplotyping of Both IVS8 (TG)m and (T)n Tracts in the CFTR Gene: Still a Challenge” by Costa et al

Clinical chemistry (Baltimore, Md.), 2006-08, Vol.52 (8), p.1622-1622

2006

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Comparison of Automated Short Tandem Repeat and Manual Variable Number of Tandem Repeat Analysis of Chimerism in Bone Marrow Transplant Patients

Diagnostic molecular pathology, 2000-06, Vol.9 (2), p.91-97

2000

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Simultaneous Molecular Haplotyping of Both IVS8 (TG)^sub m^ and (T)^sub n^ Tracts in the CFTR Gene: Still a Challenge / Response to the letter "Simultaneous Molecular Haplotyping of Both IVS8 (TG)^sub m^ and (T)^sub n^ Tracts in the CFTR Gene: Still a Challenge" by Costa et al

Clinical chemistry (Baltimore, Md.), 2006-08, Vol.52 (8), p.1621

2006

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Design and Application of Noncontinuously Binding Probes Used for Haplotyping and Genotyping

Clinical chemistry (Baltimore, Md.), 2008-06, Vol.54 (6), p.990-999

2008

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Quantification of HER2/neu Gene Amplification by Competitive PCR Using Fluorescent Melting Curve Analysis

Clinical chemistry (Baltimore, Md.), 2001-05, Vol.47 (5), p.844-851

2001

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Comparison of Two Quantitative Polymerase Chain Reaction Methods for Detecting HER2/ neu Amplification

The Journal of molecular diagnostics : JMD, 2003-08, Vol.5 (3), p.184-190

2003

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Long-Range (17.7 kb) Allele-Specific Polymerase Chain Reaction Method for Direct Haplotyping of R117H and IVS-8 Mutations of the Cystic Fibrosis Transmembrane Regulator Gene

The Journal of molecular diagnostics : JMD, 2004-08, Vol.6 (3), p.264-270

2004

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Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays

Clinical chemistry (Baltimore, Md.), 2004-01, Vol.50 (1), p.251-254

2004

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Detection and identification of base alterations within the region of factor V leiden by fluorescent melting curves

Molecular diagnosis, 1998-12, Vol.3 (4), p.203-210

1998

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Simultaneous Detection of C282Y and H63D Hemochromatosis Mutations by Dual-color Probes

Molecular diagnosis, 2000, Vol.5 (2), p.107-116

2000

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A rapid practical RT-PCR-based approach for the detection of the PML/RARalpha fusion transcript in acute promyelocytic leukemia

American journal of clinical pathology, 1999-08, Vol.112 (2), p.256-262

1999

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Simultaneous detection of C282Y and H63D hemochromatosis mutations by dual-color probes

Molecular diagnosis, 2000-06, Vol.5 (2), p.107-116

2000

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Simultaneous detection of C282Y and H63D hemochromatosis mutations by dual-color probes

Molecular diagnosis, 2000, Vol.5 (2), p.107-116

2000

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Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability

American Journal of Medical Genetics Part A, 2012, Vol.158A (1), p.159-165

2012

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Activation of the ATPase Activity of Hsp90 by the Stress-Regulated Cochaperone Aha1

Molecular cell, 2002-12, Vol.10 (6), p.1307-1318

2002

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Fulminant hepatic failure in a patient with advanced extragonadal germ cell tumour

BMJ case reports, 2010-09, Vol.2010 (sep23 1), p.bcr0120102661-bcr0120102661

2010

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Fulminant hepatic failure in a patient with advanced extragonadal germ cell tumour

BMJ Case Reports, 2010, Vol.2010

2010

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Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening

Direct Molecular Haplotyping of the IVS-8 Poly(TG) and PolyT Repeat Tracts in the Cystic Fibrosis Gene by Melting Curve Analysis of Hybridization Probes

Triplet Repeat Primed PCR Simplifies Testing for Huntington Disease

Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder

Processed Pseudogene Confounding Deletion/Duplication Assays for SMAD4

Chromosomal loss of 3q26.3‐3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability

Optimal primer selection for clonality assessment by polymerase chain reaction analysis III. Intermediate and high-grade B-cell neoplasms

Copy number variation and incomplete linkage disequilibrium interfere with the HCP5 genotyping assay for abacavir hypersensitivity

Response to the letter “Simultaneous Molecular Haplotyping of Both IVS8 (TG)m and (T)n Tracts in the CFTR Gene: Still a Challenge” by Costa et al

Comparison of Automated Short Tandem Repeat and Manual Variable Number of Tandem Repeat Analysis of Chimerism in Bone Marrow Transplant Patients

Simultaneous Molecular Haplotyping of Both IVS8 (TG)^sub m^ and (T)^sub n^ Tracts in the CFTR Gene: Still a Challenge / Response to the letter "Simultaneous Molecular Haplotyping of Both IVS8 (TG)^sub m^ and (T)^sub n^ Tracts in the CFTR Gene: Still a Challenge" by Costa et al

Design and Application of Noncontinuously Binding Probes Used for Haplotyping and Genotyping

Quantification of HER2/neu Gene Amplification by Competitive PCR Using Fluorescent Melting Curve Analysis

Comparison of Two Quantitative Polymerase Chain Reaction Methods for Detecting HER2/ neu Amplification

Long-Range (17.7 kb) Allele-Specific Polymerase Chain Reaction Method for Direct Haplotyping of R117H and IVS-8 Mutations of the Cystic Fibrosis Transmembrane Regulator Gene

Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays

Detection and identification of base alterations within the region of factor V leiden by fluorescent melting curves

Simultaneous Detection of C282Y and H63D Hemochromatosis Mutations by Dual-color Probes

A rapid practical RT-PCR-based approach for the detection of the PML/RARalpha fusion transcript in acute promyelocytic leukemia

Simultaneous detection of C282Y and H63D hemochromatosis mutations by dual-color probes

Simultaneous detection of C282Y and H63D hemochromatosis mutations by dual-color probes

Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability

Activation of the ATPase Activity of Hsp90 by the Stress-Regulated Cochaperone Aha1

Fulminant hepatic failure in a patient with advanced extragonadal germ cell tumour

Fulminant hepatic failure in a patient with advanced extragonadal germ cell tumour

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