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Degradation of methylation signals in cryopreserved DNA

Clinical epigenetics, 2023-09, Vol.15 (1), p.1-147, Article 147

2023

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Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR

The Journal of molecular diagnostics : JMD, 2021-08, Vol.23 (8), p.941-951

2021

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MS Analysis of Single-Nucleotide Differences in Circulating Nucleic Acids: Application to Noninvasive Prenatal Diagnosis

Proceedings of the National Academy of Sciences - PNAS, 2004-07, Vol.101 (29), p.10762-10767

2004

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Single-tube nonaplex microsatellite PCR panel for preimplantation genetic diagnosis of Hb Bart's hydrops fetalis syndrome

Prenatal diagnosis, 2015-06, Vol.35 (6), p.534-543

2015

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Single-Tube Screen for Rapid Detection of Repeat Expansions in Seven Common Spinocerebellar Ataxias

Clinical chemistry (Baltimore, Md.), 2022-06, Vol.68 (6), p.794-802

2022

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Evaluation of Nanofluidics Technology for High-Throughput SNP Genotyping in a Clinical Setting

The Journal of molecular diagnostics : JMD, 2011-05, Vol.13 (3), p.305-312

2011

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High-Throughput Methylation-Specific Triplet-Primed PCR and Melting Curve Analysis for Selective and Reliable Identification of Actionable FMR1 Genotypes

The Journal of molecular diagnostics : JMD, 2022-03, Vol.24 (3), p.241-252

2022

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Rapid Molecular Screen of Spinocerebellar Ataxia Types 1, 2, and 3 by Triplet-Primed PCR and Melting Curve Analysis

The Journal of molecular diagnostics : JMD, 2021-05, Vol.23 (5), p.565-576

2021

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Single-Step Scalable-Throughput Molecular Screening for Huntington Disease

Clinical chemistry (Baltimore, Md.), 2008-06, Vol.54 (6), p.964-972

2008

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Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management

Archives of disease in childhood, 2021-01, Vol.106 (1), p.31

2021

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Defining the performance parameters of a rapid screening tool for myotonic dystrophy type 1 based on triplet-primed PCR and melt curve analysis

Expert review of molecular diagnostics, 2016-11, Vol.16 (11), p.1221-1232

2016

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Evaluation of three polygenic risk score models for the prediction of breast cancer risk in Singapore Chinese

Oncotarget, 2018-02, Vol.9 (16), p.12796-12804

2018

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Enhanced Detection and Sizing of the HTT CAG Repeat Expansion in Huntington Disease Using an Improved Triplet-Primed PCR Assay

Neuro-degenerative diseases, 2016-01, Vol.16 (5-6), p.348-351

2016

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Simplified strategy for rapid first-line screening of fragile X syndrome: closed-tube triplet-primed PCR and amplicon melt peak analysis

Expert reviews in molecular medicine, 2015-05, Vol.17, p.e7-e7, Article e7

2015

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Screening for CGG Repeat Expansion in the FMR1 Gene by Melting Curve Analysis of Combined 5' and 3' Direct Triplet-Primed PCRs

Clinical chemistry (Baltimore, Md.), 2012-03, Vol.58 (3), p.568-579

2012

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Clinical application of targeted long read sequencing in prenatal beta‐thalassemia testing and genetic counseling

Molecular genetics & genomic medicine, 2024-01, Vol.12 (1), p.e2285-n/a

2024

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Efficient and Highly Sensitive Screen for Myotonic Dystrophy Type 1 Using a One-Step Triplet-Primed PCR and Melting Curve Assay

The Journal of molecular diagnostics : JMD, 2015-03, Vol.17 (2), p.128-135

2015

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Single-tube methylation-specific duplex-PCR assay for rapid and accurate diagnosis of Fragile X Mental Retardation 1-related disorders

Expert review of molecular diagnostics, 2015-03, Vol.15 (3), p.431-441

2015

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Methylation-specific triplet-primed PCR and melting curve analysis as a rapid screening tool for identifying actionable FMR1 genotypes

Clinical chemistry (Baltimore, Md.), 2013-11, Vol.59 (11), p.1668-1670

2013

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Elucidating the spectrum of alpha-thalassemia mutations in Iran

Haematologica (Roma), 2007-07, Vol.92 (7), p.992-993

2007

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Detection and Discrimination between Deletional and Non-Deletional Prader-Willi and Angelman Syndromes by Methylation-Specific PCR and Quantitative Melting Curve Analysis

The Journal of molecular diagnostics : JMD, 2009-09, Vol.11 (5), p.446-449

2009

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α-Thalassemia Mutation Analyses in Mazandaran Province, North Iran

Hemoglobin, 2009, Vol.33 (2), p.115-123

2009

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α-Thalassemia Mutations in Gilan Province, North Iran

Hemoglobin, 2009, Vol.33 (3-4), p.235-241

2009

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Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common α-thalassemia point mutations and deletions

Clinical chemistry and laboratory medicine, 2007-01, Vol.45 (5), p.605-610

2007

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α-Thalassemia Mutations in Khuzestan Province, Southwest Iran

Hemoglobin, 2008-01, Vol.32 (6), p.546-552

2008

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Degradation of methylation signals in cryopreserved DNA

Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR

MS Analysis of Single-Nucleotide Differences in Circulating Nucleic Acids: Application to Noninvasive Prenatal Diagnosis

Single-tube nonaplex microsatellite PCR panel for preimplantation genetic diagnosis of Hb Bart's hydrops fetalis syndrome

Single-Tube Screen for Rapid Detection of Repeat Expansions in Seven Common Spinocerebellar Ataxias

Evaluation of Nanofluidics Technology for High-Throughput SNP Genotyping in a Clinical Setting

High-Throughput Methylation-Specific Triplet-Primed PCR and Melting Curve Analysis for Selective and Reliable Identification of Actionable FMR1 Genotypes

Rapid Molecular Screen of Spinocerebellar Ataxia Types 1, 2, and 3 by Triplet-Primed PCR and Melting Curve Analysis

Single-Step Scalable-Throughput Molecular Screening for Huntington Disease

Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management

Defining the performance parameters of a rapid screening tool for myotonic dystrophy type 1 based on triplet-primed PCR and melt curve analysis

Evaluation of three polygenic risk score models for the prediction of breast cancer risk in Singapore Chinese

Enhanced Detection and Sizing of the HTT CAG Repeat Expansion in Huntington Disease Using an Improved Triplet-Primed PCR Assay

Simplified strategy for rapid first-line screening of fragile X syndrome: closed-tube triplet-primed PCR and amplicon melt peak analysis

Screening for CGG Repeat Expansion in the FMR1 Gene by Melting Curve Analysis of Combined 5' and 3' Direct Triplet-Primed PCRs

Clinical application of targeted long read sequencing in prenatal beta‐thalassemia testing and genetic counseling

Efficient and Highly Sensitive Screen for Myotonic Dystrophy Type 1 Using a One-Step Triplet-Primed PCR and Melting Curve Assay

Single-tube methylation-specific duplex-PCR assay for rapid and accurate diagnosis of Fragile X Mental Retardation 1-related disorders

Methylation-specific triplet-primed PCR and melting curve analysis as a rapid screening tool for identifying actionable FMR1 genotypes

Elucidating the spectrum of alpha-thalassemia mutations in Iran

Detection and Discrimination between Deletional and Non-Deletional Prader-Willi and Angelman Syndromes by Methylation-Specific PCR and Quantitative Melting Curve Analysis

α-Thalassemia Mutation Analyses in Mazandaran Province, North Iran

α-Thalassemia Mutations in Gilan Province, North Iran

Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common α-thalassemia point mutations and deletions

α-Thalassemia Mutations in Khuzestan Province, Southwest Iran

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