Determination of SMN1/SMN2 Gene Dosage by a Quantitative Genotyping Platform Combining Capillary Electrophoresis and MALDI-TOF Mass Spectrometry

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

1999 • 1,418 citations

Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy

2002 • 955 citations

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2

1999 • 908 citations

Natural History in Proximal Spinal Muscular Atrophy

1995 • 521 citations

CLASSIFICATION OF SPINAL MUSCULAR ATROPHIES

1980 • 422 citations

High level multiplex genotyping by MALDI-TOF mass spectrometry

1998 • 416 citations

Treatment of spinal muscular atrophy by sodium butyrate

2001 • 406 citations

Quantitative Analysis of Survival Motor Neuron Copies: Identification of Subtle SMN1 Mutations in Patients with Spinal Muscular Atrophy, Genotype-Phenotype Correlation, and Implications for Genetic Counseling

1999 • 360 citations

From gels to chips: ?Minisequencing? primer extension for analysis of point mutations and single nucleotide polymorphisms

1999 • 335 citations

De Novo and Inherited Deletions of the 5q13 Region in Spinal Muscular Atrophies

1994 • 316 citations

When Is a Deletion Not a Deletion? When It Is Converted

1997 • 270 citations

Single-Nucleotide Polymorphism Identification Assays Using a Thermostable DNA Polymerase and Delayed Extraction MALDI-TOF Mass Spectrometry

1997 • 267 citations

Arrays of complementary oligonucleotides for analysing the hybridisation behaviour of nucleic acids

1994 • 229 citations

Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry in clinical chemistry

2003 • 224 citations

Spinal muscular atrophy: molecular genetics and diagnostics

2004 • 145 citations

Determination of SMN1 and SMN2 copy number using TaqMan™ technology

2003 • 119 citations

Quantitative Approach to Single-Nucleotide Polymorphism Analysis Using MALDI-TOF Mass Spectrometry

2000 • 110 citations

MALDI-TOF mass spectrometric typing of single nucleotide polymorphisms with mass-tagged ddNTPs

1998 • 79 citations

Hierarchical high-throughput SNP genotyping of the human Y chromosome using MALDI-TOF mass spectrometry

2002 • 68 citations

Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension

2000 • 64 citations

Duplications and de novo deletions of theSMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy

1999 • 62 citations

SMA carrier testing – validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion

2000 • 51 citations

Mass Spectrometry in DNA Analysis

1999 • 40 citations

Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying theSMN1gene

2002 • 33 citations

A standard protocol for single nucleotide primer extension in the human genome using matrix‐assisted laser desorption/ionization time‐of‐flight mass spectrometry

2003 • 25 citations

Four Common Mutations of the Cystathionine β-Synthase Gene Detected by Multiplex PCR and Matrix-assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry

1999 • 24 citations

Elimination of band compression in sequencing gels by the use of N⁴-methyl-2′-deoxycytidine 5′-triphosphate

1993 • 23 citations

Automated High-Throughput Mass Spectrometric Analysis of Synthetic Oligonucleotides

1998 • 22 citations

Parallel minisequencing followed by multiplex matrix-assisted laser desorption/ionization mass spectrometry assay for β-thalassemia mutations

2005 • 22 citations

DNA fragment analysis by an affordable multiple‐channel capillary electrophoresis system

2003 • 22 citations

Combine-ARMS: A Rapid and Cost-Effective Protocol for Molecular Characterization of β-Thalassemia in Malaysia

2001 • 17 citations

Heteroduplex Formation in SMN Gene Dosage Analysis

2001 • 15 citations

Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis

2004 • 11 citations