Determination of SMN1 and SMN2 copy number using TaqMan™ technology

A simple salting out procedure for extracting DNA from human nucleated cells

1988 • 20,341 citations

THE USE OF CONFIDENCE OR FIDUCIAL LIMITS ILLUSTRATED IN THE CASE OF THE BINOMIAL

1934 • 4,169 citations

Identification and characterization of a spinal muscular atrophy-determining gene

1995 • 3,722 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

3'-Minor groove binder-DNA probes increase sequence specificity at PCR extension temperatures

2000 • 765 citations

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1

2002 • 708 citations

International SMA Consortium Meeting (26–28 June 1992, Bonn, Germany)

1992 • 618 citations

Identification of Proximal Spinal Muscular Atrophy Carriers and Patients by Analysis of SMNT and SMNC Gene Copy Number

1997 • 530 citations

Natural History in Proximal Spinal Muscular Atrophy

1995 • 521 citations

Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy.

1978 • 464 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

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

1997 • 270 citations

Structure and Organization of the Human Survival Motor Neurone (SMN) Gene

1996 • 245 citations

Best practice guidelines for molecular analysis in spinal muscular atrophy

2001 • 80 citations

Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR

2000 • 72 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

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

Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations

2002 • 37 citations

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

2002 • 33 citations

Reply to Ogino and Wilson

2002 • 3 citations