Multiplex Ligation-Dependent Probe Amplification Using a Completely Synthetic Probe Set

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

2002 • 2,637 citations

A Ligase-Mediated Gene Detection Technique

1988 • 834 citations

Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method.

2003 • 320 citations

Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis

2001 • 212 citations

Measurement of locus copy number by hybridisation with amplifiable probes

2000 • 210 citations

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.

1996 • 187 citations

Single nucleotide polymorphism seeking long term association with complex disease

2002 • 178 citations

Expression profiling via novel multiplex assay allows rapid assessment of gene regulation in defined signalling pathways

2003 • 165 citations

Sequence identity of then-1 product of a synthetic oligonucleotide

1995 • 94 citations

The influence of fluorescent dye structure on the electrophoretic mobility of end-labeled DNA

1998 • 64 citations

Making ends meet in genetic analysis using padlock probes

2002 • 54 citations

SNPWaveTM: a flexible multiplexed SNP genotyping technology

2004 • 48 citations

Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region

2002 • 32 citations

Evaluation of dual-labeled fluorescent DNA probe purity versus performance in real-time PCR

2004 • 32 citations

Synthesis of full-length oligonucleotides: cleavage of apurinic molecules on a novel support

1996 • 27 citations