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Accumulation of miR-155 and BIC RNA in Human B Cell Lymphomas

Proceedings of the National Academy of Sciences - PNAS, 2005-03, Vol.102 (10), p.3627-3632

2005

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Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

Nature genetics, 2006-09, Vol.38 (9), p.1038-1042

2006

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A high-resolution map of segmental DNA copy number variation in the mouse genome

PLoS genetics, 2007-01, Vol.3 (1), p.e3-e3

2007

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Progressive multifocal leukoencephalopathy genetic risk variants for pharmacovigilance of immunosuppressant therapies

Frontiers in neurology, 2022-12, Vol.13, p.1016377

2022

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Loss-of-Function NUBPL Mutation May Link Parkinson's Disease to Recessive Complex I Deficiency

Frontiers in neurology, 2020-10, Vol.11, p.555961-555961

2020

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Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2

Nature genetics, 2007-09, Vol.39 (9), p.1071-1073

2007

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Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH

Genes chromosomes & cancer, 2005-11, Vol.44 (3), p.305-319

2005

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Characterization of a recurrent 15q24 microdeletion syndrome

Human molecular genetics, 2007-03, Vol.16 (5), p.567-572

2007

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Germline Genetic Risk Variants for Progressive Multifocal Leukoencephalopathy

Frontiers in neurology, 2020-03, Vol.11, p.186-186

2020

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Sensitive Detection of DNA Polymorphisms by the Serial Invasive Signal Amplification Reaction

Proceedings of the National Academy of Sciences - PNAS, 2000-07, Vol.97 (15), p.8272-8277

2000

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NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum

Journal of medical genetics, 2021-05, Vol.58 (5), p.314-325

2021

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A discovery resource of rare copy number variations in individuals with autism spectrum disorder

G3 : genes - genomes - genetics, 2012-12, Vol.2 (12), p.1665-1685

2012

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Acquired copy number alterations in adult acute myeloid leukemia genomes

Proceedings of the National Academy of Sciences - PNAS, 2009-08, Vol.106 (31), p.12950-12955

2009

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Comparative genomic hybridization solves a 14-year-old PARKIN mystery

Annals of neurology, 2015-10, Vol.78 (4), p.663-664

2015

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Genetic fine-mapping of the Iowan SNCA gene triplication in a patient with Parkinson’s disease

NPJ Parkinson's Disease, 2018-06, Vol.4 (1), p.18-7, Article 18

2018

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The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2016-04, Vol.171B (3), p.377-382

2016

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wuHMM: a robust algorithm to detect DNA copy number variation using long oligonucleotide microarray data

Nucleic acids research, 2008-04, Vol.36 (7), p.e41

2008

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Quantification of microRNAs, splicing isoforms, and homologous mRNAs with the invader assay

Methods in molecular biology (Clifton, N.J.), 2008, Vol.488, p.279

2008

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An invasive cleavage assay for direct quantitation of specific RNAs

Nature biotechnology, 2001-07, Vol.19 (7), p.673-676

2001

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Conformational distributions of a four-way DNA junction revealed by time-resolved fluorescence resonance energy transfer

Biochemistry (Easton), 1993-12, Vol.32 (50), p.13852-13860

1993

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Quantification of alternatively spliced FGFR2 RNAs using the RNA invasive cleavage assay

RNA (Cambridge), 2003-12, Vol.9 (12), p.1552-1561

2003

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Multiplexed Gene Expression Analysis Using the Invader RNA Assay with MALDI-TOF Mass Spectrometry Detection

Analytical chemistry (Washington), 2002-04, Vol.74 (8), p.1745-1750

2002

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High resolution solution structure of a DNA duplex alkylated by the antitumor agent duocarmycin SA

Journal of molecular biology, 1997-09, Vol.272 (2), p.237-252

1997

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Real time kinetics of restriction endonuclease cleavage monitored by fluorescence resonance energy transfer

Nucleic acids research, 1994-08, Vol.22 (15), p.3155-3159

1994

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Accumulation of miR-155 and BIC RNA in Human B Cell Lymphomas

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

A high-resolution map of segmental DNA copy number variation in the mouse genome

Progressive multifocal leukoencephalopathy genetic risk variants for pharmacovigilance of immunosuppressant therapies

Loss-of-Function NUBPL Mutation May Link Parkinson's Disease to Recessive Complex I Deficiency

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2

Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH

Characterization of a recurrent 15q24 microdeletion syndrome

Germline Genetic Risk Variants for Progressive Multifocal Leukoencephalopathy

Sensitive Detection of DNA Polymorphisms by the Serial Invasive Signal Amplification Reaction

NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum

A discovery resource of rare copy number variations in individuals with autism spectrum disorder

Acquired copy number alterations in adult acute myeloid leukemia genomes

Comparative genomic hybridization solves a 14-year-old PARKIN mystery

Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions

Genetic fine-mapping of the Iowan SNCA gene triplication in a patient with Parkinson’s disease

The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD

wuHMM: a robust algorithm to detect DNA copy number variation using long oligonucleotide microarray data

Quantification of microRNAs, splicing isoforms, and homologous mRNAs with the invader assay

An invasive cleavage assay for direct quantitation of specific RNAs

Conformational distributions of a four-way DNA junction revealed by time-resolved fluorescence resonance energy transfer

Quantification of alternatively spliced FGFR2 RNAs using the RNA invasive cleavage assay

Multiplexed Gene Expression Analysis Using the Invader RNA Assay with MALDI-TOF Mass Spectrometry Detection

High resolution solution structure of a DNA duplex alkylated by the antitumor agent duocarmycin SA

Real time kinetics of restriction endonuclease cleavage monitored by fluorescence resonance energy transfer

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