Michael P. Kwint

发表

Next-generation genetic testing for retinitis pigmentosa

Christian Gilissen, Alexander Hoischen, Michael F. Buckley, 2012, Human mutation.

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation.

L. Vissers, A. Hoischen, J. Veltman, 2015, American journal of human genetics.

Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors.

I. Nagtegaal, M. Ligtenberg, M. Goossens, 2014, Gastroenterology.

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

Katherine R. Smith, A. Hoischen, E. Haan, 2015, Human molecular genetics.

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.

B. J. Klevering, J. Veltman, A. D. den Hollander, 2012, American journal of human genetics.

Genome sequencing identifies major causes of severe intellectual disability

L. Vissers, A. Hoischen, R. Pfundt, 2014, Nature.

Whole-Exome sequencing identifies a Type 2 Diabetes candidate mutation in PTPRF

A. Hoischen, C. Tack, E. Toonen, 2020, medRxiv.

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.

L. Vissers, H. Waterham, J. Christodoulou, 2018, American journal of human genetics.

Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors

A. Hoischen, J. Hehir-Kwa, J. Biegel, 2021, The Journal of pathology.

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.

A. Hoischen, N. Drouot, J. Veltman, 2010, American journal of human genetics.

Pyrosequencing of 16S rRNA gene amplicons to study the microbiota in the gastrointestinal tract of carp (Cyprinus carpio L.)

J. Veltman, G. Flik, B. Dutilh, 2011, AMB Express.

The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner

F. Cremers, C. Gilissen, S. Roosing, 2022, Cells.

Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome

A. Blanchard, M. Konrad, K. Neveling, 2022, Journal of the American Society of Nephrology : JASN.

Ultra-deep pyrosequencing of pmoA amplicons confirms the prevalence of Methylomonas and Methylocystis in Sphagnum mosses from a Dutch peat bog.

B. Dutilh, H. O. D. op den Camp, L. Bodrossy, 2011, Environmental microbiology reports.

Comprehensive de novo mutation discovery with HiFi long-read sequencing

L. Vissers, A. Hoischen, P. Baybayan, 2023, Genome Medicine.

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.

L. Vissers, R. Pfundt, N. de Leeuw, 2016, Genetics in medicine : official journal of the American College of Medical Genetics.

Long-read trio sequencing of individuals with unsolved intellectual disability

L. Vissers, A. Hoischen, P. Baybayan, 2020, European Journal of Human Genetics.

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

S. Scherer, L. Vissers, R. Pfundt, 2021, American journal of human genetics.

BRCA Testing by Single-Molecule Molecular Inversion Probes.

J. Shendure, A. Hoischen, J. Hehir-Kwa, 2017, Clinical chemistry.

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

L. Vissers, I. Krantz, R. Bodmer, 2020, American journal of human genetics.

RNA Sequencing Elucidates Drug-Specific Mechanisms of Antibiotic Tolerance and Resistance in Mycobacterium abscessus

H. Wertheim, H. O. D. op den Camp, K. Neveling, 2021, Antimicrobial agents and chemotherapy.

Identifying long indels in exome sequencing data of patients with intellectual disability

L. Vissers, R. Pfundt, J. Hehir-Kwa, 2018, bioRxiv.

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

L. Vissers, R. Pfundt, N. de Leeuw, 2016, Genetics in Medicine.

Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disability.

J. Veltman, C. Gilissen, S. Riazuddin, 2012, Archives of medical research.

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

L. Vissers, R. Pfundt, N. de Leeuw, 2022, European Journal of Human Genetics.

Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

R. Pfundt, B. D. de Vries, C. Gilissen, 2021, European Journal of Medical Genetics.

DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data

L. Vissers, M. V. van Gerven, C. Gilissen, 2021, bioRxiv.

Long-read technologies identify a hidden inverted duplication in a family with choroideremia

A. Hoischen, M. Nelen, F. Cremers, 2021, HGG advances.

Next Generation Genetic Testing for Retinitis Pigmentosa

B. J. Klevering, A. Hoischen, J. Veltman, 2013 .

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome

B. V. van Bon, J. Veltman, M. Verbeek, 2017, European Journal of Human Genetics.

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

Katherine R. Smith, A. Hoischen, E. Haan, 2015, Human molecular genetics.