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466 results on '"Kloosterman, Wigard P."'

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51. Distinct genomic profiles are associated with treatment response and survival in ovarian cancer

53. LPIN2 Is Associated With Type 2 Diabetes, Glucose Metabolism, and Body Composition

54. Mouse microRNA profiles determined with a new and sensitive cloning method

56. Multi-contact 4C: long-molecule sequencing of complex proximity ligation products to uncover local cooperative and competitive chromatin topologies

59. Confirmation of a metastasis-specific microRNA signature in primary colon cancer

60. Patient-derived ovarian cancer organoids mimic clinical response and exhibit heterogeneous inter- and intrapatient drug responses

61. Micronuclei-based model system reveals functional consequences of chromothripsis in human cells

62. Rapid identification of genomic structural variations with nanopore sequencing enables blood-based cancer monitoring

63. Author response: Micronuclei-based model system reveals functional consequences of chromothripsis in human cells

64. Partner-independent fusion gene detection by multiplexed CRISPR/Cas9 enrichment and long-read Nanopore sequencing

65. Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

68. Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck

69. Integrated clinical and omics approach to rare diseases : Novel genes and oligogenic inheritance in holoprosencephaly

70. Integrated clinical and omics approach to rare diseases: Novel genes and oligogenic inheritance in holoprosencephaly

71. Single-Molecule Sequencing: Towards Clinical Applications

72. Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

73. WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene

74. Locus-Specific Enhancer Hubs And Architectural Loop Collisions Uncovered From Single Allele DNA Topologies

77. Enhancer hubs and loop collisions identified from single-allele topologies

78. Confirmation of a metastasis-specific microRNA signature in primary colon cancer

80. Mapping and phasing of structural variation in patient genomes using nanopore sequencing

81. Locus-Specific Enhancer Hubs And Architectural Loop Collisions Uncovered From Single Allele DNA Topologies

82. A Systematic Analysis of Oncogenic Gene Fusions in Primary Colon Cancer

83. Abstract 490: Identification of oncogenic gene fusions in primary colon cancers

84. Mapping and phasing of structural variation in patient genomes using nanopore sequencing

85. Characteristics of de novo structural changes in the human genome

86. Mapping and phasing of structural variation in patient genomes using nanopore sequencing

87. Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells

88. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

89. Mapping and phasing of structural variation in patient genomes using nanopore sequencing

90. Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease

91. Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells

92. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

93. Genomic and Functional Overlap between Somatic and Germline Chromosomal Rearrangements

94. Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells

95. A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

96. A framework for the detection of de novo mutations in family-based sequencing data

97. Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

98. The presence of extra chromosomes leads to genomic instability

99. Metabolic Engineering toward Sustainable Production of Nylon-6

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