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Publications by Katherine Rose
Rapid Exome Sequencing and Adjunct Rna Studies Confirm Pathogenicity of a Novel Homozygous Asns Splicing Variant in a Critically Ill Neonate
Pathology
Forensic Medicine
Pathology
Related publications
Whole‐exome Sequencing Identified a Novel Variant in an Iranian Patient Affected by Pycnodysostosis
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him With CHARGE Syndrome
Frontiers in Genetics
Genetics
Molecular Medicine
Exome Sequencing Identifies a Novel Missense Variant in RRM2B Associated With Autosomal Recessive Progressive External Ophthalmoplegia
Genome Biology
Indications and Outcomes of Rapid Turn Around Time Whole Exome Sequencing Studies
Pathology
Forensic Medicine
Pathology
Integrated Exome and RNA Sequencing of Dedifferentiated Liposarcoma
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Variant Detection Sensitivity and Biases in Whole Genome and Exome Sequencing
BMC Bioinformatics
Biochemistry
Applied Mathematics
Computer Science Applications
Structural Biology
Molecular Biology
Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay
Frontiers in Oncology
Cancer Research
Oncology
Exome Sequencing in a Consanguineous Family Clinically Diagnosed With Early-Onset Alzheimer's Disease Identifies a Homozygous CTSF Mutation
Neurobiology of Aging
Aging
Gerontology
Developmental Biology
Geriatrics
Neuroscience
Neurology
Whole-Exome Sequencing Reveals Novel USP9X Variant in Female Fetus With Isolated Agenesis of the Corpus Callosum
Clinical Case Reports
Medicine
