Magnus nordenskjöld ki
Objectives: Tumor cells release fragments of their DNA into the circulation, so called cell-free tumor DNA (ctDNA) or liquid biopsy. Here, we analyze if cell-free human papillomavirus DNA (ctHPV DNA) is detectable before, during and after treatment, in patients with cervical cancer or pre-malignant lesions that may develop into cervical cancer, and whether ctHPV DNA levels were correlated to. View record in Web of Science®.
Clinical cancer research : an official journal of the American Association for Cancer Research View record in Web of Science®. Liquid biopsy guides successful molecular targeted therapy of an inoperable pediatric brainstem neoplasm. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta. Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat STR disorders.
Journal of the neurological sciences View record in Web of Science®. Cancers View record in Web of Science®. PloS one e View record in Web of Science®. Circulating cell-free tumor human papillomavirus DNA is a promising biomarker in cervical cancer. Gynecologic oncology View record in Web of Science®. Frontiers in oncology View record in Web of Science®. An integrative proteomics method identifies a regulator of translation during stem cell maintenance and differentiation.
Nature communications View record in Web of Science®. Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients. Chromatin interactions in differentiating keratinocytes reveal novel atopic dermatitis- and psoriasis-associated genes. The Journal of allergy and clinical immunology View record in Web of Science®. Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in rare disease patients.
Genome medicine View record in Web of Science®. Severe congenital neutropenia-associated JAGN1 mutations unleash a calpain-dependent cell death programme in myeloid cells. British journal of haematology View record in Web of Science®. Diagnostic challenges for a novel SH2D1A mutation associated with X-linked lymphoproliferative disease. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Overexpression of chromatin remodeling and tyrosine kinase genes in iAMPpositive acute lymphoblastic leukemia.
Magnus Olsson
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission. Science advances eaax View record in Web of Science®. From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability. Gain-of-function mutation of microRNA in human skeletal dysplasia.
Nature medicine View record in Web of Science®. Haploinsufficiency of UNC13D increases the risk of lymphoma. Cancer View record in Web of Science®.
Magnus Nordenskjöld
Identification of putative pathogenic single nucleotide variants SNVs in genes associated with heart disease in cases of stillbirth. American journal of human genetics View record in Web of Science®. A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation. The Journal of allergy and clinical immunology Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.
Clinical genetics View record in Web of Science®. High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing. Frontiers in immunology 8: View record in Web of Science®. Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. Nature neuroscience View record in Web of Science®. Pediatric dermatology ee View record in Web of Science®.
Journal of genetic counseling View record in Web of Science®. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nature genetics View record in Web of Science®. Human mutation View record in Web of Science®.