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List of works by Martin J Larsen

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

scientific article published on 5 December 2017

Acute hypoxia induces upregulation of microRNA-210 expression in glioblastoma spheroids

scientific article

Association of miR-548c-5p, miR-7-5p, miR-210-3p, miR-128-3p with recurrence in systemically untreated breast cancer.

scientific article

Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1).

scientific article

Clinical and molecular characterization of BRCA-associated breast cancer: results from the DBCG.

scientific article published on 22 November 2017

Clinical relevance of sensitive and quantitative STAT3 mutation analysis using next-generation sequencing in T-cell large granular lymphocytic leukemia.

scientific article

Clonal expansion and linear genome evolution through breast cancer progression from pre-invasive stages to asynchronous metastasis

scientific article published on March 2015

Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia.

scientific article

DamX Controls Reversible Cell Morphology Switching in Uropathogenic Escherichia coli

scientific article published on 02 August 2016

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.

scientific article published in December 2017

Differential long noncoding RNA profiling of BMI in twins

scientific article published on 09 September 2020

Epigenetic signature of preterm birth in adult twins.

scientific article published on 27 June 2018

Evaluation of Nine Somatic Variant Callers for Detection of Somatic Mutations in Exome and Targeted Deep Sequencing Data

scientific article

Exome sequencing revealed DNA variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as potential novel causes of ketotic hypoglycemia in children

scientific article published on 07 February 2020

Genomic Analyses of Breast Cancer Progression Reveal Distinct Routes of Metastasis Emergence.

scientific article

Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps.

scientific article published on 5 May 2016

Global Gene Expression Profiling and Transcription Factor Network Analysis of Cognitive Aging in Monozygotic Twins

scientific article published on 14 June 2021

Global expression profiling of cognitive level and decline in middle-aged monozygotic twins

scientific article published on 26 August 2019

Global gene expression profiling of telangiectasial tissue from patients with hereditary hemorrhagic telangiectasia

scientific article published on 16 April 2015

Hereditary breast cancer: clinical, pathological and molecular characteristics

scientific article

Identification of metastasis driver genes by massive parallel sequencing of successive steps of breast cancer progression

scientific article published on 2 January 2018

Immunodeficiency associated with a nonsense mutation of IKBKB.

scientific article published on 14 September 2014

Is MED13L-related intellectual disability a recognizable syndrome?

scientific article published on 27 June 2018

Leucocytes Mutation load Declines with Age in Carriers of the m.3243A>G Mutation. A 10-year Prospective Cohort.

scientific article published on 20 December 2017

Long non-coding RNA HOTAIR is an independent prognostic marker of metastasis in estrogen receptor-positive primary breast cancer

scientific article published on 21 November 2013

Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia

scientific article

Long non-coding RNA expression profiles predict metastasis in lymph node-negative breast cancer independently of traditional prognostic markers

scientific article published on 11 April 2015

Microarray-based RNA profiling of breast cancer: batch effect removal improves cross-platform consistency.

scientific article

Molecular Concordance Between Primary Breast Cancer and Matched Metastases.

scientific article published on 18 April 2016

Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65).

scientific article published on 14 July 2015

RNA profiling reveals familial aggregation of molecular subtypes in non-BRCA1/2 breast cancer families

scientific article published on 31 January 2014

Use of next generation sequencing in head and neck squamous cell carcinomas: a review.

scientific article published on 13 September 2014

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