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Institut für Klinische Molekularbiologie der Christian-Albrechts-Universität zu Kiel

Scientist

Britt-Sabina Löscher

Research Projects - Scientist

Inflammatory Bowel Disease (IBD) & Immunodeficiencies

Sanger sequencing

Sequencing

Whole Exome Sequencing & Custom Enrichment

Research Group

Genetics & Bioinformatics

Contact

+49 (0) 431 / 500 - 15 255

b.loescher [at] ikmb.uni-kiel.de

Research Interest

Main Publications

First known case of paediatric inflammatory bowel disease in a western lowland gorilla may be linked to a familial mutation in the MEFV gene.
PubMed (PMID: 31227591) | 2019 | Gut : journal of the British Society of Gastroenterology
Opportunities and challenges of whole-genome and -exome sequencing.
PubMed (PMID: 28193154) | 2017 | BMC genetics
Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.
PubMed (PMID: 28930861) | 2017 | Inflammatory bowel diseases
XIAP variants in male Crohn's disease.
PubMed (PMID: 24572142) | 2014 | Gut : journal of the British Society of Gastroenterology
Whole genome and exome sequencing of monozygotic twins discordant for Crohn's disease.
PubMed (PMID: 24996980) | 2014 | BMC genomics

Early Onset of TNFα-Driven Arthritis, Auto-inflammation, and Progressive Loss of Vision in a Patient with ALPK1 Mutation.
PubMed (PMID: 35235128) | 2022 | Journal of clinical immunology
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility.
PubMed (PMID: 36038634) | 2022 | Nature genetics
A heterozygous germline CD100 mutation in a family with primary sclerosing cholangitis.
PubMed (PMID: 33627483) | 2021 | Science Science translational medicine
Adult sucrase-isomaltase deficiency masquerading as IBS.
PubMed (PMID: 34615726) | 2021 | Gut : journal of the British Society of Gastroenterology
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
PubMed (PMID: 34645491) | 2021 | Genome medicine
Deficiency in X-linked inhibitor of apoptosis protein promotes susceptibility to microbial triggers of intestinal inflammation.
PubMed (PMID: 34739342) | 2021 | Science immunology
Genetic Variation in ABCC4 and CFTR and Acute Pancreatitis during Treatment of Pediatric Acute Lymphoblastic Leukemia.
PubMed (PMID: 34768335) | 2021 | Journal of clinical medicine
Current Developments of Clinical Sequencing and the Clinical Utility of Polygenic Risk Scores in Inflammatory Diseases.
PubMed (PMID: 33633722) | 2020 | Frontiers in immunology
Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.
PubMed (PMID: 32367296) | 2020 | Journal of neurology
Monocytes as Potential Mediators of Pathogen-Induced T-Helper 17 Differentiation in Patients With Primary Sclerosing Cholangitis (PSC).
PubMed (PMID: 33090557) | 2020 | Hepatology : official journal of the American Association for the Study of Liver Diseases
Monocytes as potential mediators of pathogen-induced Th17 differentiation in patients with primary sclerosing cholangitis (PSC).
PubMed (PMID: 31975436) | 2020 | Hepatology : official journal of the American Association for the Study of Liver Diseases
SETDB1 is required for intestinal epithelial differentiation and the prevention of intestinal inflammation.
PubMed (PMID: 32503845) | 2020 | Gut : journal of the British Society of Gastroenterology
Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
PubMed (PMID: 31145742) | 2019 | PLoS genetics / Public Library of Science
Identifying Crohn's disease signal from variome analysis.
PubMed (PMID: 31564248) | 2019 | Genome medicine
Leptin induces TNFα-dependent inflammation in acquired generalized lipodystrophy and combined Crohn's disease.
PubMed (PMID: 31822667) | 2019 | Nature communications
Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2.
PubMed (PMID: 30709874) | 2019 | Cold Spring Harbor molecular case studies
Compound heterozygous mutations in IL10RA combined with a complement factor properdin mutation in infantile-onset inflammatory bowel disease.
PubMed (PMID: 30199474) | 2018 | European journal of gastroenterology & hepatology
IKZF1plus Defines a New Minimal Residual Disease-Dependent Very-Poor Prognostic Profile in Pediatric B-Cell Precursor Acute Lymphoblastic Leukemia.
PubMed (PMID: 29498923) | 2018 | Journal of clinical oncology : official journal of the American Society of Clinical Oncology
IL-17A is functionally relevant and a potential therapeutic target in bullous pemphigoid.
PubMed (PMID: 30219389) | 2018 | Journal of autoimmunity
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
PubMed (PMID: 29795570) | 2018 | PLoS genetics / Public Library of Science
Whole-exome sequencing identifies rare genetic variations in German families with pulmonary sarcoidosis.
PubMed (PMID: 30054724) | 2018 | Human genetics
c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia.
PubMed (PMID: 29147684) | 2017 | Neurology. Genetics
Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway.
PubMed (PMID: 28422189) | 2017 | Scientific Reports
Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency.
PubMed (PMID: 29230214) | 2017 | Frontiers in immunology
Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen.
PubMed (PMID: 28566687) | 2017 | Scientific Reports
The TP53 Pro72Arg SNP in de novo acute myeloid leukaemia - results of two cohort studies involving 215 patients and 3759 controls.
PubMed (PMID: 28106906) | 2017 | British journal of haematology
Working towards precision medicine: predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.
PubMed (PMID: 28634997) | 2017 | Human mutation
A candidate gene approach of the calcineurin pathway to identify variants associated with clinical outcomes in renal transplantation.
PubMed (PMID: 26894651) | 2016 | Pharmacogenomics
Corrigendum: CEACAM1 regulates TIM-3-mediated tolerance and exhaustion.
PubMed (PMID: 26982724) | 2016 | Nature : a weekly illustrated journal of science
Genetic Factors of the Disease Course After Sepsis: Rare Deleterious Variants Are Predictive.
PubMed (PMID: 27639823) | 2016 | EBioMedicine
Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.
PubMed (PMID: 27782104) | 2016 | European journal of human genetics
Rare phenotypes in the understanding of autoimmunity.
PubMed (PMID: 27562064) | 2016 | Immunology and cell biology
Targeted resequencing and functional testing identifies low-frequency missense variants in the gene encoding GARP as significant contributors to atopic dermatitis risk.
PubMed (PMID: 27448748) | 2016 | Journal of investigative dermatology
Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C.
PubMed (PMID: 25994218) | 2015 | Gut : journal of the British Society of Gastroenterology
Exome Sequencing Analysis Reveals Variants in Primary Immunodeficiency Genes in Patients With Very Early Onset Inflammatory Bowel Disease.
PubMed (PMID: 26193622) | 2015 | Gastroenterology (New York, N.Y. 1943)
Genomics and drug profiling of fatal TCF3-HLF-positive acute lymphoblastic leukemia identifies recurrent mutation patterns and therapeutic options.
PubMed (PMID: 26214592) | 2015 | Nature genetics
Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease.
PubMed (PMID: 26310624) | 2015 | Human molecular genetics
Reduced sodium-proton exchanger NHE3 activity causes congenital sodium diarrhea.
PubMed (PMID: 26358773) | 2015 | Human molecular genetics
The genetics of Crohn's disease and ulcerative colitis - status quo and beyond.
PubMed (PMID: 25523552) | 2015 | Scandinavian journal of gastroenterology
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.
PubMed (PMID: 25329329) | 2014 | Nature medicine
CEACAM1 regulates TIM-3-mediated tolerance and exhaustion.
PubMed (PMID: 25363763) | 2014 | Nature : a weekly illustrated journal of science
Early-onset Crohn's disease and autoimmunity associated with a variant in CTLA-4.
PubMed (PMID: 25367873) | 2014 | Gut : journal of the British Society of Gastroenterology
New insights into the genetics of glioblastoma multiforme by familial exome sequencing.
PubMed (PMID: 25537509) | 2014 | Oncotarget
Reduced FOXP3(+) regulatory T cells in patients with primary sclerosing cholangitis are associated with IL2RA gene polymorphisms.
PubMed (PMID: 24412607) | 2014 | Journal of hepatology : the journal of the European Association for the Study of the Liver
Base-pair resolution DNA methylome of the EBV-positive Endemic Burkitt lymphoma cell line DAUDI determined by SOLiD bisulfite-sequencing.
PubMed (PMID: 23307032) | 2013 | Leukemia
From next-generation sequencing alignments to accurate comparison and validation of single-nucleotide variants: the pibase software.
PubMed (PMID: 22965131) | 2013 | Nucleic acids research
Improving mapping and SNP-calling performance in multiplexed targeted next-generation sequencing.
PubMed (PMID: 22913592) | 2012 | BMC genomics
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
PubMed (PMID: 22961002) | 2012 | Nature genetics
Microallopatry caused strong diversification in Buthus scorpions (Scorpiones: Buthidae) in the Atlas Mountains (NW Africa).
PubMed (PMID: 22383951) | 2012 | PloS one
Genetic variability, differentiation, and founder effect in golden jackals (Canis aureus) from Serbia as revealed by mitochondrial DNA and nuclear microsatellite loci.
PubMed (PMID: 19169806) | 2009 | Biochemical genetics

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