C. Jespersgaard

U. Vogel, O. Raaschou-Nielsen, M. Sørensen, 2009, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

Disease Concordance, Zygosity, and NOD2/CARD15 Status: Follow-Up of a Population-Based Cohort of Danish Twins with Inflammatory Bowel Disease

L. Hougs, P. Andersen, P. Munkholm, 2005, The American Journal of Gastroenterology.

Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature

Z. Tümer, R. Møller, J. Christodoulou, 2019, Clinical genetics.

University of Southern Denmark Clinician's guide to genes associated with Rett-like phenotypes Investigation of a Danish cohort and review of the literature

Z. Tümer, R. Møller, J. Christodoulou, 2017 .

Single-strand conformation polymorphism analysis using capillary array electrophoresis for large-scale mutation detection

L. Larsen, P. Andersen, C. Jespersgaard, 2007, Nature Protocols.

Detecting Blastocystis using parasitologic and DNA-based methods: a comparative study.

K. Mølbak, M. Arendrup, C. R. Stensvold, 2007, Diagnostic microbiology and infectious disease.

Identification and delineation of members of the Entamoeba complex by pyrosequencing.

G. von Samson-Himmelstjerna, C. R. Stensvold, M. Lebbad, 2010, Molecular and cellular probes.

Blastocystis: subtyping isolates using pyrosequencing technology.

G. von Samson-Himmelstjerna, C. R. Stensvold, H. Nielsen, 2007, Experimental parasitology.

Capillary electrophoresis‐based single strand DNA conformation analysis in high‐throughput mutation screening

J. Vuust, L. Larsen, M. Christiansen, 2003, Human mutation.

MT-CYB mutations in hypertrophic cardiomyopathy

O. Havndrup, H. Bundgaard, M. Christiansen, 2013, Molecular Genetics & Genomic Medicine.

MT-CYB mutations in hypertrophic cardiomyopathy

Jørgen K. Kanters, O. Havndrup, H. Bundgaard, 2013, Molecular genetics & genomic medicine.

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium

Z. Tümer, T. Rosenberg, K. Brøndum‐Nielsen, 2020, Investigative ophthalmology & visual science.

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

Z. Tümer, T. Rosenberg, Jianguo Zhang, 2019, Scientific Reports.

Determination of Beta-Defensin Genomic Copy Number in Different Populations: A Comparison of Three Methods

P. Andersen, R. Hardwick, M. Theisen, 2011, PloS one.

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

O. Mäkitie, Z. Tümer, N. Tommerup, 2018, PLoS genetics.

Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

M. Daly, H. Stefánsson, R. Ophoff, 2022, Translational Psychiatry.

Heterozygous mutations in GTP-cyclohydrolase-1 reduce BH4 biosynthesis but not pain sensitivity

G. Nachman, T. Jensen, L. Møller, 2018, Pain.

Genetic and environmental factors as predictors of disease severity and extent at time of diagnosis in an inception cohort of inflammatory bowel disease, Copenhagen County and City 2003-2005.

S. Larsen, P. Andersen, P. Munkholm, 2008, Journal of Crohn's & colitis.

Alpha-Defensin DEFA1A3 Gene Copy Number Elevation in Danish Crohn’s Disease Patients

B. Vainer, P. Andersen, O. Nielsen, 2011, Digestive Diseases and Sciences.

Whole genome amplification on DNA from filter paper blood spot samples: an evaluation of selected systems.

Karina Meden Sørensen, Paal Skytt Andersen, D. Hougaard, 2007, Genetic testing.

Genome‐wide peripheral blood leukocyte DNA methylation microarrays identified a single association with inflammatory bowel diseases

P. Munkholm, B. Melegh, A. Opekun, 2012, Inflammatory bowel diseases.

TS-EUROTRAIN: A European-Wide Investigation and Training Network on the Etiology and Pathophysiology of Gilles de la Tourette Syndrome

H. Stefánsson, P. Paschou, J. Glennon, 2016, Front. Neurosci..

The diagnostic efficiency of biomarkers in sporadic Creutzfeldt-Jakob disease compared to Alzheimer's disease

P. Johannsen, G. Waldemar, H. Høgenhaven, 2009, Neurobiology of Aging.

A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome – review of the literature

Z. Tümer, A. Bisgaard, C. Jespersgaard, 2017, Clinical genetics.

Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development

Z. Tümer, I. Damgaard, I. Bache, 2016, Molecular Cytogenetics.

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

T. Rosenberg, G. H. Bruun, B. Andresen, 2019, Scientific Reports.

High‐throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the method

J. Vuust, L. Larsen, M. Christiansen, 2003, Human mutation.

Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome

H. Stefánsson, B. Leventhal, W. McMahon, 2023, Biological Psychiatry.

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

Z. Tümer, J. Christodoulou, M. Larsen, 2018, Clinical genetics.

Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome.

Z. Tümer, K. Brøndum‐Nielsen, A. Bisgaard, 2015, Gene.

There Is No Association Between the Circadian Clock Gene HPER3 and Cognitive Dysfunction After Noncardiac Surgery

J. Rosenberg, C. Jespersgaard, I. Gøgenur, 2012, Anesthesia and analgesia.

Long QT syndrome in South Africa: the results of comprehensive genetic screening

M. Christiansen, P. Brink, V. Corfield, 2013, Cardiovascular journal of Africa.

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa

Z. Tümer, T. Rosenberg, K. Brøndum‐Nielsen, 2020, Genes.

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

T. Rosenberg, G. H. Bruun, B. Andresen, 2019, Scientific Reports.

Syddansk Universitet A pathogenic haplotype , common in Europeans , causes autosomal recessive albinism and uncovers missing heritability in OCA 1

T. Rosenberg, B. Andresen, K. Brøndum‐Nielsen, 2019 .

Apr 27, 2019 A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing

T. Rosenberg, B. Andresen, K. Brøndum‐Nielsen, 2019 .

Real-time TaqMan polymerase chain reaction-based genus-identification and pyrosequencing-based species identification of Campylobacter jejuni, C. coli, C. lari, C. upsaliensis, and C. fetus directly on stool samples.

S. Persson, K. Olsen, C. Jespersgaard, 2012, Diagnostic microbiology and infectious disease.

Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development

Z. Tümer, I. Damgaard, I. Bache, 2016, Molecular Cytogenetics.

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

T. Rosenberg, G. H. Bruun, B. Andresen, 2019, Scientific Reports.

Loss of GFAP cause retinal dysplasia and vision impairment

T. Rosenberg, L. Larsen, S. T. Christensen, 2022, medRxiv.

Genome‐wide peripheral blood leukocyte DNA methylation microarrays identified a single association with inflammatory bowel diseases

P. Munkholm, B. Melegh, A. Opekun, 2012, Inflammatory bowel diseases.

Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature

Z. Tümer, S. Lunke, A. Bisgaard, 2019, Clinical genetics.