Niels Tommerup

Frederiksberg, 1870, Denmark

Last Updated: 09/26/2026

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Found 96 publications

Systematic evaluation of the heterogeneity of topologically associating domain boundaries in a large genomic context in humans.

Systematic evaluation of the heterogeneity of topologically associating domain boundaries in a large genomic context in humans.

Journal: NAR genomics and bioinformatics

Published: March 15, 2026

Integrating heterogeneity into topologically associating domain boundary prediction in large genomic context in human.

Integrating heterogeneity into topologically associating domain boundary prediction in large genomic context in human.

Journal: NAR genomics and bioinformatics

Published: March 15, 2026

A novel indel CYP1B1 variant in a large multigenerational Pakistani family expands the mutation spectrum of primary congenital glaucoma.

A novel indel CYP1B1 variant in a large multigenerational Pakistani family expands the mutation spectrum of primary congenital glaucoma.

Journal: Molecular biology reports

Published: May 27, 2025

Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case.

Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case.

Journal: European journal of human genetics : EJHG

Published: March 11, 2025

Central role of glycosylation processes in human genetic susceptibility to SARS-CoV-2 infections with Omicron variants.

Central role of glycosylation processes in human genetic susceptibility to SARS-CoV-2 infections with Omicron variants.

Journal: medRxiv : the preprint server for health sciences

Published: November 28, 2024

Central role of glycosylation processes in human genetic susceptibility to SARS-CoV-2 infections with Omicron variants.

Central role of glycosylation processes in human genetic susceptibility to SARS-CoV-2 infections with Omicron variants.

Journal: Nature genetics

Published: November 20, 2024

Balanced Translocation t(3;12) Disrupting HMGA2 and NAALADL2 Genes in Twins With Silver-Russell Syndrome and Intellectual Disability.

Balanced Translocation t(3;12) Disrupting HMGA2 and NAALADL2 Genes in Twins With Silver-Russell Syndrome and Intellectual Disability.

Journal: Clinical genetics

Published: October 29, 2024

Targeted Genetic Education in Dentistry in the Era of Genomics.

Targeted Genetic Education in Dentistry in the Era of Genomics.

Journal: Genes

Published: October 23, 2024

Maternal smoking affects human fetal X-inactivation.

Maternal smoking affects human fetal X-inactivation.

Journal: Reproductive toxicology (Elmsford, N.Y.)

Published: July 22, 2024

Clonal hematopoiesis and COVID-19 hospitalization in Danish adults.

Clonal hematopoiesis and COVID-19 hospitalization in Danish adults.

Journal: HemaSphere

Published: November 28, 2023

PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES).

PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES).

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: January 16, 2023

Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?

Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?

Journal: Molecular cytogenetics

Published: November 18, 2022

Showing 1-12 of 96

Last Updated: 09/26/2026