Niels Tommerup

University of Copenhagen — Denmark

Biochemistry, Genetics and Molecular Biology · Life Sciences

80h-index25.4kcitations468works0.22yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(127), Genetics and Neurodevelopmental Disorders(98), Chromosomal and Genetic Variations(56), Prenatal Screening and Diagnostics(51), Genomics and Rare Diseases(30)

Publications461 total

Central role of glycosylation processes in human genetic susceptibility to SARS-CoV-2 infections with Omicron variants
Nature Genetics·2026Open Access
A novel indel CYP1B1 variant in a large multigenerational Pakistani family expands the mutation spectrum of primary congenital glaucoma
Molecular Biology Reports·2025
Maternal smoking affects human fetal X-inactivation
Reproductive Toxicology·2025
Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case
European Journal of Human Genetics·2025Open Access
Balanced Translocation <scp>t(3;12)</scp> Disrupting <i>HMGA2</i> and <i>NAALADL2</i> Genes in Twins With Silver–Russell Syndrome and Intellectual Disability
Clinical Genetics·2025
Author response for "Balanced Translocation &lt;scp&gt;t(3;12)&lt;/scp&gt; Disrupting &lt;i&gt;HMGA2&lt;/i&gt; and &lt;i&gt;NAALADL2&lt;/i&gt; Genes in Twins With Silver–Russell Syndrome and Intellectual Disability"
2024
Central role of glycosylation processes in human genetic susceptibility to SARS-CoV-2 infections with Omicron variants
2024· 2 citedOpen Access
Targeted Genetic Education in Dentistry in the Era of Genomics
Genes·2024Open Access
Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?
Molecular Cytogenetics·2024Open Access
Clonal hematopoiesis and COVID‐19 hospitalization in Danish adults
HemaSphere·2024Open Access
PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES)
Neurological Sciences·2023· 6 cited
Disruption in SLCO5A1 gene by a balanced chromosomal translocation t(1;8)(p32.2;q13). Another evidence of the need for combined haploinsufficiency of genes SLCO5A1 and SULF1 genes as a cause of mesomelia-synostosis syndrome. Clinical and cytogenetic considerations.
Research Square (Research Square)·2022Open Access
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes
Nature Communications·2022· 45 citedOpen Access
Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients
Scientific Reports·2022· 7 citedOpen Access
13. Remember breakpoint two: Enhancer swapping, a frequent deleterious consequence of balanced chromosomal rearrangements
Cancer Genetics·2022
12. The landscape of structural variation discovery and interpretation across global populations and the developmental continuum
Cancer Genetics·2022
11. Structural variation discovery and interpretation in the era of cytogenomics
Cancer Genetics·2022
Does rapid sequence divergence preclude RNA structure conservation in vertebrates?
Nucleic Acids Research·2022· 4 citedOpen Access
Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families
Genes·2021· 4 citedOpen Access
Acute and persistent symptoms in non-hospitalized PCR-confirmed COVID-19 patients
Scientific Reports·2021· 192 citedOpen Access
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Frequent Co-authors

Mads Bak(8), Rikke S. Møller(8), Hans‐Hilger Ropers(6), Helle Hjalgrim(6), Zeynep Tümer(5), Vera M. Kalscheuer(5), Reinhard Ullmann(5), Søren Brunak(4), Kristian Helin(4), Asli Silahtaroglu(4), Corinna Menzel(4), Henrik Vissing(3), Juri Rappsilber(3), Peder Madsen(3), Søren K. Moestrup(3), Yuan Mang(3), Carla Marini(3), Sarah Weckhuysen(3), Renzo Guerrini(3), Heather C. Mefford(3)