Niels Tommerup
Københavns Universitet
H-index: 82
Europe-Denmark
Top articles of Niels Tommerup
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Clonal hematopoiesis and COVID‐19 hospitalization in Danish adults | HemaSphere | Celia Burgos Sequeros Morten Tulstrup Sofie Bliddal Karina Meden Sørensen Ioanna Nissen | 2024/3 |
PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES) | Neurological Sciences | Alberto Cossu Joana L Santos Giulia Galati Marina Nikanorova Paola Costa | 2023/6 |
13. Remember breakpoint two: Enhancer swapping, a frequent deleterious consequence of balanced chromosomal rearrangements | Cancer Genetics | Niels Tommerup Michael E Talkowski | 2022/6/1 |
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 … | Ingrid Bendas Feres Lima Lúcia de Fátima Marques de Moraes Carlos Roberto da Fonseca Juan Juan Clinton Llerena Jr Niels Tommerup | 2022/11/22 | |
Does rapid sequence divergence preclude RNA structure conservation in vertebrates? | Nucleic acids research | Stefan E Seemann Aashiq H Mirza Claus H Bang-Berthelsen Christian Garde Mikkel Christensen-Dalsgaard | 2022/3/21 |
Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders | medRxiv | Chelsea Lowther Mana M Mehrjouy Ryan L Collins Mads C Bak Olga Dudchenko | 2022/2/16 |
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes | Nature Communications | Robert Schöpflin Uirá Souto Melo Hossein Moeinzadeh David Heller Verena Laupert | 2022/10/29 |
Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients | Scientific Reports | Nanna Dahl Rendtorff Helena Gásdal Karstensen Marianne Lodahl John Tolmie Catherine McWilliam | 2022/9/2 |
11. Structural variation discovery and interpretation in the era of cytogenomics | Cancer Genetics | Niels Tommerup Michael E Talkowski | 2022/6/1 |
A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review | Sanam Faryal Muhammad Farooq Uzma Abdullah Zafar Ali Saadia Maryam Saadi | 2021/7/1 | |
Acute and persistent symptoms in non-hospitalized PCR-confirmed COVID-19 patients | Scientific reports | Sofie Bliddal Karina Banasik Ole Birger Pedersen Janna Nissen Lisa Cantwell | 2021/6/23 |
51. Remember breakpoint two. Enhancer swapping, a frequent deleterious consequence of balanced chromosomal rearrangements | Cancer Genetics | Niels Tommerup | 2021/4/1 |
Rare pathogenic variants in genes implicated in glutamatergic neurotransmission pathway segregate with schizophrenia in Pakistani families | Genes | Ambrin Fatima Uzma Abdullah Muhammad Farooq Yuan Mang Mana M Mehrjouy | 2021/11/26 |
A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome | Blood cancer journal | Iben Bache Karin Wadt Mana M Mehrjouy Maria Rossing Olga Østrup | 2020/3/3 |
Chromothripsis and DNA repair disorders | Lusine Nazaryan-Petersen Victoria Alexandra Bjerregaard Finn Cilius Nielsen Niels Tommerup Zeynep Tümer | 2020/2/25 | |
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes | PLoS genetics | Anna Byrjalsen Thomas VO Hansen Ulrik K Stoltze Mana M Mehrjouy Nanna Moeller Barnkob | 2020/12/17 |
Paroxysmal Cranial Dyskinesia and Nail‐Patella Syndrome Caused by a Novel Variant in the LMX1B Gene | Movement Disorders | Sara Bech Annemette Løkkegaard Troels T Nielsen Anne Nørremølle Sabine Grønborg | 2020/12 |
RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis | Nature Communications | Muhammad Farooq Louise Lindbæk Nicolai Krogh Canan Doganli Cecilie Keller | 2020/11/16 |
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