Niels Tommerup

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The research focus of Tommerup Group is mapping of balanced chromosomal rearrangements (BCR) to identify and characterize novel disease and phenotype genes, regulatory domains (Topological Associating Domains (TADs)) of disease genes and novel genetic mechanisms. Characterization of germline chromothripsis and functional studies of non-coding RNA genes. Sex differential responses to Sars-Cov-2-, influenza- and RSV-infections.

Research Interests

Papers共 531 篇Author StatisticsCo-AuthorSimilar Experts

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Constitutional Copy Number Amplifications: Rare or Under-Evaluated? Revisiting a 25-Year-old Cold Case

Eliana Salvo, Romano Tenconi,Roberto Giorda, Sara Bertuzzo, Luca Cesana, Roberta Murru, Sabrina Giglio,Mana M Mehrjouy,Niels Tommerup,Orsetta Zuffardi,Maria Clara Bonaglia

European journal of human genetics EJHG (2025)

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

Vanessa Sodre de Souza,Halinna Dornelles Wawruk,Mana M. Mehrjouy,Mads Bak, Gabriela Corassa Rodrigues da Cunha, Ana Caroline Gabriel Goncalves,Mara Santos Cordoba,Niels Tommerup,Juliana F. Mazzeu

CLINICAL GENETICS (2025)

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Targeted Genetic Education in Dentistry in the Era of Genomics

Farah Asa'ad,Anne Norremolle,Qalbi Khan,Lena Larsson,Niels Tommerup,Nuno Vibe Hermann,Asli Silahtaroglu

GENES（2024）

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Apparently Benign Cryptic Complexity in an Affected Carrier of a De Novo Translocation

Constantia Aristidou, Maria Paraskevopoulou,Ludmila Kousoulidou,Athina Theodosiou,Mana M. Mehrjouy,Violetta Anastasiadou, Georgios Tanteles,Niels Tommerup,Carolina Sismani

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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Mesomelia-synostoses Syndrome: Contiguous Deletion Syndrome, SULF1 Haploinsufficiency or Enhancer Adoption

Ingrid Bendas Feres Lima, Lúcia de Fátima Marques de Moraes, Carlos Roberto da Fonseca,Juan Clinton Llerena Junior,Mana Mehrjouy,Niels Tommerup,Elenice Ferreira Bastos

Molecular Cytogeneticsno. 1 (2024)

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Central Role of Glycosylation Processes in Human Genetic Susceptibility to SARS-CoV-2 Infections with Omicron Variants

medRxiv the preprint server for health sciences (2024)

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A dicentric chromosome 2 due to a 19.7 Mb duplication in a child with normal development, microcephalus and growth retardation

Maria Therese Schelde,Maria Kibaek,Iben Bache,Niels Tommerup,Christina Fagerberg

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 275-275

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Balanced Chromosomal Rearrangements Offer Insights into Coding and Noncoding Genomic Features Associated with Developmental Disorders

Chelsea Lowther,Mana Mehrjouy,Ryan Collins,Mads Bak,Olga Dudchenko,Harrison Brand,Zirui Dong,Malene B. Rasmussen,Peter Jacky,Erez Lieberman Aiden,Iben Bache,Michael Talkowski,Niels Tommerup

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 4-4

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PRRT2 Benign Familial Infantile Seizures (BFIS) with Atypical Evolution to Encephalopathy Related to Status Epilepticus During Sleep (ESES)

Alberto Cossu, Joana L. Santos,Giulia Galati,Marina Nikanorova,Paola Costa,Yuan Mang,Asli Silahtaroglu,Guido Rubboli,Niels Tommerup,Bernardo Dalla Bernardina,Rikke S. Møller,Gaetano Cantalupo,Elena Gardella

NEUROLOGICAL SCIENCESno. 6 (2023): 2173-2176

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Papers共 531 篇Author StatisticsCo-AuthorSimilar Experts