Onderzoeker
Dimitri Hemelsoet
- Disciplines:Palliatieve zorg en zorg rond het levenseinde, Laboratoriumgeneeskunde, Andere translationele wetenschappen, Regeneratieve geneeskunde, Verpleegkunde, Andere klinische wetenschappen, Andere basiswetenschappen, Andere paramedische wetenschappen, Andere gezondheidswetenschappen, Andere medische en gezondheidswetenschappen
Affiliaties
- Vakgroep Inwendige ziekten (Departement)
Lid
Vanaf1 sep 2004 → 30 sep 2014
Publicaties
1 - 10 van 76
- A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing(2023)
Auteurs: Nolwenn Jean-Marçais, Estrella López-Martín, Maria Antonietta Mencarelli, Sébastien Moutton, Rolph Pfundt, Hana Safraou, Christel Thauvin-Robinet, Julien Thevenon, Frédéric Tran Mau-Them, Bert B.A. de Vries, et al.
- Exome sequencing and multigene panel testing in 1,411 patients with adult-onset neurologic disorders(2023)
Auteurs: Nika Schuermans, Hannah Verdin, Jody Ghijsels, Madeleine Hellemans, Elke Debackere, Elke Bogaert, Sofie Symoens, Leslie Naesens, Elien Lecomte, David Crosiers, et al.
- Twist exome capture allows for lower average sequence coverage in clinical exome sequencing(2023)
Auteurs: Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, et al.
- SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability(2023)
Auteurs: Elke Bogaert, Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc, Emma Van Reempts, Frederic Tran Mau-Them, Ingrid M. Wentzensen, Kit Sing Au, et al.
Pagina's: 790 - 808 - Mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF, and result in Aicardi-Goutières syndrome with severe end-organ involvement(2022)
Auteurs: Leslie Naesens, Josephine Nemegeer, Filip Roelens, Lore Vallaeys, Marije Meuwissen, Katrien Janssens, PATRICK VERLOO, Benson Ogunjimi, Dimitri Hemelsoet, Levi Hoste, et al.
Pagina's: 962 - 974 - Clinical and subclinical findings in heterozygous ABCC6 carriers : results from a Belgian cohort and clinical practice guidelines(2022)
Auteurs: Lukas Nollet, Laurence Campens, Julie De Zaeytijd, Dimitri Hemelsoet, Olivier Vanakker
Pagina's: 496 - 504 - Moyamoya disease emerging as an immune-related angiopathy(2022)
Auteurs: Caroline Asselman, Dimitri Hemelsoet, Denzel Eggermont, Bart Dermaut, Francis Impens
Pagina's: 939 - 950 - Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3(2022)Volume: 30
Auteurs: Nika Schuermans, Salima El Chehadeh, Dimitri Hemelsoet, Elke Bogaert, Pascale Hilbert, Nike Van Doninck, Marie-Caroline Taquet, Toon Rosseel, Griet De Clercq, Carole Van Haverbeke, et al.
Pagina's: 80 - 80 - Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation(2021)
Auteurs: Antoon Meylemans, Katrien Hertegonne, Bart Dermaut, Dimitri Hemelsoet
Pagina's: 23 - 35 - Is monitoring of antiplatelet therapy by light transmission aggregometry dependent on instrument and reagent used?(2021)
Auteurs: Tinne Monteyne, Laura Heireman, Dimitri Hemelsoet, Ron H.N. Schaik
Pagina's: 786 - 794