Dimitri Hemelsoet

Journal Article
A1
open access

Exome sequencing and multigene panel testing in 1,411 patients with adult-onset neurologic disorders

Nika Schuermans (UGent) , Hannah Verdin (UGent) , Jody Ghijsels (UGent) , Madeleine Hellemans (UGent) , Elke Debackere (UGent) , Elke Bogaert (UGent) , Sofie Symoens (UGent) , Leslie Naesens (UGent) , Elien Lecomte, David Crosiers, et al.

(2023) NEUROLOGY-GENETICS. 9(3).

Add to list

Journal Article
A1
open access

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Anne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, et al.

(2023) GENETICS IN MEDICINE. 25(4).

Add to list

Journal Article
A1
open access

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

Elke Bogaert (UGent) , Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc (UGent) , Emma Van Reempts, Frederic Tran Mau-Them, Ingrid M. Wentzensen, Kit Sing Au, et al.

(2023) AMERICAN JOURNAL OF HUMAN GENETICS. 110(5). p.790-808

Add to list

Journal Article
A1
open access

Atypical clinical and novel radiological findings in Susac syndrome : experience from a large monocentric cohort

Cathérine Dekeyser (UGent) , Alexander Vanhoorne, Dimitri Hemelsoet (UGent) , Liesbeth Van Hijfte (UGent) , Julie De Zaeytijd (UGent) , Veroniek Van Driessche (UGent) , Helen Van Hoecke (UGent) , Marijke Miatton (UGent) , Tineke Van Vrekhem (UGent) , Leen Maes (UGent) , et al.

(2023) JOURNAL OF NEUROIMMUNOLOGY. 376.

Add to list

Identifying the source of the reward positivity : two patient studies involving cortical lesions and intracranial recording

Joyce Oerlemans (UGent) , Ricardo Alejandro Benavides (UGent) , Dimitri Hemelsoet (UGent) , Alfred Meurs (UGent) , Paul Boon (UGent) , Veerle De Herdt (UGent) and Clay Holroyd (UGent)

(2022) PSYCHOPHYSIOLOGY. In Psychophysiology 59(Supplement 1). p.S153-S153

Add to list

Ibrutinib-associated symptomatic intracerebral haemorrhage following IV thrombolysis for acute ischaemic stroke

Katrijn Madou, Sofie Carrette (UGent) , Marjan Acou (UGent) , Veerle De Herdt (UGent) and Dimitri Hemelsoet (UGent)

(2022) ACTA NEUROLOGICA BELGICA. 122(4). p.1111-1113

Add to list

Journal Article
A1
open access

Moyamoya disease emerging as an immune-related angiopathy

Caroline Asselman (UGent) , Dimitri Hemelsoet (UGent) , Denzel Eggermont (UGent) , Bart Dermaut (UGent) and Francis Impens (UGent)

(2022) TRENDS IN MOLECULAR MEDICINE. 28(11). p.939-950

Add to list

Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3

Nika Schuermans (UGent) , Salima El Chehadeh, Dimitri Hemelsoet (UGent) , Elke Bogaert (UGent) , Elke Debackere (UGent) , Pascale Hilbert, Nike Van Doninck, Marie-Caroline Taquet, Toon Rosseel (UGent) , Griet De Clercq (UGent) , et al.

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.80-80

Add to list

Journal Article
A1
open access

Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)

Nika Schuermans (UGent) , Dimitri Hemelsoet (UGent) , Wim Terryn, Sanne Steyaert (UGent) , Rudy Van Coster (UGent) , Paul Coucke (UGent) , Wouter Steyaert, Bert Callewaert (UGent) , Elke Bogaert (UGent) , Patrick Verloo (UGent) , et al.

(2022) ORPHANET JOURNAL OF RARE DISEASES. 17(1).

Add to list

Journal Article
A1
open access

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

Leslie Naesens (UGent) , Josephine Nemegeer (UGent) , Filip Roelens, Lore Vallaeys, Marije Meuwissen, Katrien Janssens, Patrick Verloo (UGent) , Benson Ogunjimi, Dimitri Hemelsoet (UGent) , Levi Hoste (UGent) , et al.

(2022) JOURNAL OF CLINICAL IMMUNOLOGY. 42(5). p.962-974

Academic Bibliography

Dimitri Hemelsoet

Exome sequencing and multigene panel testing in 1,411 patients with adult-onset neurologic disorders

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

Atypical clinical and novel radiological findings in Susac syndrome : experience from a large monocentric cohort

Identifying the source of the reward positivity : two patient studies involving cortical lesions and intracranial recording

Ibrutinib-associated symptomatic intracerebral haemorrhage following IV thrombolysis for acute ischaemic stroke

Moyamoya disease emerging as an immune-related angiopathy

Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3

Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)

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

Contents

Support

Contact