Ghent University Academic Bibliography

Your filters: cql: author="Baets, Jonathan" or (type any "bookEditor issueEditor" and editor="Baets, Jonathan")

Add to list
- Journal Article
- A1
- open access
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, et al.

(2023) HUMAN GENOMICS. 17(1).
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
- Conference Paper
- C3
- open access
Belgian retrospective survey of hereditary transthyretin-mediated (hATTR) amyloidosis patients treated with patisiran in real-world practice

S Tilleux, Jan De Bleecker (UGent) , K Claeys, S Destanche, V Van Parys, Jonathan Baets and G Remiche

(2022) JOURNAL OF NEUROMUSCULAR DISEASES. In Journal of Neuromuscular Diseases 9(supplement 1). p.S273-S274
Add to list
- Conference Paper
- C3
- open access
A structural variant of the C-terminal prion-like domain of TDP-43 causes vacuolar muscle degeneration

Pedro Ervilha Pereira (UGent) , Nika Schuermans (UGent) , Antoon Meylemans, Pontus LeBlanc (UGent) , L Versluys, Elke Debackere (UGent) , Olivier Vanakker (UGent) , Sara Janssens, Jonathan Baets, K Verhoeven, et al.

(2022) JOURNAL OF NEUROMUSCULAR DISEASES. In Journal of Neuromuscular Diseases 9(supplement 1). p.S119-S119
Add to list
Safety, efficacy, and tolerability of efgartigimod in patients with generalised myasthenia gravis (ADAPT) : a multicentre, randomised, placebo-controlled, phase 3 trial

James F Howard, Vera Bril, Tuan Vu, Chafic Karam, Stojan Perk, Temur Margania, Hiroyuki Murai, Malgorzata Bilinska, Roman Shakarishvili, Marek Smilowski, et al.

(2021) LANCET NEUROLOGY. 20(7). p.526-536
Add to list
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Darius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, Miriam Wimmer, Angelica D'Amore, Kathrin Eberhardt, Barbara Brechmann, Marvin Ziegler, Dana M Jensen, Premsai Nagabhyrava, et al.

(2020) BRAIN. 143(10). p.2929-2944
Add to list
Exertional rhabdomyolysis : relevance of clinical and laboratory findings, and clues for investigation

Karel Heytens, Willem De Ridder, Jan De Bleecker (UGent) , Luc Heytens and Jonathan Baets

(2019) ANAESTHESIA AND INTENSIVE CARE. 47(2). p.128-133
Add to list
- Journal Article
- A1
- open access
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES

Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe (UGent) , Maud Beuvin, Rabah Ben Yaou, Cécile Masson, Anne Boland, Jean-François Deleuze, Thierry Maisonobe, et al.

(2019) NEUROLOGY-GENETICS. 5(2).
Add to list
- Journal Article
- A1
- open access
Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies

Claire G Salter, Danique Beijer, Holly Hardy, Katy ES Barwick, Matthew Bower, Ines Mademan, Peter De Jonghe, Tine Deconinck, Mark A Russell, Meriel M McEntagart, et al.

(2018) NEUROLOGY-GENETICS. 4(2).
Add to list
- Journal Article
- A1
- open access
No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

Yalda Baradaran-Heravi, Lubina Dillen, Hung Phuoc Nguyen, Sara Van Mossevelde, Jonathan Baets, Peter De Jonghe, Sebastiaan Engelborghs, Peter P De Deyn, Mathieu Vandenbulcke, Rik Vandenberghe, et al.

(2018) NEUROBIOLOGY OF AGING. 69.

Academic Bibliography

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

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

Belgian retrospective survey of hereditary transthyretin-mediated (hATTR) amyloidosis patients treated with patisiran in real-world practice

A structural variant of the C-terminal prion-like domain of TDP-43 causes vacuolar muscle degeneration

Safety, efficacy, and tolerability of efgartigimod in patients with generalised myasthenia gravis (ADAPT) : a multicentre, randomised, placebo-controlled, phase 3 trial

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Exertional rhabdomyolysis : relevance of clinical and laboratory findings, and clues for investigation

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

Contents

Support

Contact