Ghent University Academic Bibliography

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Your filters: cql: author="Synofzik, M*" or (type exact bookEditor and editor="Synofzik, M*")

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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).
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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).
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Recommendations for whole genome sequencing in diagnostics for rare diseases

Erika Souche, Sergi Beltran, Erwin Brosens, John W. Belmont, Magdalena Fossum, Olaf Riess, Christian Gilissen, Amin Ardeshirdavani, Gunnar Houge, Marielle van Gijn, et al.

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. 30. p.1017-1021
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Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

G Coarelli, R Schule, BPC van de Warrenburg, P De Jonghe, C Ewenczyk, A Martinuzzi, M Synofzik, EG Hamer, J Baets, M Anheim, et al.

(2019) NEUROLOGY. 92(23). p.e2679-e2690
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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.
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Beyond ALS and FTD : the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes

Carlo Wilke, Jonathan Baets, Jan De Bleecker (UGent) , Tine Deconinck, Saskia Biskup, Stefanie N Hayer, Stephan Züchner, Rebecca Schüle, Peter De Jonghe and Matthis Synofzik

(2017) NEUROBIOLOGY OF AGING. 62. p.244.e9-244.e13
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Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

Alejandro Estrada-Cuzcano, Shaun Martin, Teodora Chamova, Matthis Synofzik, Dagmar Timmann, Tine Holemans, Albena Andreeva, Jennifer Reichbauer, Riet De Rycke (UGent) , Dae-In Chang, et al.

(2017) BRAIN. 140. p.287-305
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TBK1 mutation spectrum in an extended European patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis

Julie van der Zee, Ilse Gijselinck, Sara Van Mossevelde, Federica Perrone, Lubina Dillen, Bavo Heeman, Veerle Bäumer, Sebastiaan Engelborghs, Jan De Bleecker (UGent) , Jonathan Baets, et al.

(2017) HUMAN MUTATION. 38(3). p.297-309
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Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

Julie van der Zee, Tim Van Langenhove (UGent) , Gabor G Kovacs, Lubina Dillen, William Deschamps, Sebastiaan Engelborghs, Radoslav Matěj, Mathieu Vandenbulcke, Anne Sieben (UGent) , Bart Dermaut (UGent) , et al.

(2014) ACTA NEUROPATHOLOGICA. 128(3). p.397-410
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A pan-European study of the C9orf72 repeat associated with FTLD : geographic prevalence, genomic instability, and intermediate repeats

Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove (UGent) , Jessie Theuns, Sebastiaan Engelborghs, Stéphanie Philtjens, Mathieu Vandenbulcke, Kristel Sleegers, Anne Sieben (UGent) , et al.

(2013) HUMAN MUTATION. 34(2). p.363-373

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

Recommendations for whole genome sequencing in diagnostics for rare diseases

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

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

Beyond ALS and FTD : the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

TBK1 mutation spectrum in an extended European patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

A pan-European study of the C9orf72 repeat associated with FTLD : geographic prevalence, genomic instability, and intermediate repeats

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