prof. dr. Arnaud Vanlander

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Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

Nika Schuermans (UGent) , Salima El Chehadeh, Dimitri Hemelsoet (UGent) , Jérémie Gautheron, Marie-Christine Vantyghem, Sonia Nouioua, Meriem Tazir, Corinne Vigouroux, Martine Auclair, Elke Bogaert (UGent) , et al.

(2023) NATURE GENETICS. 55(11). p.1929-1940

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Comparison of SARS-CoV-2 seroconversion in children with chronic diseases with healthy children and adults during the first waves of the COVID-19 pandemic

Levi Hoste (UGent) , Agnieszka Prytula-Ebels (UGent) , Jo Dehoorne (UGent) , Ruth De Bruyne (UGent) , Stephanie Van Biervliet (UGent) , Kathleen De Waele (UGent) , Evelyn Maes (UGent) , Victoria Bordon, Arnaud Vanlander (UGent) , Karlien Claes (UGent) , et al.

(2023) FRONTIERS IN PEDIATRICS. 11.

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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, et al.

(2023) MOLECULAR PSYCHIATRY. 28. p.668-697

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Neonatal lactic acidosis explained by LARS2 defect

Boel De Paepe (UGent) , Joél Smet (UGent) , Robert Kopajtich, Holger Prokisch, Rudy Van Coster (UGent) and Arnaud Vanlander (UGent)

(2023) PEDIATRIC RESEARCH. 93. p.740-743

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Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vincente A Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H Smith, Charlotte L Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, et al.

(2022) GENOME MEDICINE. 14(1).

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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).

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Familial hemophagocytic lymphohistiocytosis type 3 presenting as neonatal cholestasis and splenomegaly

Delfien Bogaert (UGent) , Ruth De Bruyne (UGent) , Arnaud Vanlander (UGent) , Lara Garabedian (UGent) , Yves Louis, Filomeen Haerynck (UGent) , Victoria Bordon and Barbara De Moerloose (UGent)

(2022) PEDIATRIC ALLERGY AND IMMUNOLOGY. 33(4).

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Clinical heterogeneity in MT-ATP6 pathogenic variants : same genotype—different onset

Sara Capiau, Joél Smet (UGent) , Boel De Paepe (UGent) , Yilmaz Yildiz, Mutluay Arslan, Olivier Stevens, Maxime Verschoore (UGent) , Hedwig Stepman (UGent) , Sara Seneca and Arnaud Vanlander (UGent)

(2022) CELLS. 11(3).

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Human germline nuclear transfer to overcome mitochondrial disease and failed fertilization after ICSI

Maoxing Tang, Annekatrien Boel (UGent) , Noemi Castelluccio (UGent) , Arantxa Cardona Barberán (UGent) , Antonia Christodoulaki (UGent) , Bieke Bekaert (UGent) , Mina Popovic, Frauke Vanden Meerschaut (UGent) , Petra De Sutter (UGent) , Björn Menten (UGent) , et al.

(2022) JOURNAL OF ASSISTED REPRODUCTION AND GENETICS. 39. p.609-618

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Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function

Karen Rosier, Molly T. McDevitt, Joél Smet (UGent) , Brendan J. Floyd, Maxime Verschoore (UGent) , Maria J. Marcaida, Craig A. Bingman, Irma Lemmens (UGent) , Matteo Dal Peraro, Jan Tavernier (UGent) , et al.

(2021) ISCIENCE. 24(12).

Academic Bibliography

prof. dr. Arnaud Vanlander

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

Comparison of SARS-CoV-2 seroconversion in children with chronic diseases with healthy children and adults during the first waves of the COVID-19 pandemic

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Neonatal lactic acidosis explained by LARS2 defect

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

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

Familial hemophagocytic lymphohistiocytosis type 3 presenting as neonatal cholestasis and splenomegaly

Clinical heterogeneity in MT-ATP6 pathogenic variants : same genotype—different onset

Human germline nuclear transfer to overcome mitochondrial disease and failed fertilization after ICSI

Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function

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