Tim Van Damme

Conference Paper

Clinical impact of RNA-sequencing in diagnostics

Laurenz De Cock (UGent) , Erika D'haenens (UGent) , Sarah Vergult (UGent) , Lies Vantomme (UGent) , Annelies Dheedene (UGent) , Robin de Putter (UGent) , Tim Van Damme (UGent) , Jo Sourbron (UGent) , Bert Callewaert (UGent) , Olivier Vanakker (UGent) , et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. 32. p.European Soc Human Genetics-648

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Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations

Eva Vanbelleghem (UGent) , Tim Van Damme (UGent) , Aude Beyens (UGent) , Sofie Symoens (UGent) , Kathleen Claes (UGent) , Julie De Backer (UGent) , Ilse Meerschaut, Floris Vanommeslaeghe (UGent) , Sigurd Delanghe (UGent) , Jenneke van den Ende, et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. 32(9). p.1086-1094

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Shunt nephritis : a case of mistaken identity

Tim Van Damme (UGent) , Nic Veys (UGent) , Marijn Speeckaert (UGent) and Sigurd E. Delanghe

(2023) ACTA CLINICA BELGICA. 78(3). p.248-253

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Journal Article
A2
open access

Glycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6‐deficient spondylodysplastic Ehlers–Danlos syndrome

Mahnaz Nikpour, Fredrik Noborn, Jonas Nilsson, Tim Van Damme (UGent) , Olivier Kaye, Delfien Syx (UGent) , Fransiska Malfait (UGent) and Göran Larson

(2022) JIMD REPORTS. 63(5). p.462-467

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Journal Article
A1
open access

The Ehlers–Danlos syndromes against the backdrop of inborn errors of metabolism

Tim Van Damme (UGent) , Marlies Colman (UGent) , Delfien Syx (UGent) and Fransiska Malfait (UGent)

(2022) GENES. 13(2).

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More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

Tibbe Dhooge, Tim Van Damme (UGent) , Delfien Syx (UGent) , Laura Muiño Mosquera (UGent) , Sheela Nampoothiri, Anil Radhakrishnan, Pelin O. Simsek-Kiper, Gulen E. Utine, Maryse Bonduelle, Isabelle Migeotte, et al.

(2021) HUMAN MUTATION. 42(6). p.711-730

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Journal Article
A1
open access

Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta

Delfien Syx (UGent) , Yoshihiro Ishikawa, Jan Gebauer, Sergei P. Boudko, Brecht Guillemyn (UGent) , Tim Van Damme (UGent) , Sanne D'hondt (UGent) , Sofie Symoens (UGent) , Sheela Nampoothiri, Douglas B. Gould, et al.

(2021) PLOS GENETICS. 17(2).

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Miscellaneous

Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)

Tim Van Damme (UGent) , Thatjana Gardeitchik, Miski Mohamed, Sergio Guerrero-Castillo, Peter Freisinger, Brecht Guillemyn (UGent) , Ariana Kariminejad, Daisy Dalloyaux, Sanne van Kraaij, Dirk J. Lefeber, et al.

(2020) AMERICAN JOURNAL OF HUMAN GENETICS. 107(2). p.374-374

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Miscellaneous

More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

Tibbe Dhooge, Tim Van Damme (UGent) , Delfien Syx (UGent) , Laura Muiño Mosquera, Sheela Nampoothiri, Anil Radhakrishnan, Pelin Simsek-Kiper, Gülen Eda Utine, Maryse Bonduelle, Isabelle Migeotte, et al.

(2020) Authorea.

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More than meets the eye in Brittle Cornea Syndrome : genotype-phenotype studies on novel and reported pathogenic variants in ZNF469 and PRDM5

Tibbe Dhooge, Tim Van Damme (UGent) , Delfien Syx (UGent) , Sofie Symoens (UGent) and Fransiska Malfait (UGent)

(2020) Belgian Society for Human Genetics, 20th Annual meeting, Abstracts.

Academic Bibliography

Tim Van Damme

Clinical impact of RNA-sequencing in diagnostics

Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations

Shunt nephritis : a case of mistaken identity

Glycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6‐deficient spondylodysplastic Ehlers–Danlos syndrome

The Ehlers–Danlos syndromes against the backdrop of inborn errors of metabolism

More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta

Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)

More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

More than meets the eye in Brittle Cornea Syndrome : genotype-phenotype studies on novel and reported pathogenic variants in ZNF469 and PRDM5

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