Tim Van Damme

Miscellaneous

Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations ( vol 32, pg 1086, 2024)

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.

(2026) EUROPEAN JOURNAL OF HUMAN GENETICS.

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RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease

Maxim Verlee (UGent) , Erika D'haenens (UGent) , Laurenz De Cock, Laura Muiño Mosquera (UGent) , Katya De Groote (UGent) , Kristof Vandekerckhove (UGent) , Joseph Panzer (UGent) , Ellen Roets (UGent) , Björn Menten (UGent) , Sofie Symoens (UGent) , et al.

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. 33(8). p.1085-1089

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Cracking rare disorders : a new minimally invasive RNA-seq protocol

Laurenz De Cock, Erika D'haenens (UGent) , Lies Vantomme (UGent) , Lynn Backers, Aude Beyens (UGent) , Kathleen Claes (UGent) , Griet De Clercq (UGent) , Robin de Putter (UGent) , Candy Kumps (UGent) , Nika Schuermans (UGent) , et al.

(2025) NPJ GENOMIC MEDICINE. 10(1).

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Miscellaneous
open access

De novo CUL3 variant in a child presenting with hypertension and kidney failure

Lieselot Peremans (UGent) , Amélie Dendooven (UGent) , Erika D'haenens (UGent) , Sofie Symoens (UGent) , Bert Callewaert (UGent) , Laurenz Decock, Lies Vantomme (UGent) , Sarah Vergult (UGent) , Jo Dehoorne (UGent) , Lien Dossche (UGent) , et al.

(2025) KIDNEY INTERNATIONAL REPORTS. 10(7). p.2484-2487

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Clinical impact of RNA-sequencing in diagnostics

Laurenz De Cock, 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. In European Journal of Human Genetics 32(Supplement 1). p.648-648

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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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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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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

Academic Bibliography

Tim Van Damme

Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations ( vol 32, pg 1086, 2024)

RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease

Cracking rare disorders : a new minimally invasive RNA-seq protocol

De novo CUL3 variant in a child presenting with hypertension and kidney failure

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

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