Research Explorer

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Onderzoeker

Sarah Delbaere

Prijzen & Erkenningen

30 Resultaten

2023

Inherited pathogenic variants in neurodevelopmental disorders : a potential pitfall in triobased analysis of clinical exomes

Annelies DheedeneErika D'haenensEvelien PouillieSarah DelbaereOlivier VanakkerBert CallewaertBjörn Menten

Valuable insights after one year whole exome sequencing in a fetal/prenatal setting

Sarah DelbaereMachteld BaetensCandy KumpsEllen RoetsNOORTJE VAN OOSTRUMBert CallewaertSandra JanssensOlivier VanakkerBjörn Menten

2022

Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes

Delfien SyxSarah DelbaereCatherine BuiAdelbert De ClercqGöran LarsonShuji MizumotoTomoki KoshoSylvie Fournel-GigleuxFransiska Malfait

A1 Artikel in een tijdschrift in AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

2020

Fishing for pathogenic mechanisms underlying rare Ehlers-Danlos syndrome subtypes

Sarah DelbaereFransiska MalfaitAndy Willaert

Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammeDelfien SyxSofie SymoensPaul CouckeAndy WillaertFransiska Malfait

A1 Artikel in een tijdschrift in MATRIX BIOLOGY

Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

Sarah DelbaereTibbe DhoogeDelfien SyxFlorence PetitNathalie GoemansAnne DestréeOlivier VanakkerRiet De RyckeSofie SymoensFransiska Malfait

A1 Artikel in een tijdschrift in GENETICS IN MEDICINE

b3galt6 Knock-out zebrafish recapitulate β3GalT6-deficiency disorders in human and reveal a trisaccharide proteoglycan linkage region

Sarah DelbaereAdelbert De ClercqShuji MizumotoFredrik NobornJan Willem BekLien AlluynCharlotte GistelinckDelfien SyxPhil L. SalmonPaul Coucke et al.

A1 Artikel in een tijdschrift in FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY

b3galt6 knock-out zebrafish recapitulate β3GalT6-deficiency disorders in human and reveal a trisaccharide proteoglycan linkage region

Sarah DelbaereAdelbert De ClercqShuji MizumotoFredrik NobornJan Willem BekLien AlluynCharlotte GistelinckDelfien SyxPhil L. SalmonPaul Coucke et al.

2019

Heterozygous defects in collagen XII cause myopathic Ehlers-Danlos syndrome and lead to variant-specific alterations in the extracellular matrix

Sarah DelbaereTibbe DhoogeDelfien SyxFlorence PetitNathalie GoemansAnne DestreeOlivier VanakkerRiet De RyckeSofie SymoensFransiska Malfait

Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a zebrafish model for spondylodysplastic Ehlers-Danlos syndrome, the B3GALT6 type

Sarah DelbaereAndy WillaertPhil L SalmonPaul CouckeFransiska Malfait

Myopathic Ehlers-Danlos syndrome : expanding the clinical and mutational spectrum with five new families

Tibbe DhoogeSarah DelbaereDelfien SyxSofie SymoensFransiska Malfait

Novel defects in collagen XII and VI expand the mixed Myopathy/Ehlers-Danlos syndrome spectrum

Tibbe DhoogeSarah DelbaereDelfien SyxSofie SymoensFransiska Malfait

Novel defects in collagen XII and VI expand the mixed Myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

Tibbe DhoogeSarah DelbaereDelfien SyxSofie SymoensFransiska Malfait

2018

Connecting muscle and matrix : clinical and molecular characterization of six new families with myopathic Ehlers-Danlos syndrome

Tibbe DhoogeSarah DelbaereDelfien SyxSofie SymoensFransiska Malfait

Connecting muscle and matrix in myopathic Ehlers-Danlos syndrome : clinical and molecular characterization of six new families

Sarah DelbaereTibbe DhoogeDelfien SyxSofie SymoensFransiska Malfait

Expanding the clinical and mutational spectrum of myopathic Ehlers-Danlos syndrome : five new families identified

Tibbe DhoogeSarah DelbaereDelfien SyxSofie SymoensFransiska Malfait

Fishing for the missing link : successful translation of a human disorder in zebrafish

Sarah DelbaereTim Van DammeDelfien SyxSofie SymoensAndy WillaertFransiska Malfait

Knockdown and knockout zebrafish models for the β4GalT7-deficient type of Ehlers-Danlos syndrome reveal distinctive and overlapping phenotypic features

Sarah DelbaereTim Van DammeDelfien SyxSofie SymoensAndy WillaertFransiska Malfait

Knockdown and knockout zebrafish models for the β4GalT7-deficient type of Ehlers-Danlos syndrome reveal distinctive and overlapping phenotypic features

Sarah DelbaereTim Van DammeDelfien SyxSofie SymoensAndy WillaertFransiska Malfait

Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a zebrafish model for spondylodysplastic Ehlers-Danlos syndrome, the B3GALT6 type

Sarah DelbaereAndy WillaertPhil L SalmonPaul CouckeFransiska Malfait

Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a zebrafish model for spondylodysplastic Ehlers-Danlos syndrome, the B3GALT6 type

Sarah DelbaereAndy WillaertPhil L SalmonPaul CouckeFransiska Malfait

Myopathic Ehlers-Danlos syndrome : expanding the clinical and mutational spectrum with five new families

Tibbe DhoogeSarah DelbaereDelfien SyxSofie SymoensFransiska Malfait

Zebrafish modeling for spondylodysplastic Ehlers-Danlos syndrome, the B4GALT7 type : mimicking the human hypomorphic phenotype in a validated knock-down model

Sarah DelbaereTim Van DammeDelfien SyxPaul CouckeAnne De PaepeSofie SymoensAndy WillaertFransiska Malfait

2017

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammePaul CouckeSofie SymoensDelfien SyxAndy WillaertFransiska Malfait

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammePaul CouckeSofie SymoensAndy WillaertFransiska Malfait

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammePaul CouckeSofie SymoensDelfien SyxAndy WillaertFransiska Malfait

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammePaul CouckeSofie SymoensDelfien SyxAndy WillaertFransiska Malfait

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammePaul CouckeSofie SymoensDelfien SyxAndy WillaertFransiska Malfait

2016

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammeAndy WillaertSofie SymoensPaul CouckeFransiska Malfait

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammeAndy WillaertSofie SymoensFransiska Malfait