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Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations.
Genes (Basel). 2021 Mar 31;12(4):510. doi: 10.3390/genes12040510.
Genes (Basel). 2021.
PMID: 33807164
Free PMC article.
Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures.
Pottie L, Van Gool W, Vanhooydonck M, Hanisch FG, Goeminne G, Rajkovic A, Coucke P, Sips P, Callewaert B.
Pottie L, et al. Among authors: vanhooydonck m.
PLoS Genet. 2021 Jun 18;17(6):e1009603. doi: 10.1371/journal.pgen.1009603. eCollection 2021 Jun.
PLoS Genet. 2021.
PMID: 34143769
Free PMC article.
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Application of an automated analysis framework for pulsed-wave Doppler cardiac ultrasound measurements to generate reference data in adult zebrafish.
Van Impe M, Caboor L, Deleeuw V, De Rycke K, Vanhooydonck M, De Backer J, Segers P, Sips P.
Van Impe M, et al. Among authors: vanhooydonck m.
Am J Physiol Regul Integr Comp Physiol. 2023 Dec 1;325(6):R782-R796. doi: 10.1152/ajpregu.00103.2023. Epub 2023 Oct 9.
Am J Physiol Regul Integr Comp Physiol. 2023.
PMID: 37811715
Free article.
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Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder.
María Del Rocío PB, Palomares Bralo M, Vanhooydonck M, Hamerlinck L, D'haene E, Leimbacher S, Jacobs EZ, De Cock L, D'haenens E, Dheedene A, Malfait Z, Vantomme L, Silva A, Rooney K, Santos-Simarro F, Lleuger-Pujol R, García-Miñaúr S, Losantos-García I, Menten B, Gestri G, Ragge N; ZFHX4 consortium; Sadikovic B, Bogaert E, Syx D, Callewaert B, Vergult S.
María Del Rocío PB, et al. Among authors: vanhooydonck m.
medRxiv [Preprint]. 2024 Aug 8:2024.08.07.24311381. doi: 10.1101/2024.08.07.24311381.
medRxiv. 2024.
PMID: 39148819
Free PMC article.
Preprint.
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