prof. dr. Bart Dermaut

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder

Maria del Rocio Pérez Baca (UGent) , Maria Palomares Bralo, Michiel Vanhooydonck (UGent) , Lisa Hamerlinck (UGent) , Eva D'haene (UGent) , Sebastian Leimbacher (UGent) , Eva Jacobs, Laurenz De Cock (UGent) , Erika D'haenens (UGent) , Zoë Malfait (UGent) , et al.

(2024) American Society of Human Genetics, 2024 Annual meeting, Abstracts.

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Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene causes a novel neurodevelopmental disorder

Maria del Rocio Pérez Baca (UGent) , Maria Palomares, Michiel Vanhooydonck (UGent) , Eva D'haene (UGent) , Eva Z. Jacobs, Lies Vantomme (UGent) , Fernando Santos-Simarro, Roser Lleuger-Pujol, Sixto García-Miñaúr, Itsaso Losantos-García, et al.

(2024) 18th Troina Meeting on Genetics of Neurodevelopmental Disorders, Abstracts.

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Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene causes a novel neurodevelopmental disorder

Maria del Rocio Pérez Baca (UGent) , Maria Palomares, Michiel Vanhooydonck (UGent) , Eva D'haene (UGent) , Eva Jacobs, Lies Vantomme (UGent) , Fernando Santos-Simarro, Roser Lleuger-Pujol, Sixto García-Miñáur, Itsaso Losantos-García, et al.

(2024) Belgian Society for Human Genetics (BeSHG) Annual Symposium 2024 : Single Cells : to care or not to care, Abstracts.

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Journal Article
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open access

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

Maria del Rocio Pérez Baca (UGent) , Eva Jacobs, Lies Vantomme (UGent) , Pontus LeBlanc (UGent) , Elke Bogaert (UGent) , Annelies Dheedene (UGent) , Laurenz De Cock (UGent) , Sadegheh Haghshenas, Aidin Foroutan, Michael A Levy, et al.

(2024) AMERICAN JOURNAL OF HUMAN GENETICS. 111(3). p.509-528

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Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP)

Astrid Van den broecke, Alexander Decruyenaere (UGent) , Nika Schuermans (UGent) , Hannah Verdin (UGent) , Jody Ghijsels (UGent) , Anne Sieben, Bart Dermaut (UGent) and Dimitri Hemelsoet (UGent)

(2024) JOURNAL OF NEUROLOGY. 271. p.263-273

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Pathogenicity of mutation in MT-ND1 (m. 3796A>G) in a family with 'Leber Hereditary Optic Neuropathy Plus Phenotype'

Heleen Parmentier, Arnaud Vanlander (UGent) , S. Seneca, Hedwig Stepman (UGent) , Julie De Zaeytijd (UGent) , Bart Dermaut (UGent) and Dimitri Hemelsoet (UGent)

(2023) EUROPEAN JOURNAL OF NEUROLOGY. 30(S1). p.659-660

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From gastrointestinal enigma to genetic clarity : unraveling the MYH11 SM2 connection

Steven Callens (UGent) , Bart Dermaut (UGent) , Filomeen Haerynck (UGent) , Dimitri Hemelsoet (UGent) , Leslie Naessens, Bruce Poppe (UGent) , Sanne Steyaert (UGent) , Wim Terryn (UGent) , Arnaud Vanlander (UGent) , PATRICK VERLOO (UGent) , et al.

(2023) ACTA CLINICA BELGICA. In Acta Clinica Belgica 78(Supplement 1). p.11-12

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Phospholipid modifier PLAAT3 links defective PPARγ-dependent signaling to lipodystrophy

Bart Dermaut (UGent) and Nika Schuermans (UGent)

(2023) NATURE GENETICS. 55. p.1790-1791

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Journal Article
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open access

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, et al.

(2023) HUMAN GENOMICS. 17(1).

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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

Academic Bibliography

prof. dr. Bart Dermaut

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene causes a novel neurodevelopmental disorder

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene causes a novel neurodevelopmental disorder

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP)

Pathogenicity of mutation in MT-ND1 (m. 3796A>G) in a family with 'Leber Hereditary Optic Neuropathy Plus Phenotype'

From gastrointestinal enigma to genetic clarity : unraveling the MYH11 SM2 connection

Phospholipid modifier PLAAT3 links defective PPARγ-dependent signaling to lipodystrophy

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

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

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