Ghent University Academic Bibliography

Your filters: cql: author="Rooney, Kathleen" or (type any "bookEditor issueEditor" and editor="Rooney, Kathleen")

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- Conference Paper
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 Z. Jacobs, Laurenz De Cock (UGent) , Erika D'haenens (UGent) , Zoë Malfait (UGent) , et al.

(2024)
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- Miscellaneous
Loss-of-function of the Zinc Finger Homeobox 4 (<i>ZFHX4</i>) gene underlies a neurodevelopmental disorder

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

(2024)
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- Journal Article
- A1
- open access
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

Elke Bogaert (UGent) , Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc (UGent) , Emma Van Reempts (UGent) , Frederic Tran Mau-Them, Ingrid M. Wentzensen, Kit Sing Au, et al.

(2023) AMERICAN JOURNAL OF HUMAN GENETICS. 110(5). p.790-808
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- Journal Article
- A1
- open access
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Reem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael Levy, Sadegheh Haghshenas, Kathleen Rooney, Jasmin Turner, Debbie Shears, Muriel Holder, et al.

(2022) GENETICS IN MEDICINE. 24(6). p.1261-1273

Academic Bibliography

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

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

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

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