Ghent University Academic Bibliography

Journal Article
A1
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Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy

Miriam Bauwens (UGent) , Stephan Storch, Nicole Weisschuh, Chantal Ceuterick-de Groote, Riet De Rycke (UGent) , Brecht Guillemyn (UGent) , Sarah De Jaegere (UGent) , Frauke Coppieters (UGent) , Rudy Van Coster (UGent) , Bart Leroy (UGent) , et al.

(2020) CLINICAL GENETICS. 97(3). p.426-436

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Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility

Giulia Ascari (UGent) , Frank Peelman (UGent) , Pietro Farinelli, Toon Rosseel (UGent) , Nina Lambrechts (UGent) , Kirsten A. Wunderlich, Matias Wagner, Konstantinos Nikopoulos, Pernille Martens, Irina Balikova (UGent) , et al.

(2020) HUMAN MUTATION. 41(5). p.998-1011

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Ethical values supporting the disclosure of incidental and secondary findings in clinical genomic testing : a qualitative study

Marlies Saelaert (UGent) , Heidi Mertes (UGent) , Tania Moerenhout (UGent) , Elfride De Baere (UGent) and Ignaas Devisch (UGent)

(2020) BMC MEDICAL ETHICS. 21.

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GATA2 deficiency and haematopoietic stem cell transplantation : challenges for the clinical practitioner

Delfien Bogaert (UGent) , Genevieve Laureys (UGent) , Leslie Naesens (UGent) , Dominiek Mazure (UGent) , Marieke De Bruyne (UGent) , Amy P Hsu, Maria Bordon Cueto De Braem (UGent) , Erik Wouters, Simon Tavernier (UGent) , Bart Lambrecht (UGent) , et al.

(2020) BRITISH JOURNAL OF HAEMATOLOGY. 188(5). p.768-773

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Loss of function of RIMS2 causes a syndromic congenital cone-rod synaptic disease with neurodevelopmental and pancreatic involvement

Sabrina Mechaussier, Basamat Almoallem Mohammed (UGent) , Christina Zeitz, Kristof Van Schil (UGent) , Laila Jeddawi, Jo Van Dorpe (UGent) , Alfredo Dueñas Rey (UGent) , Christel Condroyer, Olivier Pelle, Michel Polak, et al.

(2020) AMERICAN JOURNAL OF HUMAN GENETICS. 106(6). p.859-871

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A1
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Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

Kezhi Yan, Justine Rousseau, Keren Machol, Laura A. Cross, Katherine E. Agre, Cynthia Forster Gibson, Anne Goverde, Kendra L. Engleman, Hannah Verdin (UGent) , Elfride De Baere (UGent) , et al.

(2020) SCIENCE ADVANCES. 6(4).

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CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA

Xuan-Thanh-An Nguyen, Mays Talib, Caroline Van Cauwenbergh (UGent) , Mary J. van Schooneveld, Marta Fiocco, Jan Wijnholds, Jacoline B. ten Brink, Ralph J. Florijn, Nicoline E. Schalij-Delfos, Gislin Dagnelie, et al.

(2020) Retina.

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Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in disease

Timothy J. Cherry, Marty G. Yang, David A. Harmin, Peter Tao, Andrew E. Timms, Miriam Bauwens (UGent) , Rando Allikmets, Evan M. Jones, Rui Chen, Elfride De Baere (UGent) , et al.

(2020) PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 117(16). p.9001-9012

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Three cases of molecularly confirmed Knobloch syndrome

Irina Balikova, Nuri Serdal Sanak, Depasse Fanny, Guillaume Smits, Julie Soblet, Elfride De Baere (UGent) and Monique Cordonnier

(2020) OPHTHALMIC GENETICS. 41(1).

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Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

Yolande van Bever, Hennie T Brüggenwirth, Katja P Wolffenbuttel, Arianne B Dessens, Irene A L Groenenberg, Maarten F C M Knapen, Elfride De Baere (UGent) , Martine Cools (UGent) , Conny M A van Ravenswaaij-Arts, Birgit Sikkema-Raddatz, et al.

(2020) Journal of Medical Genetics. p.jmedgenet-2019

Academic Bibliography

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility

Ethical values supporting the disclosure of incidental and secondary findings in clinical genomic testing : a qualitative study

GATA2 deficiency and haematopoietic stem cell transplantation : challenges for the clinical practitioner

Loss of function of RIMS2 causes a syndromic congenital cone-rod synaptic disease with neurodevelopmental and pancreatic involvement

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA

Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in disease

Three cases of molecularly confirmed Knobloch syndrome

Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

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