Ghent University Academic Bibliography

Journal Article
A1
open access

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy

Karolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, Abigail R. Moye, Miriam Bauwens (UGent) , Siying Lin, Lucas Janeschitz-Kriegl, Tamar Hayman, Pilar Barberán-Martínez, Regina Schlaeger, et al.

(2025) AMERICAN JOURNAL OF HUMAN GENETICS. 112(4). p.808-828

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Journal Article
A1
open access

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

Pascale Sabeh, Samantha A. Dumas, Claudia Maios, Hiba Daghar, Marek Korzeniowski, Justine Rousseau, Matthew Lines, Andrea Guerin, John J. Millichap, Megan Landsverk, et al.

(2025) AMERICAN JOURNAL OF HUMAN GENETICS. 112(1). p.75-86

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Journal Article
A1
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RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)

Mathieu Quinodoz, Elifnaz Celik, Dhryata Kamdar, Francesca Cancellieri, Karolina Kaminska, Mukhtar Ullah, Pilar Barberán-Martínez, Manon Bouckaert (UGent) , Marta Cortón, Emma Delanote (UGent) , et al.

(2025) AMERICAN JOURNAL OF HUMAN GENETICS. 12(10). p.2253-2265

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Journal Article
A1
open access

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, 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 Jacobs, Laurenz De Cock, Erika D'haenens (UGent) , Annelies Dheedene (UGent) , et al.

(2025) AMERICAN JOURNAL OF HUMAN GENETICS. 112(6). p.1388-1414

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Journal Article
A1
open access

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma

Daniele Pepe, Xander Janssens, Kalina Timcheva, Grecia M. Marron-Linares, Benno Verbelen, Vasileios Konstantakos, Dylan De Groote, Jolien De Bie, Amber Verhasselt, Barbara Dewaele, et al.

(2025) AMERICAN JOURNAL OF HUMAN GENETICS. 112(6). p.1447-1467

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Journal Article
A1
open access

Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications

Sara Mansoorshahi, Anji T Yetman, Malenka M Bissell, Yuli Y Kim, Hector I Michelena, Julie De Backer (UGent) , Laura Muiño Mosquera (UGent) , Dawn S Hui, Anthony Caffarelli, Maria G Andreassi, et al.

(2024) AMERICAN JOURNAL OF HUMAN GENETICS. 111(10). p.2219-2231

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Journal Article
A1
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, Sadegheh Haghshenas, Aidin Foroutan, Michael A Levy, et al.

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

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Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction

Miriam Bauwens (UGent) , Elifnaz Celik, Dinah Zur, Siying Lin, Mathieu Quinodoz, Michel Michaelides, Andrew R Webster, Filip Van Den Broeck (UGent) , Bart Leroy (UGent) , Leah Rizel, et al.

(2024) AMERICAN JOURNAL OF HUMAN GENETICS. 111(2). p.393-402

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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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Personalized genetic counseling for Stargardt disease : offspring risk estimates based on variant severity

Stephanie Cornelis, Esmee H. Runhart, Miriam Bauwens (UGent) , Zelia Corradi, Elfride De Baere (UGent) , Susanne Roosing, Lonneke Haer-Wigman, Claire-Marie Dhaenens, Anneke T. Vulto-van Silfhout and Frans P.M. Cremers

(2022) AMERICAN JOURNAL OF HUMAN GENETICS. 109(3). p.498-507

Academic Bibliography

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma

Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications

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

Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction

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

Personalized genetic counseling for Stargardt disease : offspring risk estimates based on variant severity

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