Ghent University Academic Bibliography

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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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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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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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

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

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Journal Article
A1
open access

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Stijn Van de Sompele (UGent) , Kent W. Small, Münevver Burcu Cicekdal (UGent) , Victor Lopez Soriano (UGent) , Eva D'haene (UGent) , Fadi S. Shaya, Steven Agemy, Thijs Van der Snickt (UGent) , Alfredo Dueñas Rey (UGent) , Toon Rosseel (UGent) , et al.

(2022) AMERICAN JOURNAL OF HUMAN GENETICS. 109(11). p.2029-2048

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Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

Kiana Mohajeri, Rachita Yadav, Eva D'haene (UGent) , Philip M. Boone, Serkan Erdin, Dadi Gao, Mariana Moyses-Oliveira, Riya Bhavsar, Benjamin B. Currall, Kathryn O'Keefe, et al.

(2022) AMERICAN JOURNAL OF HUMAN GENETICS. 109(11). p.2049-2067

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Journal Article
A1
open access

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis

Christin S. Adamo, Aude Beyens (UGent) , Alvise Schiavinato, Douglas R. Keene, Sara F. Tufa, Matthias Morgelin, Jurgen Brinckmann, Takako Sasaki, Anja Niehoff, Maren Dreiner, et al.

(2022) AMERICAN JOURNAL OF HUMAN GENETICS. 109(12). p.2230-2252

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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome

Lore Pottie (UGent) , Christin S. Adamo, Aude Beyens (UGent) , Steffen Lütke, Piyanoot Tapaneeyaphan (UGent) , Adelbert De Clercq (UGent) , Phil L. Salmon, Riet De Rycke (UGent) , Alper Gezdirici, Elif Yilmaz Gulec, et al.

(2021) AMERICAN JOURNAL OF HUMAN GENETICS. 108(6). p.1095-1114

Academic Bibliography

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

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

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

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

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

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome

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