Ghent University Academic Bibliography

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, 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

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, Alfredo Dueñas Rey (UGent) , Toon Rosseel (UGent) , et al.

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

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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

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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Miscellaneous

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (vol 108, pg 1095, 2021)

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

(2021) AMERICAN JOURNAL OF HUMAN GENETICS. 108(12). p.2386-2388

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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

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Miscellaneous

Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)

Tim Van Damme (UGent) , Thatjana Gardeitchik, Miski Mohamed, Sergio Guerrero-Castillo, Peter Freisinger, Brecht Guillemyn (UGent) , Ariana Kariminejad, Daisy Dalloyaux, Sanne van Kraaij, Dirk J. Lefeber, et al.

(2020) AMERICAN JOURNAL OF HUMAN GENETICS. 107(2). p.374-374

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Journal Article
A1
open access

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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De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism

Illja J Diets, Roos van der Donk, Kristina Baltrunaite, Esmé Waanders, Margot RF Reijnders, Alexander JM Dingemans, Rolph Pfundt, Anneke T Vulto-van Silfhout, Laurens Wiel, Christian Gilissen, et al.

(2019) AMERICAN JOURNAL OF HUMAN GENETICS. 104(4). p.758-766

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Homozygous null TBX4 mutations lead to posterior amelia with pelvic and pulmonary hypoplasia

Ariana Kariminejad, Emmanuelle Szenker-Ravi, Caroline Lekszas, Homa Tajsharghi, Ali-Reza Moslemi, Thomas Naert, Hong Tran Thi (UGent) , Fatemeh Ahangari, Minoo Rajaei, Mojila Nasseri, et al.

(2019) AMERICAN JOURNAL OF HUMAN GENETICS. 105(6). p.1294-1301

Academic Bibliography

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

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

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

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 (vol 108, pg 1095, 2021)

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

Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)

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

De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism

Homozygous null TBX4 mutations lead to posterior amelia with pelvic and pulmonary hypoplasia

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