Ghent University Academic Bibliography

Mark

journalArticle
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open access

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Kristof Van Schil (UGent) , Sarah Naessens (UGent) , Stijn Van De Sompele (UGent) , Marjolein Carron (UGent) , Alexander Aslanidis, Caroline Van Cauwenbergh (UGent) , Anja Kathrin Mayer, Mattias Van Heetvelde (UGent) , Miriam Bauwens (UGent) , Hannah Verdin (UGent) , et al.

(2018) GENETICS IN MEDICINE. 20(2). p.202-213

Mark

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

Ellen S Regalado, Lauren Mellor-Crummey, Julie De Backer (UGent) , Alan C Braverman, Lesley Ades, Susan Benedict, Timothy J Bradley, M Elizabeth Brickner, Kathryn C Chatfield, Anne Child, et al.

(2018) GENETICS IN MEDICINE.

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journalArticle
A1
open access

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, et al.

(2018) GENETICS IN MEDICINE. 20(9). p.965-975

Mark

journalArticle
open access

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, Amedeo A. Azizi, Donald G. Basel, Gary Bellus, et al.

(2018) Genetics in Medicine.

Mark

journalArticle

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Gregory Costain, Bert Callewaert (UGent) , Heinz Gabriel, Tiong Y. Tan, Susan Walker, John Christodoulou, Tamas Lazar, Björn Menten (UGent) , Julia Orkin, Simon Sadedin, et al.

(2018) Genetics in Medicine.

Mark

journalArticle
open access

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, Amedeo A. Azizi, Donald G. Basel, Gary Bellus, et al.

(2018) Genetics in Medicine.

Mark

journalArticle
open access

Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development

Dorien Baetens (UGent) , Tülay Güran, Berenice B Mendonca, Nathalia L Gomes, Lode De Cauwer (UGent) , Frank Peelman (UGent) , Hannah Verdin, Marnik Vuylsteke (UGent) , Malaïka Van Der Linden (UGent) , Zeynep Atay, et al.

(2018) Genetics in Medicine. 20(7). p.717-727

Mark

journalArticle
A1
open access

arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs

Caroline Van Cauwenbergh (UGent) , Kristof Van Schil (UGent) , Robrecht Cannoodt (UGent) , Miriam Bauwens (UGent) , Thalia Van Laethem (UGent) , Sarah De Jaegere (UGent) , Wouter Steyaert (UGent) , Tom Sante (UGent) , Björn Menten (UGent) , Bart Leroy (UGent) , et al.

(2017) GENETICS IN MEDICINE. 19(4). p.457-466

Mark

journalArticle
A1
open access

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

Dorien Baetens (UGent) , Hans Stoop, Frank Peelman (UGent) , Anne-Laure Todeschini, Toon Rosseel (UGent) , Frauke Coppieters (UGent) , Reiner Veitia, Leendert Looijenga, Elfride De Baere (UGent) and Martine Cools (UGent)

(2017) GENETICS IN MEDICINE. 19(4). p.367-376

Mark

journalArticle
A1
open access

Neuroimaging findings in Mowat-Wilson syndrome : a study of 54 patients

Livia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, Chiara Baldo, et al.

(2017) GENETICS IN MEDICINE. 19(6). p.691-700

Academic Bibliography

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development

arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

Neuroimaging findings in Mowat-Wilson syndrome : a study of 54 patients

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