Ghent University Academic Bibliography

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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.

(2019) GENETICS IN MEDICINE.
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- journalArticle
- A1
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Riccardo Sangermano, Alejandro Garanto, Mubeen Khan, Esmee H Runhart, Miriam Bauwens (UGent) , Nathalie M Bax, L Ingeborgh van den Born, Muhammad Imran Khan, Stéphanie S Cornelis, Joke BGM Verheij, et al.

(2019) GENETICS IN MEDICINE.
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- journalArticle
- A1
- 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.

(2019) GENETICS IN MEDICINE.
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- journalArticle
- A1
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Miriam Bauwens (UGent) , Alejandro Garanto, Riccardo Sangermano, Sarah Naessens (UGent) , Nicole Weisschuh, Julie De Zaeytijd (UGent) , Mubeen Khan, Françoise Sadler, Irina Balikova (UGent) , Caroline Van Cauwenbergh (UGent) , et al.

(2019) GENETICS IN MEDICINE.
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- journalArticle
- A1
- 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
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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. 20(10). p.1206-1215
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Arterial tortuosity syndrome : 40 new families and literature review

Aude Beyens (UGent) , Juliette Albuisson, Annekatrien Boel (UGent) , Mazen Al-Essa, Waheed Al-Manea, Damien Bonnet, Ozlem Bostan, Odile Boute, Tiffany Busa, Nathalie Canham, et al.

(2018) GENETICS IN MEDICINE. 20(10). p.1236-1245
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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
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- journalArticle
- A1
- 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 (UGent) , Marnik Vuylsteke (UGent) , Malaïka Van Der Linden (UGent) , Hans Stoop, et al.

(2018) GENETICS IN MEDICINE. 20(7). p.717-727
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- 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

Academic Bibliography

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

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

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

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

Arterial tortuosity syndrome : 40 new families and literature review

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

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

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