Ghent University Academic Bibliography

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The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond

Sarah Naessens (UGent) , Julie De Zaeytijd (UGent) , Delfien Syx (UGent) , Roosmarijn Vandenbroucke (UGent) , Frédéric Smeets, Caroline Van Cauwenbergh (UGent) , Bart Leroy (UGent) , Frank Peelman (UGent) and Frauke Coppieters (UGent)

(2019) HUMAN MUTATION.

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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Timothy R Rebbeck, Tara M Friebel, Eitan Friedman, Ute Hamann, Dezheng Huo, Ava Kwong, Edith Olah, Olufunmilayo I. Olopade, Angela R Solano, Soo-Hwang Teo, et al.

(2018) HUMAN MUTATION. 39(5). p.593-620

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LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV

Przemyslaw Szafranski, Ewelina Kośmider, Qian Liu, Justyna A Karolak, Lauren Currie, Sandhya Parkash, Stephen G Kahler, Elizabeth Roeder, Rebecca O Littlejohn, Thomas S DeNapoli, et al.

(2018) HUMAN MUTATION. 39(12). p.1916-1925

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journalArticle
A1
open access

BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

Leslie J Burke, Jan Sevcik, Gaetana Gambino, Emma Tudini, Eliseos J Mucaki, Ben C Shirley, Phillip Whiley, Michael T Parsons, Kim De Leeneer (UGent) , Sara Gutiérrez-Enríquez, et al.

(2018) HUMAN MUTATION. 39(12). p.2025-2039

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Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11

Annelot Baert (UGent) , Eva Machackova, Ilse Coene (UGent) , Carol Cremin, Kristin Turner, Cheryl Portigal-Todd, Marie Jill Asrat, Jennifer Nuk, Allison Mindlin, Sean Young, et al.

(2018) HUMAN MUTATION. 39(4). p.515-526

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CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients

Anja K Mayer, Caroline Van Cauwenbergh (UGent) , Christine Rother, Britta Baumann, Peggy Reuter, Elfride De Baere (UGent) , Bernd Wissinger and Susanne Kohl

(2017) HUMAN MUTATION. 38(11). p.1579-1591

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journalArticle
A1
open access

TBK1 mutation spectrum in an extended European patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis

Julie van der Zee, Ilse Gijselinck, Sara Van Mossevelde, Federica Perrone, Lubina Dillen, Bavo Heeman, Veerle Bäumer, Sebastiaan Engelborghs, Jan De Bleecker (UGent) , Jonathan Baets, et al.

(2017) HUMAN MUTATION. 38(3). p.297-309

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ALG1-CDG: clinical and molecular characterization of 39 unreported patients

Bobby G Ng, Sergey A Shiryaev, Daisy Rymen, Erik A Eklund, Kimiyo Raymond, Martin Kircher, Jose E Abdenur, Fusun Alehan, Alina T Midro, Michael J Bamshad, et al.

(2016) HUMAN MUTATION. 37(7). p.653-660

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DNA diagnostics of hereditary hearing loss : a targeted resequencing approach combined with a mutation classification system

Manou Sommen, Isabelle Schrauwen, Geert Vandeweyer, Nele Boeckx, Jason J Corneveaux, Jenneke van den Ende, An Boudewyns, Els De Leenheer (UGent) , Sandra Janssens (UGent) , Kathleen Claes (UGent) , et al.

(2016) HUMAN MUTATION. 37(8). p.812-819

Mark

Genetic heterogeneity and clinical variability in musculocontractural Ehlers–Danlos syndrome caused by impaired dermatan sulfate biosynthesis

Delfien Syx (UGent) , Tim Van Damme (UGent) , Sofie Symoens (UGent) , Merel C Maiburg, Ingrid van de Laar, Jenny Morton, Mohnish Suri, Miguel Del Campo, Ingrid Hausser, Trinh Hermanns-Lê, et al.

(2015) HUMAN MUTATION. 36(5). p.535-547

Academic Bibliography

The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV

BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients

TBK1 mutation spectrum in an extended European patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis

ALG1-CDG: clinical and molecular characterization of 39 unreported patients

DNA diagnostics of hereditary hearing loss : a targeted resequencing approach combined with a mutation classification system

Genetic heterogeneity and clinical variability in musculocontractural Ehlers–Danlos syndrome caused by impaired dermatan sulfate biosynthesis

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