Academic Bibliography

Mark

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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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

Mark

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

Mark

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

Mark

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

Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)

Arnaud Vanlander (UGent) , Björn Menten (UGent) , Joél Smet (UGent) , Linda De Meirleir, Tom Sante (UGent) , Boel De Paepe (UGent) , Sara Seneca, Sarah F Pearce, Christopher A Powell, Sarah Vergult (UGent) , et al.

(2015) HUMAN MUTATION. 36(2). p.222-231

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An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients

Miriam Bauwens (UGent) , Julie De Zaeytijd (UGent) , Nicole Weisschuh, Susanne Kohl, Françoise Meire, Karin Dahan, Fanny Depasse, Sarah De Jaegere (UGent) , Thomy De Ravel, Marjan De Rademaeker, et al.

(2015) HUMAN MUTATION. 36(1). p.39-42

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

Mark

journalArticle
A1
open access

High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlation

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, Meagan Cochran, Mary-Alice Abbott, Joan Atkin, et al.

(2015) HUMAN MUTATION. 36(11). p.1052-1063

Academic Bibliography

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

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

Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients

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

High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlation

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