Ghent University Academic Bibliography

Journal Article
A1
open access

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

M Felicia Basilicata, Ange-Line Bruel, Giuseppe Semplicio, Claudia Isabelle Keller Valsecchi, Tuğçe Aktaş, Yannis Duffourd, Tobias Rumpf, Jenny Morton, Iben Bache, Witold G Szymanski, et al.

(2018) NATURE GENETICS. 50(10). p.1442-1451

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Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks

Florence Demenais, Patricia Margaritte-Jeannin, Kathleen C Barnes, William OC Cookson, Janine Altmueller, Wei Ang, R Graham Barr, Terri H Beaty, Allan B Becker, John Beilby, et al.

(2018) NATURE GENETICS. 50(1). p.42-53

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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L Collins, Tammy Kammin, Elyse Mitchell, Jennelle C Hodge, Carrie Hanscom, Vamsee Pillalamarri, Catarina M Seabra, Mary-Alice Abbott, et al.

(2017) NATURE GENETICS. 49(1). p.36-45

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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Daniela A Braun, Jia Rao, Geraldine Mollet, David Schapiro, Marie-Claire Daugeron, Weizhen Tan, Olivier Gribouval, Olivia Boyer, Patrick Revy, Tilman Jobst-Schwan, et al.

(2017) NATURE GENETICS. 49(10). p.1529-1538

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Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis

Brian D Hobbs, Kim de Jong, Maxime Lamontagne, Yohan Bosse, Nick Shrine, Maria Soler Artigas, Louise V Wain, Ian P Hall, Victoria E Jackson, Annah B Wyss, et al.

(2017) NATURE GENETICS. 49(3). p.426-432

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Journal Article
A1
open access

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Roger L Milne, Karoline B Kuchenbaecker, Kyriaki Michailidou, Jonathan Beesley, Siddhartha Kar, Sara Lindström, Shirley Hui, Audrey Lemaçon, Penny Soucy, Joe Dennis, et al.

(2017) NATURE GENETICS. 49(12). p.1767-1778

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Journal Article
A1
open access

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Catherine M Phelan, Karoline B Kuchenbaecker, Jonathan P Tyrer, Siddhartha P Kar, Kate Lawrenson, Stacey J Winham, Joe Dennis, Ailith Pirie, Marjorie J Riggan, Ganna Chornokur, et al.

(2017) NATURE GENETICS. 49(5). p.680-691

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Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

Alison M Dunning, Kyriaki Michailidou, Karoline B Kuchenbaecker, Deborah Thompson, Juliet D French, Jonathan Beesley, Catherine S Healey, Siddhartha Kar, Karen A Pooley, Elena Lopez-Knowles, et al.

(2016) NATURE GENETICS. 48(4). p.374-386

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Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

Nicole TM Saksens, Mark P Krebs, Frederieke E Schoenmaker-Koller, Wanda Hicks, Minzhong Yu, Lanying Shi, Lucy Rowe, Gayle B Collin, Jeremy R Charette, Stef J Letteboer, et al.

(2016) NATURE GENETICS. 48(2). p.144-151

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Genetic predisposition for beta cell fragility underlies type 1 and type 2 diabetes

James Dooley, Lei Tian, Susann Schonefeldt, Viviane Delghingaro-Augusto, Josselyn E Garcia-Perez, Emanuela Pasciuto, Daniele Di Marino, Edward J Carr, Nikolay Oskolkov, Valeriya Lyssenko, et al.

(2016) NATURE GENETICS. 48(5). p.519-527

Academic Bibliography

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

Genetic predisposition for beta cell fragility underlies type 1 and type 2 diabetes

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