Academic Bibliography

Mark

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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journalArticle

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.

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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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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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journalArticle
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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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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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

Mark

Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants

Ying Jin, Genevieve Andersen, Daniel Yorgov, Tracey M Ferrara, Songtao Ben, Kelly M Brownson, Paulene J Holland, Stanca A Birlea, Janet Siebert, Anke Hartmann, et al.

(2016) NATURE GENETICS. 48(11). p.1418-1424

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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

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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

Academic Bibliography

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

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

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

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

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

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

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

Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants

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

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

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