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Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height Hawkes, Gareth; Beaumont, Robin N.; Li, Zilin; Mandla, Ravi; Li, Xihao; Albert, Christine M.; Arnett, Donna K.; Ashley-Koch, Allison E.; Ashrani, Aneel A.; Barnes, Kathleen C.; Boerwinkle, Eric; Brody, Jennifer A.; Carson, April P.; Chami, Nathalie; Chen, Yii-Der Ida; Chung, Mina K.; Curran, Joanne E.; Darbar, Dawood; Ellinor, Patrick T.; Fornage, Myrian; Gordeuk, Victor R.; Guo, Xiuqing; He, Jiang; Hwu, Chii-Min; Kalyani, Rita R.; Kaplan, Robert; Kardia, Sharon L. R.; Kooperberg, Charles; Loos, Ruth J. F.; Lubitz, Steven A.; Minster, Ryan L.; Naseri, Take; Viali, Satupa'itea; Mitchell, Braxton D.; Murabito, Joanne M.; Palmer, Nicholette D.; Psaty, Bruce M.; Redline, Susan; Shoemaker, M. Benjamin; Silverman, Edwin K.; Telen, Marilyn J.; Weiss, Scott T.; Yanek, Lisa R.; Zhou, Hufeng; Liu, Ching-Ti; North, Kari E.; Justice, Anne E.; Locke, Jonathan M.; Owens, Nick; Murray, Anna; Patel, Kashyap; Frayling, Timothy M.; Wright, Caroline F.; Wood, Andrew R.; Lin, Xihong; Manning, Alisa; Weedon, Michael N. Share Save
DISSECTING THE CONTRIBUTION OF COMMON VARIANTS TO RISK OF RARE NEURODEVELOPMENTAL CONDITIONS Huang, Qinqin; Wigdor, Emilie; Campbell, Patrick; Malawsky, Daniel; Samocha, Kaitlin; Chundru, Kartik; Danecek, Petr; Radford, Elizabeth; Barrett, Jeffrey; Wright, Caroline; Firth, Helen; Warrier, Varun; Young, Alexander; Hurles, Matt; Martin, Hilary Share Save
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access Ellard, Sian; Morgan, Sian; Wynn, Sarah L.; Walker, Susan; Parrish, Andrew; Mein, Rachael; Juett, Ana; Ahn, Joo Wook; Berry, Ian; Cassidy, Emma-Jane; Durkie, Miranda; Fish, Louise; Hall, Richard; Howard, Emma; Rankin, Julia; Wright, Caroline F.; Deans, Zandra C.; Scott, Richard H.; Hill, Sue L.; Baple, Emma L.; Taylor, Robert W. Share Save
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations Chundru, V. Kartik; Zhang, Zhancheng; Walter, Klaudia; Lindsay, Sarah J.; Danecek, Petr; Eberhardt, Ruth Y.; Gardner, Eugene J.; Malawsky, Daniel S.; Wigdor, Emilie M.; Torene, Rebecca; Retterer, Kyle; Wright, Caroline F.; Olafsdottir, Hildur; Sacoto, Maria J. Guillen; Ayaz, Akif; Akbeyaz, Ismail Hakki; Tuerkdogan, Dilsad; Al Balushi, Aaisha Ibrahim; Bertoli-Avella, Aida; Bauer, Peter; Szenker-Ravi, Emmanuelle; Reversade, Bruno; Mcwalter, Kirsty; Sheridan, Eamonn; Firth, Helen V.; Hurles, Matthew E.; Samocha, Kaitlin E.; Ustach, Vincent D.; Martin, Hilary C. Share Save
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Population screening requires robust evidence-genomics is no exception Turnbull, Clare; Firth, Helen, V; Wilkie, Andrew O. M.; Newman, William; Raymond, F. Lucy; Tomlinson, Ian; Lachmann, Robin; Wright, Caroline F.; Wordsworth, Sarah; George, Angela; Mccartney, Margaret; Lucassen, Anneke Share Save
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