Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia

Por Glazov, Evgeny A., Zankl, Andreas, Donskoi, Marina, Kenna, Tony J., Thomas, Gethin P., Clark, Graeme R., Duncan, Emma L., Brown, Matthew A.
Publicado em 2011

Nephroblastomatosis or Wilms Tumor in a Fourth Patient With a Somatic PIK3CA Mutation

Por Gripp, Karen W., Baker, Laura, Kandula, Vinay, Conard, Katrina, Scavina, Mena, Napoli, Joseph A., Griffin, Gregory C., Thacker, Mihir, Knox, Rachel G., Clark, Graeme R., Parker, Victoria E. R., Semple, Robert, Mirzaa, Ghayda, Keppler-Noreuil, Kim M.
Publicado no Am J Med Genet A (2016)

Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB

Por Zankl, Andreas, Duncan, Emma L., Leo, Paul J., Clark, Graeme R., Glazov, Evgeny A., Addor, Marie-Claude, Herlin, Troels, Kim, Chong Ae, Leheup, Bruno P., McGill, Jim, McTaggart, Steven, Mittas, Stephan, Mitchell, Anna L., Mortier, Geert R., Robertson, Stephen P., Schroeder, Marie, Terhal, Paulien, Brown, Matthew A.
Publicado em 2012

Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB

Por Zankl, Andreas, Duncan, Emma L., Leo, Paul J., Clark, Graeme R., Glazov, Evgeny A., Addor, Marie-Claude, Herlin, Troels, Kim, Chong Ae, Leheup, Bruno P., McGill, Jim, McTaggart, Steven, Mittas, Stephen, Mitchell, Anna L., Mortier, Geert R., Robertson, Stephen P., Schroeder, Marie, Terhal, Paulien, Brown, Matthew A.
Publicado em 2014

SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity

Por Casey, Ruth T., Ascher, David B., Rattenberry, Eleanor, Izatt, Louise, Andrews, Katrina A., Simpson, Helen L., Challis, Benjamen, Park, Soo‐Mi, Bulusu, Venkata R., Lalloo, Fiona, Pires, Douglas E. V., West, Hannah, Clark, Graeme R., Smith, Philip S., Whitworth, James, Papathomas, Thomas G., Taniere, Phillipe, Savisaar, Rosina, Hurst, Laurence D., Woodward, Emma R., Maher, Eamonn R.
Publicado no Mol Genet Genomic Med (2017)

Mutations in Known Monogenic High Bone Mass Loci Only Explain a Small Proportion of High Bone Mass Cases

Por Gregson, Celia L, Wheeler, Lawrie, Hardcastle, Sarah A, Appleton, Louise H, Addison, Kathryn A, Brugmans, Marieke, Clark, Graeme R, Ward, Kate A, Paggiosi, Margaret, Stone, Mike, Thomas, Joegi, Agarwal, Rohan, Poole, Kenneth ES, McCloskey, Eugene, Fraser, William D, Williams, Eleanor, Bullock, Alex N, Davey Smith, George, Brown, Matthew A, Tobias, Jon H, Duncan, Emma L
Publicado no J Bone Miner Res (2015)

Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review

Por Casey, Ruth T., Warren, Anne Y., Martin, Jose Ezequiel, Challis, Benjamin G., Rattenberry, Eleanor, Whitworth, James, Andrews, Katrina A., Roberts, Thomas, Clark, Graeme R., West, Hannah, Smith, Philip S., Docquier, France M., Rodger, Fay, Murray, Vicki, Simpson, Helen L., Wallis, Yvonne, Giger, Olivier, Tran, Maxine, Tomkins, Susan, Stewart, Grant D., Park, Soo-Mi, Woodward, Emma R., Maher, Eamonn R.
Publicado no J Clin Endocrinol Metab (2017)

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

Por Estrada, Karol, Styrkarsdottir, Unnur, Evangelou, Evangelos, Hsu, Yi-Hsiang, Duncan, Emma L, Ntzani, Evangelia E, Oei, Ling, Albagha, Omar M E, Amin, Najaf, Kemp, John P, Koller, Daniel L, Li, Guo, Liu, Ching-Ti, Minster, Ryan L, Moayyeri, Alireza, Vandenput, Liesbeth, Willner, Dana, Xiao, Su-Mei, Yerges-Armstrong, Laura M, Zheng, Hou-Feng, Alonso, Nerea, Eriksson, Joel, Kammerer, Candace M, Kaptoge, Stephen K, Leo, Paul J, Thorleifsson, Gudmar, Wilson, Scott G, Wilson, James F, Aalto, Ville, Alen, Markku, Aragaki, Aaron K, Aspelund, Thor, Center, Jacqueline R, Dailiana, Zoe, Duggan, David J, Garcia, Melissa, Garcia-Giralt, Natàlia, Giroux, Sylvie, Hallmans, Göran, Hocking, Lynne J, Husted, Lise Bjerre, Jameson, Karen A, Khusainova, Rita, Kim, Ghi Su, Kooperberg, Charles, Koromila, Theodora, Kruk, Marcin, Laaksonen, Marika, Lacroix, Andrea Z, Lee, Seung Hun, Leung, Ping C, Lewis, Joshua R, Masi, Laura, Mencej-Bedrac, Simona, Nguyen, Tuan V, Nogues, Xavier, Patel, Millan S, Prezelj, Janez, Rose, Lynda M, Scollen, Serena, Siggeirsdottir, Kristin, Smith, Albert V, Svensson, Olle, Trompet, Stella, Trummer, Olivia, van Schoor, Natasja M, Woo, Jean, Zhu, Kun, Balcells, Susana, Brandi, Maria Luisa, Buckley, Brendan M, Cheng, Sulin, Christiansen, Claus, Cooper, Cyrus, Dedoussis, George, Ford, Ian, Frost, Morten, Goltzman, David, González-Macías, Jesús, Kähönen, Mika, Karlsson, Magnus, Khusnutdinova, Elza, Koh, Jung-Min, Kollia, Panagoula, Langdahl, Bente Lomholt, Leslie, William D, Lips, Paul, Ljunggren, Östen, Lorenc, Roman S, Marc, Janja, Mellström, Dan, Obermayer-Pietsch, Barbara, Olmos, José M, Pettersson-Kymmer, Ulrika, Reid, David M, Riancho, José A, Ridker, Paul M, Rousseau, François, Slagboom, P Eline, Tang, Nelson LS, Urreizti, Roser, Van Hul, Wim, Viikari, Jorma, Zarrabeitia, María T, Aulchenko, Yurii S, Castano-Betancourt, Martha, Grundberg, Elin, Herrera, Lizbeth, Ingvarsson, Thorvaldur, Johannsdottir, Hrefna, Kwan, Tony, Li, Rui, Luben, Robert, Medina-Gómez, Carolina, Palsson, Stefan Th, Reppe, Sjur, Rotter, Jerome I, Sigurdsson, Gunnar, van Meurs, Joyce B J, Verlaan, Dominique, Williams, Frances MK, Wood, Andrew R, Zhou, Yanhua, Gautvik, Kaare M, Pastinen, Tomi, Raychaudhuri, Soumya, Cauley, Jane A, Chasman, Daniel I, Clark, Graeme R, Cummings, Steven R, Danoy, Patrick, Dennison, Elaine M, Eastell, Richard, Eisman, John A, Gudnason, Vilmundur, Hofman, Albert, Jackson, Rebecca D, Jones, Graeme, Jukema, J Wouter, Khaw, Kay-Tee, Lehtimäki, Terho, Liu, Yongmei, Lorentzon, Mattias, McCloskey, Eugene, Mitchell, Braxton D, Nandakumar, Kannabiran, Nicholson, Geoffrey C, Oostra, Ben A, Peacock, Munro, Pols, Huibert A P, Prince, Richard L, Raitakari, Olli, Reid, Ian R, Robbins, John, Sambrook, Philip N, Sham, Pak Chung, Shuldiner, Alan R, Tylavsky, Frances A, van Duijn, Cornelia M, Wareham, Nick J, Cupples, L Adrienne, Econs, Michael J, Evans, David M, Harris, Tamara B, Kung, Annie Wai Chee, Psaty, Bruce M, Reeve, Jonathan, Spector, Timothy D, Streeten, Elizabeth A, Zillikens, M Carola, Thorsteinsdottir, Unnur, Ohlsson, Claes, Karasik, David, Richards, J Brent, Brown, Matthew A, Stefansson, Kari, Uitterlinden, André G, Ralston, Stuart H, Ioannidis, John P A, Kiel, Douglas P, Rivadeneira, Fernando
Publicado em 2012