Ohcanbohtosat - Clark, Graeme R

MethylCal: Bayesian calibration of methylation levels Dahkki Ochoa, Eguzkine, Zuber, Verena, Fernandez-Jimenez, Nora, Bilbao, Jose Ramon, Clark, Graeme R, Maher, Eamonn R, Bottolo, Leonardo

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Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia Dahkki Glazov, Evgeny A., Zankl, Andreas, Donskoi, Marina, Kenna, Tony J., Thomas, Gethin P., Clark, Graeme R., Duncan, Emma L., Brown, Matthew A.

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Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL Dahkki Morgan, Neil V, Yngvadottir, Bryndis, O’Driscoll, Mary, Clark, Graeme R, Walsh, Diana, Martin, Ezequiel, Tee, Louise, Reid, Evan, Titheradge, Hannah L, Maher, Eamonn R

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Breast cancer in multiple endocrine neoplasia type 1 (MEN1) Dahkki Cheah, Seong Keat, Bisambar, Chad Ramese, Pitfield, Deborah, Giger, Olivier, Hoopen, Rogier ten, Martin, Jose-Ezequiel, Clark, Graeme R, Park, Soo-Mi, Parkinson, Craig, Challis, Benjamin G, Casey, Ruth T

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

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Translating in vivo metabolomic analysis of succinate dehydrogenase deficient tumours into clinical utility Dahkki Casey, Ruth T, McLean, Mary A, Madhu, Basetti, Challis, Benjamin. G, ten Hoopen, Rogier., Roberts, Thomas., Clark, Graeme. R., Pittfield, Deborah, Simpson, Helen L, Bulusu, Venkata R, Allinson, Kieran, Happerfield, Lisa, Park, Soo-Mi, Marker, Alison, Giger, Olivier, Maher, Eamonn R, Gallagher, Ferdia A

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

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

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SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice Dahkki Casey, Ruth T., ten Hoopen, Rogier, Ochoa, Eguzkine, Challis, Benjamin G., Whitworth, James, Smith, Philip S., Martin, Jose Ezequiel, Clark, Graeme R., Rodger, Fay, Maranian, Mel, Allinson, Kieren, Madhu, Basetti, Roberts, Thomas, Campos, Luis, Anstee, Joanne, Park, Soo-Mi, Marker, Alison, Watts, Colin, Bulusu, Venkata R., Giger, Olivier T., Maher, Eamonn R.

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

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Genome-wide association study of extreme high bone mass: Contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes Dahkki Gregson, Celia L., Newell, Felicity, Leo, Paul J., Clark, Graeme R., Paternoster, Lavinia, Marshall, Mhairi, Forgetta, Vincenzo, Morris, John A., Ge, Bing, Bao, Xiao, Duncan Bassett, J.H., Williams, Graham R., Youlten, Scott E., Croucher, Peter I., Davey Smith, George, Evans, David M., Kemp, John P., Brown, Matthew A., Tobias, Jon H., Duncan, Emma L.

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

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

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Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study Dahkki Fewings, Eleanor, Larionov, Alexey, Redman, James, Goldgraben, Mae A, Scarth, James, Richardson, Susan, Brewer, Carole, Davidson, Rosemarie, Ellis, Ian, Evans, D Gareth, Halliday, Dorothy, Izatt, Louise, Marks, Peter, McConnell, Vivienne, Verbist, Louis, Mayes, Rebecca, Clark, Graeme R, Hadfield, James, Chin, Suet-Feung, Teixeira, Manuel R, Giger, Olivier T, Hardwick, Richard, di Pietro, Massimiliano, O'Donovan, Maria, Pharoah, Paul, Caldas, Carlos, Fitzgerald, Rebecca C, Tischkowitz, Marc

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Somatic Activating Mutations in Pik3ca Cause Sporadic Venous Malformations in Mice and Humans Dahkki Castillo, Sandra D., Tzouanacou, Elena, Zaw-Thin, May, Berenjeno, Inma M., Parker, Victoria E.R., Chivite, Iñigo, Milà-Guasch, Maria, Pearce, Wayne, Solomon, Isabelle, Angulo-Urarte, Ana, Figueiredo, Ana M., Dewhurst, Robert E., Knox, Rachel G., Clark, Graeme R., Scudamore, Cheryl L., Badar, Adam, Kalber, Tammy L., Foster, Julie, Stuckey, Daniel J., David, Anna L., Phillips, Wayne A., Lythgoe, Mark F., Wilson, Valerie, Semple, Robert K., Sebire, Neil J., Kinsler, Veronica A., Graupera, Mariona, Vanhaesebroeck, Bart

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

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