Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB
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.
Published in American journal of human genetics (09.03.2012)
Published in American journal of human genetics (09.03.2012)
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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
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.
Published in Bone (New York, N.Y.) (01.09.2018)
Published in Bone (New York, N.Y.) (01.09.2018)
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Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review
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
Published in The journal of clinical endocrinology and metabolism (01.11.2017)
Published in The journal of clinical endocrinology and metabolism (01.11.2017)
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Journal Article
Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia
Glazov, Evgeny A, Zankl, Andreas, Donskoi, Marina, Kenna, Tony J, Thomas, Gethin P, Clark, Graeme R, Duncan, Emma L, Brown, Matthew A
Published in PLoS genetics (01.03.2011)
Published in PLoS genetics (01.03.2011)
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Journal Article
Mutations in Known Monogenic High Bone Mass Loci Only Explain a Small Proportion of High Bone Mass Cases
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
Published in Journal of bone and mineral research (01.03.2016)
Published in Journal of bone and mineral research (01.03.2016)
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SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice
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.
Published in Scientific reports (15.07.2019)
Published in Scientific reports (15.07.2019)
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Journal Article
SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity
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.
Published in Molecular genetics & genomic medicine (01.05.2017)
Published in Molecular genetics & genomic medicine (01.05.2017)
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Journal Article
Translating in vivo metabolomic analysis of succinate dehydrogenase deficient tumours into clinical utility
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
Published in JCO precision oncology (29.03.2018)
Published in JCO precision oncology (29.03.2018)
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Breast cancer in multiple endocrine neoplasia type 1 (MEN1)
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
Published in Endocrinology, diabetes & metabolism case reports (05.05.2021)
Published in Endocrinology, diabetes & metabolism case reports (05.05.2021)
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Journal Article
Germline FH Mutations Presenting With Pheochromocytoma
Clark, Graeme R, Sciacovelli, Marco, Gaude, Edoardo, Walsh, Diana M, Kirby, Gail, Simpson, Michael A, Trembath, Richard C, Berg, Jonathan N, Woodward, Emma R, Kinning, Esther, Morrison, Patrick J, Frezza, Christian, Maher, Eamonn R
Published in The journal of clinical endocrinology and metabolism (01.10.2014)
Published in The journal of clinical endocrinology and metabolism (01.10.2014)
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Journal Article
Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans
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
Published in Science translational medicine (30.03.2016)
Published in Science translational medicine (30.03.2016)
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MethylCal: Bayesian calibration of methylation levels
Ochoa, Eguzkine, Zuber, Verena, Fernandez-Jimenez, Nora, Bilbao, Jose Ramon, Clark, Graeme R, Maher, Eamonn R, Bottolo, Leonardo
Published in Nucleic acids research (22.08.2019)
Published in Nucleic acids research (22.08.2019)
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Tau and α-synuclein in susceptibility to, and dementia in, Parkinson's disease
Goris, An, Williams-Gray, Caroline H., Clark, Graeme R., Foltynie, Thomas, Lewis, Simon J. G., Brown, Joanne, Ban, Maria, Spillantini, Maria G., Compston, Alastair, Burn, David J., Chinnery, Patrick F., Barker, Roger A., Sawcer, Stephen J.
Published in Annals of neurology (01.08.2007)
Published in Annals of neurology (01.08.2007)
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Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort
Winzeler, Bettina, Tufton, Nicola, Lim, Eugenie, Challis, Ben G., Park, Soo‐Mi, Izatt, Louise, Carroll, Paul V., Velusamy, Anand, Hulse, Tony, Whitelaw, Benjamin C., Martin, Ezequiel, Rodger, Fay, Maranian, Melanie, Clark, Graeme R., Akker, Scott, Maher, Eamonn R., Casey, Ruth T.
Published in Clinical endocrinology (Oxford) (01.10.2022)
Published in Clinical endocrinology (Oxford) (01.10.2022)
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Journal Article
Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation
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.
Published in American journal of medical genetics. Part A (01.10.2016)
Published in American journal of medical genetics. Part A (01.10.2016)
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Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa
Simpson, David A, Clark, Graeme R, Alexander, Sharon, Silvestri, Giuliana, Willoughby, Colin E
Published in Journal of medical genetics (01.03.2011)
Published in Journal of medical genetics (01.03.2011)
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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
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
Published in The lancet. Gastroenterology & hepatology (01.07.2018)
Published in The lancet. Gastroenterology & hepatology (01.07.2018)
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Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL
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
Published in Brain communications (01.01.2021)
Published in Brain communications (01.01.2021)
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Journal Article
Investigating the clinical, pathological and molecular profile of oncocytic adrenocortical neoplasms: a case series and literature review
Fewings, Eleanor, Khoo Sert Kim, Serena, Larionov, Alexey, Marker, Alison, Giger, Olivier, Shaw, Ashley, Clark, Graeme R, Kosmoliaptsis, Vasilis, Challis, Benjamin G, Tischkowitz, Marc, Casey, Ruth T
Published in Endocrine oncology (01.01.2021)
Published in Endocrine oncology (01.01.2021)
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