A Comprehensive Next Generation Sequencing–Based Genetic Testing Strategy To Improve Diagnosis of Inherited Pheochromocytoma and Paraganglioma
Rattenberry, Eleanor, Vialard, Lindsey, Yeung, Anna, Bair, Hayley, McKay, Kirsten, Jafri, Mariam, Canham, Natalie, Cole, Trevor R, Denes, Judit, Hodgson, Shirley V, Irving, Richard, Izatt, Louise, Korbonits, Márta, Kumar, Ajith V, Lalloo, Fiona, Morrison, Patrick J, Woodward, Emma R, Macdonald, Fiona, Wallis, Yvonne, Maher, Eamonn R
Published in The journal of clinical endocrinology and metabolism (01.07.2013)
Published in The journal of clinical endocrinology and metabolism (01.07.2013)
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Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations
Tatton-Brown, Katrina, Douglas, Jenny, Coleman, Kim, Baujat, Geneviève, Cole, Trevor R.P., Das, Soma, Horn, Denise, Hughes, Helen E., Temple, I. Karen, Faravelli, Francesca, Waggoner, Darrel, Türkmen, Seval, Cormier-Daire, Valérie, Irrthum, Alexandre, Rahman, Nazneen
Published in American journal of human genetics (01.08.2005)
Published in American journal of human genetics (01.08.2005)
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NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes
Douglas, Jenny, Hanks, Sandra, Temple, I. Karen, Davies, Sally, Murray, Alexandra, Upadhyaya, Meena, Tomkins, Susan, Hughes, Helen E., Trevor Cole, R.P., Rahman, Nazneen
Published in American journal of human genetics (01.01.2003)
Published in American journal of human genetics (01.01.2003)
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Journal Article
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities
BOYDEN, Lynn M, CHOI, Murim, LEBEL, Marcel, GORDON, Richard D, SEMMEKROT, Ben A, POUJOL, Alain, VÄLIMÄKI, Matti J, DE FERRARI, Maria E, SANJAD, Sami A, GUTKIN, Michael, KARET, Fiona E, TUCCI, Joseph R, CHOATE, Keith A, STOCKIGT, Jim R, KEPPLER-NOREUIL, Kim M, PORTER, Craig C, ANAND, Sudhir K, WHITEFORD, Margo L, DAVIS, Ira D, DEWAR, Stephanie B, BETTINELLI, Alberto, FADROWSKI, Jeffrey J, BELSHA, Craig W, NELSON-WILLIAMS, Carol J, HUNLEY, Tracy E, NELSON, Raoul D, TRACHTMAN, Howard, COLE, Trevor R. P, PINSK, Maury, BOCKENHAUER, Detlef, SHENOY, Mohan, VAIDYANATHAN, Priya, FOREMAN, John W, RASOULPOUR, Majid, FARHI, Anita, THAMEEM, Farook, AL-SHAHROURI, Hania Z, RADHAKRISHNAN, Jai, GHARAVI, Ali G, GOILAV, Beatrice, LIFTON, Richard P, TOKA, Hakan R, TIKHONOVA, Irina R, BJORNSON, Robert, MANE, Shrikant M, COLUSSI, Giacomo
Published in Nature (London) (02.02.2012)
Published in Nature (London) (02.02.2012)
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Journal Article
Phenotype and natural history in Marshall-Smith syndrome
Shaw, Adam C., van Balkom, Inge D.C., Bauer, Mislen, Cole, Trevor R.P., Delrue, Marie-Ange, Van Haeringen, Arie, Holmberg, Eva, Knight, Samantha J.L., Mortier, Geert, Nampoothiri, Sheela, Pušeljić, Silvija, Zenker, Martin, Cormier-Daire, Valerie, Hennekam, Raoul C.M.
Published in American journal of medical genetics. Part A (01.11.2010)
Published in American journal of medical genetics. Part A (01.11.2010)
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Journal Article
Hypothalamic Reproductive Endocrine Pulse Generator Activity Independent of Neurokinin B and Dynorphin Signaling
Lippincott, Margaret F, León, Silvia, Chan, Yee-Ming, Fergani, Chrysanthi, Talbi, Rajae, Farooqi, I Sadaf, Jones, Christopher M, Arlt, Wiebke, Stewart, Susan E, Cole, Trevor R, Terasawa, Ei, Hall, Janet E, Shaw, Natalie D, Navarro, Victor M, Seminara, Stephanie Beth
Published in The journal of clinical endocrinology and metabolism (01.10.2019)
Published in The journal of clinical endocrinology and metabolism (01.10.2019)
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KLB, encoding β‐Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism
Xu, Cheng, Messina, Andrea, Somm, Emmanuel, Miraoui, Hichem, Kinnunen, Tarja, Acierno, James, Niederländer, Nicolas J, Bouilly, Justine, Dwyer, Andrew A, Sidis, Yisrael, Cassatella, Daniele, Sykiotis, Gerasimos P, Quinton, Richard, De Geyter, Christian, Dirlewanger, Mirjam, Schwitzgebel, Valérie, Cole, Trevor R, Toogood, Andrew A, Kirk, Jeremy MW, Plummer, Lacey, Albrecht, Urs, Crowley, William F, Mohammadi, Moosa, Tena‐Sempere, Manuel, Prevot, Vincent, Pitteloud, Nelly
Published in EMBO molecular medicine (01.10.2017)
Published in EMBO molecular medicine (01.10.2017)
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Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD
Ricketts, Christopher J, Forman, Julia R, Rattenberry, Eleanor, Bradshaw, Nicola, Lalloo, Fiona, Izatt, Louise, Cole, Trevor R, Armstrong, Ruth, Kumar, V.K. Ajith, Morrison, Patrick J, Atkinson, A. Brew, Douglas, Fiona, Ball, Steve G, Cook, Jackie, Srirangalingam, Umasuthan, Killick, Pip, Kirby, Gail, Aylwin, Simon, Woodward, Emma R, Evans, D. Gareth R, Hodgson, Shirley V, Murday, Vicky, Chew, Shern L, Connell, John M, Blundell, Tom L, MacDonald, Fiona, Maher, Eamonn R
Published in Human mutation (2010)
Published in Human mutation (2010)
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Functional Consequences of Seven Novel Mutations in the CYP11B1 Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency
Parajes, Silvia, Loidi, Lourdes, Reisch, Nicole, Dhir, Vivek, Rose, Ian T, Hampel, Rainer, Quinkler, Marcus, Conway, Gerard S, Castro-Feijóo, Lidia, Araujo-Vilar, David, Pombo, Manuel, Dominguez, Fernando, Williams, Emma L, Cole, Trevor R, Kirk, Jeremy M, Kaminsky, Elke, Rumsby, Gill, Arlt, Wiebke, Krone, Nils
Published in The journal of clinical endocrinology and metabolism (01.02.2010)
Published in The journal of clinical endocrinology and metabolism (01.02.2010)
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Journal Article
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma
Jafri, Mariam, Whitworth, James, Rattenberry, Eleanor, Vialard, Lindsey, Kilby, Gail, Kumar, Ajith V., Izatt, Louise, Lalloo, Fiona, Brennan, Paul, Cook, Jackie, Morrison, Patrick J., Canham, Natalie, Armstrong, Ruth, Brewer, Carole, Tomkins, Susan, Donaldson, Alan, Barwell, Julian, Cole, Trevor R., Atkinson, A. Brew, Aylwin, Simon, Ball, Steve G., Srirangalingam, Umasuthan, Chew, Shern L., Evans, Dafydd Gareth R, Hodgson, Shirley V., Irving, Richard, Woodward, Emma, Macdonald, Fiona, Maher, Eamonn R.
Published in Clinical endocrinology (Oxford) (01.06.2013)
Published in Clinical endocrinology (Oxford) (01.06.2013)
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Journal Article
PMS2 Mutations in Childhood Cancer
De Vos, Michel, Hayward, Bruce E., Charlton, Ruth, Taylor, Graham R., Glaser, Adam W., Picton, Susan, Cole, Trevor R., Maher, Eamonn R., McKeown, Carole M. E., Mann, Jill R., Yates, John R., Baralle, Diana, Rankin, Julia, Bonthron, David T., Sheridan, Eamonn
Published in JNCI : Journal of the National Cancer Institute (01.03.2006)
Published in JNCI : Journal of the National Cancer Institute (01.03.2006)
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Journal Article
Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1β mutations
Bingham, Coralie, Ellard, Sian, Cole, Trevor R.P., Jones, Katrin E., Allen, Lisa I.S., Goodship, Judith A., Goodship, Timothy H.J., Bakalinova-Pugh, Daniela, Russell, Gavin I., Woolf, Adrian S., Nicholls, Anthony J., Hattersley, Andrew T.
Published in Kidney international (01.04.2002)
Published in Kidney international (01.04.2002)
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Journal Article
Germline E-cadherin Gene (CDH1) Mutations Predispose to Familial Gastric Cancer and Colorectal Cancer
Richards, Frances M., McKee, Shane A., Rajpar, M. Helen, Cole, Trevor R. P., Evans, D. Gareth R., Jankowski, Janusz A., McKeown, Carole, Sanders, D. Scott A., Maher, Eamonn R.
Published in Human molecular genetics (01.04.1999)
Published in Human molecular genetics (01.04.1999)
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Journal Article
Functional Consequences of Seven Novel Mutations in the CYP11B1 Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency
Parajes, Silvia, Loidi, Lourdes, Reisch, Nicole, Dhir, Vivek, Rose, Ian T, Hampel, Rainer, Quinkler, Marcus, Conway, Gerard S, Castro-Feijóo, Lidia, Araujo-Vilar, David, Pombo, Manuel, Dominguez, Fernando, Williams, Emma L, Cole, Trevor R, Kirk, Jeremy M, Kaminsky, Elke, Rumsby, Gill, Arlt, Wiebke, Krone, Nils
Published in Endocrinology (Philadelphia) (01.02.2010)
Published in Endocrinology (Philadelphia) (01.02.2010)
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Journal Article
TAC3/TACR3 Mutations Reveal Preferential Activation of GnRH Release by Neurokinin B in Neonatal Life Followed by Reversal in Adulthood
Gianetti, Elena, Tusset, Cintia, Noel, Sekoni D, Au, Margaret G, Dwyer, Andrew A, Hughes, Virginia A, Abreu, Ana Paula, Carroll, Jessica, Trarbach, Ericka, Silveira, Leticia FG, Costa, Elaine MF, de Mendonça, Berenice Bilharinho, de Castro, Margaret, Lofrano, Adriana, Hall, Janet E, Bolu, Erol, Ozata, Metin, Quinton, Richard, Amory, John K, Stewart, Susan E, Arlt, Wiebke, Cole, Trevor R, Crowley, William F, Kaiser, Ursula B, Latronico, Ana Claudia, Seminara, Stephanie B
Published in Endocrine reviews (01.04.2010)
Published in Endocrine reviews (01.04.2010)
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Journal Article
TAC3/TACR3 Mutations Reveal Preferential Activation of GnRH Release by Neurokinin B in Neonatal Life Followed by Reversal in Adulthood
Gianetti, Elena, Tusset, Cintia, Noel, Sekoni D, Au, Margaret G, Dwyer, Andrew A, Hughes, Virginia A, Abreu, Ana Paula, Carroll, Jessica, Trarbach, Ericka, Silveira, Leticia FG, Costa, Elaine MF, de Mendonça, Berenice Bilharinho, de Castro, Margaret, Lofrano, Adriana, Hall, Janet E, Bolu, Erol, Ozata, Metin, Quinton, Richard, Amory, John K, Stewart, Susan E, Arlt, Wiebke, Cole, Trevor R, Crowley, William F, Kaiser, Ursula B, Latronico, Ana Claudia, Seminara, Stephanie B
Published in Endocrinology (Philadelphia) (01.04.2010)
Published in Endocrinology (Philadelphia) (01.04.2010)
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Whole-genome sequencing of patients with rare diseases in a national health system
Turro, Ernest, Astle, William J, Megy, Karyn, Gräf, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver S, Downes, Kate, Haimel, Matthias, Tuna, Salih, Deevi, Sri V V, Aitman, Timothy J, Bennett, David L, Calleja, Paul, Carss, Keren, Caulfield, Mark J, Chinnery, Patrick F, Dixon, Peter H, Gale, Daniel P, James, Roger, Koziell, Ania, Laffan, Michael A, Levine, Adam P, Maher, Eamonn R, Markus, Hugh S, Morales, Joannella, Morrell, Nicholas W, Mumford, Andrew D, Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi B A, Saleem, Moin A, Smith, Kenneth G C, Stark, Hannah, Tan, Rhea Y Y, Themistocleous, Andreas C, Thrasher, Adrian J, Watkins, Hugh, Webster, Andrew R, Wilkins, Martin R, Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David R, Kingston, Nathalie, Walker, Neil, Bradley, John R, Ashford, Sofie, Penkett, Christopher J, Freson, Kathleen, Stirrups, Kathleen E, Raymond, F Lucy, Ouwehand, Willem H
Published in Nature (London) (02.07.2020)
Published in Nature (London) (02.07.2020)
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Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation
Lam, Wayne W K, Hatada, Izuho, Ohishi, Sachiko, Mukai, Tsunehiro, Joyce, Johanna A, Cole, Trevor R P, Donnai, Dian, Reik, Wolf, Schofield, Paul N, Maher, Eamonn R
Published in Journal of medical genetics (01.07.1999)
Published in Journal of medical genetics (01.07.1999)
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Whole-genome sequencing of a sporadic primary immunodeficiency cohort
Thaventhiran, James E D, Lango Allen, Hana, Burren, Oliver S, Rae, William, Greene, Daniel, Staples, Emily, Zhang, Zinan, Farmery, James H R, Simeoni, Ilenia, Rivers, Elizabeth, Maimaris, Jesmeen, Penkett, Christopher J, Stephens, Jonathan, Deevi, Sri V V, Sanchis-Juan, Alba, Gleadall, Nicholas S, Thomas, Moira J, Sargur, Ravishankar B, Gordins, Pavels, Baxendale, Helen E, Brown, Matthew, Tuijnenburg, Paul, Worth, Austen, Hanson, Steven, Linger, Rachel J, Buckland, Matthew S, Rayner-Matthews, Paula J, Gilmour, Kimberly C, Samarghitean, Crina, Seneviratne, Suranjith L, Sansom, David M, Lynch, Andy G, Megy, Karyn, Ellinghaus, Eva, Ellinghaus, David, Jorgensen, Silje F, Karlsen, Tom H, Stirrups, Kathleen E, Cutler, Antony J, Kumararatne, Dinakantha S, Chandra, Anita, Edgar, J David M, Herwadkar, Archana, Cooper, Nichola, Grigoriadou, Sofia, Huissoon, Aarnoud P, Goddard, Sarah, Jolles, Stephen, Schuetz, Catharina, Boschann, Felix, Lyons, Paul A, Hurles, Matthew E, Savic, Sinisa, Burns, Siobhan O, Kuijpers, Taco W, Turro, Ernest, Ouwehand, Willem H, Thrasher, Adrian J, Smith, Kenneth G C
Published in Nature (London) (02.07.2020)
Published in Nature (London) (02.07.2020)
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Neurofibromatosis type 2 in twins
Abbott, Joseph, Sivaraj, Ramesh R, Ng, Antony, Cole, Trevor R P, MacPherson, Lesley K R, Ragge, Nicola K
Published in Journal of pediatric ophthalmology and strabismus (01.05.2008)
Published in Journal of pediatric ophthalmology and strabismus (01.05.2008)
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