The evolving therapeutic landscape of genetic skeletal disorders

por Sabir, Ataf Hussain, Cole, Trevor
Publicado 2019

The Impact of Cell-Free DNA Analysis on the Management of Retinoblastoma

por Gerrish, Amy, Jenkinson, Helen, Cole, Trevor
Publicado 2021

Carpal tunnel syndrome in paediatric patients: A novel association with Kosaki overgrowth syndrome

por Walker, Harriet, Foster, Alison, Cole, Trevor, Jester, Andrea
Publicado 2020

A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption

por Meyer, Esther, Kurian, Manju A., Pasha, Shanaz, Trembath, Richard C., Cole, Trevor, Maher, Eamonn R.
Publicado 2010

Non‐invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage

por Parks, Michael, Court, Samantha, Cleary, Siobhan, Clokie, Samuel, Hewitt, Julie, Williams, Denise, Cole, Trevor, MacDonald, Fiona, Griffiths, Mike, Allen, Stephanie
Publicado 2016

Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage

por Parks, Michael, Court, Samantha, Bowns, Benjamin, Cleary, Siobhan, Clokie, Samuel, Hewitt, Julie, Williams, Denise, Cole, Trevor, MacDonald, Fiona, Griffiths, Mike, Allen, Stephanie
Publicado 2017

Clinical Service Delivery of Noninvasive Prenatal Diagnosis by Relative Haplotype Dosage for Single-Gene Disorders

por Young, Elizabeth, Bowns, Benjamin, Gerrish, Amy, Parks, Michael, Court, Samantha, Clokie, Samuel, Mashayamombe-Wolfgarten, Chipo, Hewitt, Julie, Williams, Denise, Cole, Trevor, Allen, Stephanie
Publicado 2020

Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour

por Gerrish, Amy, Stone, Edward, Clokie, Samuel, Ainsworth, John R, Jenkinson, Helen, McCalla, Maureen, Hitchcott, Carol, Colmenero, Isabel, Allen, Stephanie, Parulekar, Manoj, Cole, Trevor
Publicado 2019

Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies

por Gerrish, Amy, Bowns, Benjamin, Mashayamombe-Wolfgarten, Chipo, Young, Elizabeth, Court, Samantha, Bott, Joshua, McCalla, Maureen, Ramsden, Simon, Parks, Michael, Goudie, David, Carless, Sue, Clokie, Samuel, Cole, Trevor, Allen, Stephanie
Publicado 2020

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability

por Tatton-Brown, Katrina, Loveday, Chey, Yost, Shawn, Clarke, Matthew, Ramsay, Emma, Zachariou, Anna, Elliott, Anna, Wylie, Harriet, Ardissone, Anna, Rittinger, Olaf, Stewart, Fiona, Temple, I. Karen, Cole, Trevor, Mahamdallie, Shazia, Seal, Sheila, Ruark, Elise, Rahman, Nazneen
Publicado 2017

EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome

por Pathak, Sagar J., Mueller, James L., Okamoto, Kevin, Das, Barun, Hertecant, Jozef, Greenhalgh, Lynn, Cole, Trevor, Pinsk, Vered, Yerushalmi, Baruch, Gurkan, Odul E., Yourshaw, Michael, Hernandez, Erick, Oesterreicher, Sandy, Naik, Sandhia, Sanderson, Ian R., Axelsson, Irene, Agardh, Daniel, Boland, C. Richard, Martin, Martin G., Putnam, Christopher D., Sivagnanam, Mamata
Publicado 2018

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

por Sanchis-Juan, Alba, Stephens, Jonathan, French, Courtney E., Gleadall, Nicholas, Mégy, Karyn, Penkett, Christopher, Shamardina, Olga, Stirrups, Kathleen, Delon, Isabelle, Dewhurst, Eleanor, Dolling, Helen, Erwood, Marie, Grozeva, Detelina, Stefanucci, Luca, Arno, Gavin, Webster, Andrew R., Cole, Trevor, Austin, Topun, Branco, Ricardo Garcia, Ouwehand, Willem H., Raymond, F. Lucy, Carss, Keren J.
Publicado 2018

Identification of new Wilms tumour predisposition genes: an exome sequencing study

por Mahamdallie, Shazia, Yost, Shawn, Poyastro-Pearson, Emma, Holt, Esty, Zachariou, Anna, Seal, Sheila, Elliott, Anna, Clarke, Matthew, Warren-Perry, Margaret, Hanks, Sandra, Anderson, John, Bomken, Simon, Cole, Trevor, Farah, Roula, Furtwaengler, Rhoikos, Glaser, Adam, Grundy, Richard, Hayden, James, Lowis, Steve, Millot, Frédéric, Nicholson, James, Ronghe, Milind, Skeen, Jane, Williams, Denise, Yeomanson, Daniel, Ruark, Elise, Rahman, Nazneen
Publicado 2019

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

por Tatton-Brown, Katrina, Hanks, Sandra, Ruark, Elise, Zachariou, Anna, Duarte, Silvana Del Vecchio, Ramsay, Emma, Snape, Katie, Murray, Anne, Perdeaux, Elizabeth R, Seal, Sheila, Loveday, Chey, Banka, Siddharth, Clericuzio, Carol, Flinter, Frances, Magee, Alex, McConnell, Vivienne, Patton, Michael, Raith, Wolfgang, Rankin, Julia, Splitt, Miranda, Strenger, Volker, Taylor, Clare, Wheeler, Patricia, Temple, I Karen, Cole, Trevor, Douglas, Jenny, Rahman, Nazneen
Publicado 2011

KLB, encoding β‐Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism

por 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
Publicado 2017

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

por Hamilton, Mark J, Caswell, Richard C, Canham, Natalie, Cole, Trevor, Firth, Helen V, Foulds, Nicola, Heimdal, Ketil, Hobson, Emma, Houge, Gunnar, Joss, Shelagh, Kumar, Dhavendra, Lampe, Anne Katrin, Maystadt, Isabelle, McKay, Victoria, Metcalfe, Kay, Newbury-Ecob, Ruth, Park, Soo-Mi, Robert, Leema, Rustad, Cecilie F, Wakeling, Emma, Wilkie, Andrew O M, Study, The Deciphering Developmental Disorders, Twigg, Stephen R F, Suri, Mohnish
Publicado 2018

Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

por Tatton-Brown, Katrina, Hanks, Sandra, Ruark, Elise, Zachariou, Anna, Del Vecchio Duarte, Silvana, Ramsay, Emma, Snape, Katie, Murray, Anne, Perdeaux, Elizabeth R, Seal, Sheila, Loveday, Chey, Banka, Siddharth, Clericuzio, Carol, Flinter, Frances, Magee, Alex, McConnell, Vivienne, Patton, Michael, Raith, Wolfgang, Rankin, Julia, Splitt, Miranda, Strenger, Volker, Taylor, Clare, Wheeler, Patricia, Temple, I Karen, Cole, Trevor, Douglas, Jenny, Rahman, Nazneen
Publicado 2018

Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD

por Andrews, Katrina A, Ascher, David B, Pires, Douglas Eduardo Valente, Barnes, Daniel R, Vialard, Lindsey, Casey, Ruth T, Bradshaw, Nicola, Adlard, Julian, Aylwin, Simon, Brennan, Paul, Brewer, Carole, Cole, Trevor, Cook, Jackie A, Davidson, Rosemarie, Donaldson, Alan, Fryer, Alan, Greenhalgh, Lynn, hodgson, Shirley V, Irving, Richard, Lalloo, Fiona, McConachie, Michelle, McConnell, Vivienne P M, Morrison, Patrick J, Murday, Victoria, Park, Soo-Mi, Simpson, Helen L, Snape, Katie, Stewart, Susan, Tomkins, Susan E, Wallis, Yvonne, Izatt, Louise, Goudie, David, Lindsay, Robert S, Perry, Colin G, Woodward, Emma R, Antoniou, Antonis C, Maher, Eamonn R
Publicado 2018

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

por Whitworth, James, Smith, Philip S., Martin, Jose-Ezequiel, West, Hannah, Luchetti, Andrea, Rodger, Faye, Clark, Graeme, Carss, Keren, Stephens, Jonathan, Stirrups, Kathleen, Penkett, Chris, Mapeta, Rutendo, Ashford, Sofie, Megy, Karyn, Shakeel, Hassan, Ahmed, Munaza, Adlard, Julian, Barwell, Julian, Brewer, Carole, Casey, Ruth T., Armstrong, Ruth, Cole, Trevor, Evans, Dafydd Gareth, Fostira, Florentia, Greenhalgh, Lynn, Hanson, Helen, Henderson, Alex, Hoffman, Jonathan, Izatt, Louise, Kumar, Ajith, Kwong, Ava, Lalloo, Fiona, Ong, Kai Ren, Paterson, Joan, Park, Soo-Mi, Chen-Shtoyerman, Rakefet, Searle, Claire, Side, Lucy, Skytte, Anne-Bine, Snape, Katie, Woodward, Emma R., Tischkowitz, Marc D., Maher, Eamonn R.
Publicado 2018

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

por Akawi, Nadia, McRae, Jeremy, Ansari, Morad, Balasubramanian, Meena, Blyth, Moira, Brady, Angela F., Clayton, Stephen, Cole, Trevor, Deshpande, Charu, Fitzgerald, Tomas W., Foulds, Nicola, Francis, Richard, Gabriel, George, Gerety, Sebastian S., Goodship, Judith, Hobson, Emma, Jones, Wendy D., Joss, Shelagh, King, Daniel, Klena, Nikolai, Kumar, Ajith, Lees, Melissa, Lelliott, Chris, Lord, Jenny, McMullan, Dominic, O'Regan, Mary, Osio, Deborah, Piombo, Virginia, Prigmore, Elena, Rajan, Diana, Rosser, Elisabeth, Sifrim, Alejandro, Smith, Audrey, Swaminathan, Ganesh J., Turnpenny, Peter, Whitworth, James, Wright, Caroline F., Firth, Helen V., Barrett, Jeffrey C., Lo, Cecilia W., FitzPatrick, David R., Hurles, Matthew E.
Publicado 2015