Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group

por Taylor, Amy, Brady, Angela F, Frayling, Ian M, Hanson, Helen, Tischkowitz, Marc, Turnbull, Clare, Side, Lucy
Publicado 2018

UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants

por Hanson, Helen, Brady, Angela F, Crawford, Gillian, Eeles, Rosalind A, Gibson, Sarah, Jorgensen, Mette, Izatt, Louise, Sohaib, Aslam, Tischkowitz, Marc, Evans, D Gareth
Publicado 2021

Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients

por Angwin, Chloe, Brady, Angela F., Colombi, Marina, Ferguson, David J. P., Pollitt, Rebecca, Pope, F. Michael, Ritelli, Marco, Symoens, Sofie, Ghali, Neeti, van Dijk, Fleur S.
Publicado 2019

CCDC88A mutations cause PEHO-like syndrome in humans and mouse

por Nahorski, Michael S., Asai, Masato, Wakeling, Emma, Parker, Alasdair, Asai, Naoya, Canham, Natalie, Holder, Susan E., Chen, Ya-Chun, Dyer, Joshua, Brady, Angela F., Takahashi, Masahide, Woods, C. Geoffrey
Publicado 2016

The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services

por Evans, D Gareth R, Barwell, Julian, Eccles, Diana M, Collins, Amanda, Izatt, Louise, Jacobs, Chris, Donaldson, Alan, Brady, Angela F, Cuthbert, Andrew, Harrison, Rachel, Thomas, Sue, Howell, Anthony, Miedzybrodzka, Zosia, Murray, Alex
Publicado 2014

Oral characteristics in adult individuals with periodontal Ehlers‐Danlos syndrome

por Lepperdinger, Ulrike, Angwin, Chloe, Milnes, Di, Sobey, Glenda, Ghali, Neeti, Johnson, Diana, Brady, Angela F., Kammin, Tammy, Bowen, Jessica M., Gröbner, Rebekka, Lundberg, Pernilla, Scott, James, Zschocke, Johannes, van Dijk, Fleur S., Kapferer‐Seebacher, Ines
Publicado 2022

Randomised trial of population‐based BRCA testing in Ashkenazi Jews: long‐term secondary lifestyle behavioural outcomes

por Burnell, Matthew, Gaba, Faiza, Sobocan, Monika, Desai, Rakshit, Sanderson, Saskia, Loggenberg, Kelly, Gessler, Sue, Side, Lucy, Brady, Angela F., Dorkins, Huw, Wallis, Yvonne, Jacobs, Chris, Legood, Rosa, Beller, Uziel, Tomlinson, Ian, Wardle, Jane, Menon, Usha, Jacobs, Ian, Manchanda, Ranjit
Publicado 2022

Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service

por Maher, Eamonn R., Adlard, Julian, Barwell, Julian, Brady, Angela F., Brennan, Paul, Cook, Jackie, Crawford, Gillian S., Dabir, Tabib, Davidson, Rosemarie, Dyer, Rebecca, Harrison, Rachel, Forde, Claire, Halliday, Dorothy, Hanson, Helen, Hay, Eleanor, Higgs, Jenny, Jones, Mari, Lalloo, Fiona, Miedzybrodzka, Zosia, Ong, Kai Ren, Pelz, Frauke, Ruddy, Deborah, Snape, Katie, Whitworth, James, Sandford, Richard N.
Publicado 2022

The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2

por Philpott, Sue, Raikou, Maria, Manchanda, Ranjit, Lockley, Michelle, Singh, Naveena, Scott, Malcolm, Evans, D Gareth, Adlard, Julian, Ahmed, Munaza, Edmondson, Richard, Woodward, Emma Roisin, Lamnisos, Athena, Balega, Janos, Brady, Angela F, Sharma, Aarti, Izatt, Louise, Kulkarni, Anjana, Tripathi, Vishakha, Solomons, Joyce S, Hayes, Kevin, Hanson, Helen, Snape, Katie, Side, Lucy, Skates, Steve, McGuire, Alistair, Rosenthal, Adam N
Publicado 2023

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

por Nahorski, Michael S, Maddirevula, Sateesh, Ishimura, Ryosuke, Alsahli, Saud, Brady, Angela F, Begemann, Anaïs, Mizushima, Tsunehiro, Guzmán-Vega, Francisco J, Obata, Miki, Ichimura, Yoshinobu, Alsaif, Hessa S, Anazi, Shams, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Monies, Dorota, Abouelhoda, Mohamed, Meyer, Brian F, Alfadhel, Majid, Eyaid, Wafa, Zweier, Markus, Steindl, Katharina, Rauch, Anita, Arold, Stefan T, Woods, C Geoffrey, Komatsu, Masaaki, Alkuraya, Fowzan S
Publicado 2018

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

por Buonocore, Federica, Kühnen, Peter, Suntharalingham, Jenifer P., Del Valle, Ignacio, Digweed, Martin, Stachelscheid, Harald, Khajavi, Noushafarin, Didi, Mohammed, Brady, Angela F., Blankenstein, Oliver, Procter, Annie M., Dimitri, Paul, Wales, Jerry K.H., Ghirri, Paolo, Knöbl, Dieter, Strahm, Brigitte, Erlacher, Miriam, Wlodarski, Marcin W., Chen, Wei, Kokai, George K., Anderson, Glenn, Morrogh, Deborah, Moulding, Dale A., McKee, Shane A., Niemeyer, Charlotte M., Grüters, Annette, Achermann, John C.
Publicado 2017

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the...

por Giunta, Cecilia, Baumann, Matthias, Fauth, Christine, Lindert, Uschi, Abdalla, Ebtesam M, Brady, Angela F, Collins, James, Dastgir, Jahannaz, Donkervoort, Sandra, Ghali, Neeti, Johnson, Diana S, Kariminejad, Ariana, Koch, Johannes, Kraenzlin, Marius, Lahiri, Nayana, Lozic, Bernarda, Manzur, Adnan Y, Morton, Jenny E V, Pilch, Jacek, Pollitt, Rebecca C, Schreiber, Gudrun, Shannon, Nora L, Sobey, Glenda, Vandersteen, Anthony, van Dijk, Fleur S, Witsch-Baumgartner, Martina, Zschocke, Johannes, Pope, F Michael, Bönnemann, Carsten G, Rohrbach, Marianne
Publicado 2018

Prostate Cancer Risks for Male BRCA1 [Image: see text] and BRCA2 Mutation Carriers: A Prospective Cohort Study()

por Nyberg, Tommy, Frost, Debra, Barrowdale, Daniel, Evans, D. Gareth, Bancroft, Elizabeth, Adlard, Julian, Ahmed, Munaza, Barwell, Julian, Brady, Angela F., Brewer, Carole, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Eason, Jacqueline, Gregory, Helen, Henderson, Alex, Izatt, Louise, Kennedy, M. John, Miller, Claire, Morrison, Patrick J., Murray, Alex, Ong, Kai-Ren, Porteous, Mary, Pottinger, Caroline, Rogers, Mark T., Side, Lucy, Snape, Katie, Walker, Lisa, Tischkowitz, Marc, Eeles, Rosalind, Easton, Douglas F., Antoniou, Antonis C.
Publicado 2020

Prostate Cancer Risk by BRCA2 Genomic Regions

por Nyberg, Tommy, Frost, Debra, Barrowdale, Daniel, Evans, D. Gareth, Bancroft, Elizabeth, Adlard, Julian, Ahmed, Munaza, Barwell, Julian, Brady, Angela F., Brewer, Carole, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Eason, Jacqueline, Gregory, Helen, Henderson, Alex, Izatt, Louise, Kennedy, M. John, Miller, Claire, Morrison, Patrick J., Murray, Alex, Ong, Kai-Ren, Porteous, Mary, Pottinger, Caroline, Rogers, Mark T., Side, Lucy, Snape, Katie, Tripathi, Vishakha, Walker, Lisa, Tischkowitz, Marc, Eeles, Rosalind, Easton, Douglas F., Antoniou, Antonis C.
Publicado 2020

Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study

por Girardi, Fabio, Barnes, Daniel R, Barrowdale, Daniel, Frost, Debra, Brady, Angela F, Miller, Claire, Henderson, Alex, Donaldson, Alan, Murray, Alex, Brewer, Carole, Pottinger, Caroline, Evans, D Gareth, Eccles, Diana, Lalloo, Fiona, Gregory, Helen, Cook, Jackie, Eason, Jacqueline, Adlard, Julian, Barwell, Julian, Ong, Kai Ren, Walker, Lisa, Izatt, Louise, Side, Lucy E, Kennedy, M John, Tischkowitz, Marc, Rogers, Mark T, Porteous, Mary E, Morrison, Patrick J, Eeles, Ros, Davidson, Rosemarie, Snape, Katie, Easton, Douglas F, Antoniou, Antonis C
Publicado 2018

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

por Stals, Karen L., Wakeling, Matthew, Baptista, Júlia, Caswell, Richard, Parrish, Andrew, Rankin, Julia, Tysoe, Carolyn, Jones, Garan, Gunning, Adam C., Lango Allen, Hana, Bradley, Lisa, Brady, Angela F., Carley, Helena, Carmichael, Jenny, Castle, Bruce, Cilliers, Deirdre, Cox, Helen, Deshpande, Charu, Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Fry, Andrew E., Fryer, Alan, Holder, Muriel, Homfray, Tessa, Kivuva, Emma, McKay, Victoria, Newbury‐Ecob, Ruth, Parker, Michael, Savarirayan, Ravi, Searle, Claire, Shannon, Nora, Shears, Deborah, Smithson, Sarah, Thomas, Ellen, Turnpenny, Peter D., Varghese, Vinod, Vasudevan, Pradeep, Wakeling, Emma, Baple, Emma L., Ellard, Sian
Publicado 2017

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

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

por Faundes, Víctor, Goh, Stephanie, Akilapa, Rhoda, Bezuidenhout, Heidre, Bjornsson, Hans T., Bradley, Lisa, Brady, Angela F., Brischoux-Boucher, Elise, Brunner, Han, Bulk, Saskia, Canham, Natalie, Cody, Declan, Dentici, Maria Lisa, Digilio, Maria Cristina, Elmslie, Frances, Fry, Andrew E., Gill, Harinder, Hurst, Jane, Johnson, Diana, Julia, Sophie, Lachlan, Katherine, Lebel, Robert Roger, Byler, Melissa, Gershon, Eric, Lemire, Edmond, Gnazzo, Maria, Lepri, Francesca Romana, Marchese, Antonia, McEntagart, Meriel, McGaughran, Julie, Mizuno, Seiji, Okamoto, Nobuhiko, Rieubland, Claudine, Rodgers, Jonathan, Sasaki, Erina, Scalais, Emmanuel, Scurr, Ingrid, Suri, Mohnish, van der Burgt, Ineke, Matsumoto, Naomichi, Miyake, Noriko, Benoit, Valérie, Lederer, Damien, Banka, Siddharth
Publicado 2021

Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia

por Muir, Alison M., Gardner, Jennifer F., van Jaarsveld, Richard H., de Lange, Iris M., van der Smagt, Jasper J., Wilson, Golder N., Dubbs, Holly, Goldberg, Ethan M., Zitano, Lia, Bupp, Caleb, Martinez, Jose, Srour, Myriam, Accogli, Andrea, Alhakeem, Afnan, Meltzer, Meira, Gropman, Andrea, Brewer, Carole, Caswell, Richard C., Montgomery, Tara, McKenna, Caoimhe, McKee, Shane, Powell, Corinna, Vasudevan, Pradeep C., Brady, Angela F., Joss, Shelagh, Tysoe, Carolyn, Noh, Grace, Tarnopolsky, Mark, Brady, Lauren, Zafar, Muhammad, Schrier Vergano, Samantha A., Murray, Brianna, Sawyer, Lindsey, Hainline, Bryan E., Sapp, Katherine, DeMarzo, Danielle, Huismann, Darcy J., Wentzensen, Ingrid M., Schnur, Rhonda E., Monaghan, Kristin G., Juusola, Jane, Rhodes, Lindsay, Dobyns, William B., Lecoquierre, Francois, Goldenberg, Alice, Polster, Tilman, Axer-Schaefer, Susanne, Platzer, Konrad, Klöckner, Chiara, Hoffman, Trevor L., MacArthur, Daniel G., O’Leary, Melanie C., VanNoy, Grace E., England, Eleina, Varghese, Vinod C., Mefford, Heather C.
Publicado 2021

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

por Tenney, Alan P., Di Gioia, Silvio Alessandro, Webb, Bryn D., Chan, Wai-Man, de Boer, Elke, Garnai, Sarah J., Barry, Brenda J., Ray, Tammy, Kosicki, Michael, Robson, Caroline D., Zhang, Zhongyang, Collins, Thomas E., Gelber, Alon, Pratt, Brandon M., Fujiwara, Yuko, Varshney, Arushi, Lek, Monkol, Warburton, Peter E., Van Ryzin, Carol, Lehky, Tanya J., Zalewski, Christopher, King, Kelly A., Brewer, Carmen C., Thurm, Audrey, Snow, Joseph, Facio, Flavia M., Narisu, Narisu, Bonnycastle, Lori L., Swift, Amy, Chines, Peter S., Bell, Jessica L., Mohan, Suresh, Whitman, Mary C., Staffieri, Sandra E., Elder, James E., Demer, Joseph L., Torres, Alcy, Rachid, Elza, Al-Haddad, Christiane, Boustany, Rose-Mary, Mackey, David A., Brady, Angela F., Fenollar-Cortés, María, Fradin, Melanie, Kleefstra, Tjitske, Padberg, George W., Raskin, Salmo, Sato, Mario Teruo, Orkin, Stuart H., Parker, Stephen C. J., Hadlock, Tessa A., Vissers, Lisenka E. L. M., van Bokhoven, Hans, Jabs, Ethylin Wang, Collins, Francis S., Pennacchio, Len A., Manoli, Irini, Engle, Elizabeth C.
Publicado 2023