Targeting cancer-cell mitochondria and metabolism to improve radiotherapy response von McCann, Emma, O'Sullivan, Jacintha, Marcone, Simone

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"Objectively terrifying": a qualitative study of youth's experiences of transitions out of child and adolescent mental health services at age 18 von Cleverley, Kristin, Lenters, Lindsey, McCann, Emma

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Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE von MAVADDAT, Nasim, PEOCK, Susan, DAVIDSON, Rosemarie, ECCLES, Diana, COLE, Trevor, COOK, Jackie, BREWER, Carole, TISCHKOWITZ, Marc, DOUGLAS, Fiona, HODGSON, Shirley, WALKER, Lisa, PORTEOUS, Mary E, FROST, Debra, MORRISON, Patrick J, SIDE, Lucy E, KENNEDY, M. John, HOUGHTON, Catherine, DONALDSON, Alan, ROGERS, Mark T, DORKINS, Huw, MIEDZYBRODZKA, Zosia, GREGORY, Helen, EASON, Jacqueline, ELLIS, Steve, BARWELL, Julian, MCCANN, Emma, MURRAY, Alex, ANTONIOU, Antonis C, EASTON, Douglas F, PLATTE, Radka, FINEBERG, Elena, EVANS, D. Gareth, IZATT, Louise, EELES, Rosalind A, ADLARD, Julian

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Engaging young people within a collaborative knowledge mobilization network: Development and evaluation von Halsall, Tanya, McCann, Emma, Armstrong, Julia

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The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care von Wilson, Brian T., Stark, Zornitza, Sutton, Ruth E., Danda, Sumita, Ekbote, Alka V., Elsayed, Solaf M., Gibson, Louise, Goodship, Judith A., Jackson, Andrew P., Te Keng, Wee ik, King, Mary D., McCann, Emma, Motojima, Toshino, Murray, Jennifer E., Omata, Taku, Pilz, Daniela, Pope, Kate, Sugita, Katsuo, White, Susan M., Wilson, Ian J.

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Mixed-methods study protocol for an evaluation of the mental health transition navigator model in child and adolescent mental health services: the Navigator Evaluation Advancing Tr... von Cleverley, Kristin, Stevens, Katye, Davies, Julia, McCann, Emma, Ashley, Tracy, Brathwaite, Daneisha, Gebreyohannes, Mana, Nasir, Saba, O"Reilly, Katelyn, Bennett, Kathryn J, Brennenstuhl, Sarah, Charach, Alice, Henderson, Joanna, Jeffs, Lianne, Korczak, Daphne J, Monga, Suneeta, de Oliveira, Claire, Szatmari, Peter

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Automatic Detection and Distinction of Retinal Vessel Bifurcations and Crossings in Colour Fundus Photography von Pratt, Harry, Williams, Bryan, Ku, Jae, Vas, Charles, McCann, Emma, Al-Bander, Baidaa, Zhao, Yitian, Coenen, Frans, Zheng, Yalin

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Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations von Huang-Doran, Isabel, Tomlinson, Patsy, Payne, Felicity, Gast, Alexandra, Sleigh, Alison, Bottomley, William, Harris, Julie, Daly, Allan, Rocha, Nuno, Rudge, Simon, Clark, Jonathan, Kwok, Albert, Romeo, Stefano, McCann, Emma, Müksch, Barbara, Dattani, Mehul, Zucchini, Stefano, Wakelam, Michael, Foukas, Lazaros C, Savage, David B, Murphy, Rinki, O'Rahilly, Stephen, Barroso, Inês, Semple, Robert K

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WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations von Suri, Mohnish, Kelehan, Peter, O'Neill, David, Vadeyar, Shantala, Grant, Judith, Ahmed, S. Faisal, Tolmie, John, McCann, Emma, Lam, Wayne, Smith, Shirley, FitzPatrick, David, Hastie, Nicholas D., Reardon, William

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Engaging youth in research planning, design and execution: Practical recommendations for researchers von Hawke, Lisa D., Relihan, Jacqueline, Miller, Joshua, McCann, Emma, Rong, Jessica, Darnay, Karleigh, Docherty, Samantha, Chaim, Gloria, Henderson, Joanna L.

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Is NIPA1-associated hereditary spastic paraplegia always ‘pure’? Further evidence of motor neurone disease and epilepsy as rare manifestations von Tanti, Matthew, Cairns, Diane, Mirza, Nasir, McCann, Emma, Young, Carolyn

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2412 Monoallelic NEK8-related polycystic kidney disease in an Irish ADPKD cohort von Elhassan, Elhussein A E, Sarihan, Sahin, Osman, Shohdan M, Mcanallen, Susan, Teltsh, Omri, Sweeney, Clodagh, Mccann, Emma, Benson, Katherine, Cavalleri, Gianpiero L, Conlon, Peter J

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Prioritizing core components of successful transitions from child to adult mental health care: a national Delphi survey with youth, caregivers, and health professionals von Cleverley, Kristin, McCann, Emma, O’Brien, David, Davies, Julia, Bennett, Kathryn, Brennenstuhl, Sarah, Courey, Lynn, Henderson, Joanna, Jeffs, Lianne, Miller, Joshua, Pignatiello, Tony, Rong, Jessica, Rowland, Emily, Stevens, Katye, Szatmari, Peter

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De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment von Rodger, Catherine, Flex, Elisabetta, Allison, Rachel J., Sanchis-Juan, Alba, Hasenahuer, Marcia A., Cecchetti, Serena, French, Courtney E., Edgar, James R., Carpentieri, Giovanna, Ciolfi, Andrea, Pantaleoni, Francesca, Bruselles, Alessandro, Onesimo, Roberta, Zampino, Giuseppe, Marcon, Francesca, Siniscalchi, Ester, Lees, Melissa, Krishnakumar, Deepa, McCann, Emma, Yosifova, Dragana, Jarvis, Joanna, Kruer, Michael C., Marks, Warren, Campbell, Jonathan, Allen, Louise E., Gustincich, Stefano, Raymond, F. Lucy, Tartaglia, Marco, Reid, Evan

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Pathogenicity and selective constraint on variation near splice sites von Lord, Jenny, Gallone, Giuseppe, Short, Patrick J, McRae, Jeremy F, Ironfield, Holly, Wynn, Elizabeth H, Gerety, Sebastian S, He, Liu, Kerr, Bronwyn, Johnson, Diana S, McCann, Emma, Kinning, Esther, Flinter, Frances, Temple, I Karen, Clayton-Smith, Jill, McEntagart, Meriel, Lynch, Sally Ann, Joss, Shelagh, Douzgou, Sofia, Dabir, Tabib, Clowes, Virginia, McConnell, Vivienne P M, Lam, Wayne, Wright, Caroline F, FitzPatrick, David R, Firth, Helen V, Barrett, Jeffrey C, Hurles, Matthew E

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An Argument for More High-Quality Research Focused on Mental Health in the Post-Secondary Context von Byrom, Nicola, Pointon-Haas, Julia, Upsher, Rebecca, Iorfino, Frank, McKenna, Sarah, McCann, Emma, Priestley, Michael, Slack, Hannah Rachael, Cleverley, Kristin

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An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy von Weedon, Michael N, Ellard, Sian, Prindle, Marc J, Caswell, Richard, Allen, Hana Lango, Oram, Richard, Godbole, Koumudi, Yajnik, Chittaranjan S, Sbraccia, Paolo, Novelli, Giuseppe, Turnpenny, Peter, McCann, Emma, Goh, Kim Jee, Wang, Yukai, Fulford, Jonathan, McCulloch, Laura J, Savage, David B, O'Rahilly, Stephen, Kos, Katarina, Loeb, Lawrence A, Semple, Robert K, Hattersley, Andrew T

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Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families von Jain, Vani, Foo, Seow Hoong, Chooi, Stephen, Moss, Celia, Goodwin, Richard, Berland, Siren, Clarke, Angus J, Davies, Sally J, Corrin, Sian, Murch, Oliver, Doyle, Samantha, Graham, Gail E, Greenhalgh, Lynn, Holder, Susan E, Johnson, Diana, Kumar, Ajith, Ladda, Roger L, Sell, Susan, Begtrup, Amber, Lynch, Sally A, McCann, Emma, Østern, Rune, Pottinger, Caroline, Splitt, Miranda, Fry, Andrew E

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Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non‐syndromic sagittal and metopic craniosynostosis von Walton, Isaac S., McCann, Emma, Weber, Astrid, Morton, Jenny E. V., Noons, Peter, Wilson, Louise C., Ching, Rosanna C., Cilliers, Deirdre, Johnson, David, Phipps, Julie M., Shears, Deborah J., Thomas, Gregory P. L., Wall, Steven A., Twigg, Stephen R. F., Wilkie, Andrew O. M.

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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design von Tolonen, Jussi Pekka, Parolin Schnekenberg, Ricardo, McGowan, Simon, Sims, David, McEntagart, Meriel, Elmslie, Frances, Shears, Debbie, Stewart, Helen, Tofaris, George K., Dabir, Tabib, Morrison, Patrick J., Johnson, Diana, Hadjivassiliou, Marios, Ellard, Sian, Shaw‐Smith, Charles, Znaczko, Anna, Dixit, Abhijit, Suri, Mohnish, Sarkar, Ajoy, Harrison, Rachel E., Jones, Gabriela, Houlden, Henry, Ceravolo, Giorgia, Jarvis, Joanna, Williams, Jonathan, Shanks, Morag E., Clouston, Penny, Rankin, Julia, Blumkin, Lubov, Lerman‐Sagie, Tally, Ponger, Penina, Raskin, Salmo, Granath, Katariina, Uusimaa, Johanna, Conti, Hector, McCann, Emma, Joss, Shelagh, Blakes, Alexander J.M., Metcalfe, Kay, Kingston, Helen, Bertoli, Marta, Kneen, Rachel, Lynch, Sally Ann, Martínez Albaladejo, Inmaculada, Moore, Austen Peter, Jones, Wendy D., Becker, Esther B.E., Németh, Andrea H.

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