Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS‐related disorders von Lok, Aishin, Fernandez‐Garcia, Miguel A., Taylor, Robert W., French, Courtney, MacFarland, Robert, Bodi, Istvan, Champion, Michael, Josifova, Dragana, Raymond, Frances Lucy, Iuso, Arcangela, Jungbluth, Heinz, Milan, Anna, Singh, Rahul R.

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Current controversies in prenatal diagnosis 2: should incidental findings arising from prenatal testing always be reported to patients?: Reporting incidental findings in prenatal d... von Bui, The-Hung, Raymond, Frances Lucy, Van den Veyver, Ignatia B.

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Current controversies in prenatal diagnosis 2: should incidental findings arising from prenatal testing always be reported to patients? von Bui, The-Hung, Raymond, Frances Lucy, Van den Veyver, Ignatia B.

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A family perspective of the value of a diagnosis for intellectual disability: experiences from a genetic research study von Statham, Helen, Ponder, Maggie, Richards, Martin, Hallowell, Nina, Raymond, Frances Lucy

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'Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health care von Clarke, Angus J, Cooper, David N, Krawczak, Michael, Tyler-Smith, Chris, Wallace, Helen M, Wilkie, Andrew O M, Raymond, Frances Lucy, Chadwick, Ruth, Craddock, Nick, John, Ros, Gallacher, John, Chiano, Mathias

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Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency von de la Morena-Barrio, Belén, Stephens, Jonathan, de la Morena-Barrio, María Eugenia, Stefanucci, Luca, Padilla, José, Miñano, Antonia, Gleadall, Nicholas, García, Juan Luis, López-Fernández, María Fernanda, Morange, Pierre-Emmanuel, Puurunen, Marja, Undas, Anetta, Vidal, Francisco, Raymond, Frances Lucy, Vicente, Vicente, Ouwehand, Willem H, Corral, Javier, Sanchis-Juan, Alba, NIHR BioResource

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Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders von Lok, Aishin, Fernandez-Garcia, Miguel A, Taylor, Robert W, French, Courtney, MacFarland, Robert, Bodi, Istvan, Champion, Michael, Josifova, Dragana, Raymond, Frances Lucy, Iuso, Arcangela, Jungbluth, Heinz, Milan, Anna, Singh, Rahul R

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'Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health care von Clarke, Angus J, Cooper, David N, Krawczak, Michael, Tyler-Smith, Chris, Wallace, Helen M, Wilkie, Andrew OM, Raymond, Frances Lucy, Chadwick, Ruth, Craddock, Nick, John, Ros, Gallacher, John, Chiano, Mathias

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Childhood intellectual disability and parents' mental health: integrating social, psychological and genetic influences von Baker, Kate, Devine, Rory T., Ng-Cordell, Elise, Raymond, F. Lucy, Hughes, Claire

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A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants von Chawner, Samuel J.R.A, Doherty, Joanne L, Anney, Richard J. L, Antshel, Kevin M, Bearden, Carrie E, Bernier, Raphael, Chung, Wendy K, Clements, Caitlin C, Curran, Sarah R, Cuturilo, Goran, Fiksinski, Ania M, Gallagher, Louise, Goin-Kochel, Robin P, Gur, Raquel E, Hanson, Ellen, Jacquemont, Sebastien, Kates, Wendy R, Kushan, Leila, Maillard, Anne M, McDonald-McGinn, Donna M, Mihaljevic, Marina, Miller, Judith S, Moss, Hayley, Pejovic-Milovancevic, Milica, Schultz, Robert T, Green-Snyder, LeeAnne, Vorstman, Jacob A, Wenger, Tara L, Hall, Jeremy, Owen, Michael J, van den Bree, Marianne B.M

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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease von Stephens, Jonathan, Dewhurst, Eleanor, Malka, Samantha, Plagnol, Vincent, Rizzo, Roberta, Scott, Richard H., Henderson, Robert H.H., MacLaren, Robert E., Paterson, Joan, Aitman, Timothy, Ali, Sonia, Ambegaonkar, Gautum, Arno, Gavin, Astle, William, Attwood, Antony, Bennett, David, Bitner-Glindzicz, Maria, Bleda, Marta, Boggard, Harm, Carss, Keren, Clements-Brod, Naomi, DaCosta, Rosa, De Vries, Minka, Dewhurst, Eleanor, Drewe, Elizabeth, Egner, William, Erber, Wendy N., Everington, Tamara, Fletcher, Debra, Freson, Kathleen, Gale, Daniel, Ghali, Neeti, Ghurye, Rohit, Gräf, Stefan, Greene, Daniel, Grigoriadou, Sofia, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, Rosie, Hammerton, Tracey, Heemskerk, Johan W.M., Holder, Muriel, Holder, Susan, Huissoon, Aarnoud, Hurst, Jane, Jolles, Stephen, Keeling, David, Kennedy, Fiona, Kiely, David, Lawrie, Allan, Lear, Sara, Lees, Melissa, Lentaigne, Claire, Lorenzo, Lorena, Mangles, Sarah, Mapeta, Rutendo, Masati, Larahmie, Mathias, Mary, Michaelides, Michel, Millar, Carolyn M., Moledina, Shahin, Moore, Anthony, Murng, Sai, Oksenhendler, Eric, Park, Soo-Mi, Patch, Chris, Paterson, Joan, Penkett, Christopher J., Pepke-Zaba, Joanna, Pollock, Val, Qasim, Waseem, Quinti, Isabella, Reid, Evan, Rondina, Matthew, Rosser, Elisabeth, Santra, Saikat, Sargur, Ravishankar, Savic, Sinisa, Scully, Marie, Sewell, Carrock, Smith, Kenneth, Southgate, Laura, Stauss, Hans, Stein, Penelope, Talks, Kate, Thomas, Ellen, Thrasher, Adrian, Tischkowitz, Marc, Titterton, Catherine, Turro, Ernest, von Ziegenweldt, Julie, Vonk Noordegraaf, Anton, Wakeling, Emma, Wanjiku, Ivy, Welch, Steve, Westbury, Sarah, Woods, Geoffrey, Yong, Patrick, Webster, Andrew R.

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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language von Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.

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‘We have been in lockdown since he was born’: a mixed methods exploration of the experiences of families caring for children with intellectual disability during the COVID-19 pandem... von Wolstencroft, Jeanne, Hull, Laura, Warner, Lauren, Akhtar, Tooba Nadeem, Mandy, William, Skuse, David, Baker, Kate, Dewhurst, Eleanor, Lafont, Amy, Lucy Raymond, F, Shirley, Terry, Tilley, Hayley, Timur, Husne, Titterton, Catherine, Walker, Neil, Wallwork, Sarah, Wicks, Francesca, Ye, Zheng, Erwood, Marie, Andrews, Sophie, Birch, Philippa, Bowen, Samantha, Bradley, Karen, Challenger, Aimee, Chawner, Samuel, Cuthbert, Andrew, Hall, Jeremy, Holmans, Peter, Law, Sarah, Lewis, Nicola, Morrison, Sinead, Moss, Hayley, Owen, Michael, Ray, Sinead, Sopp, Matthew, Tong, Molly, Bree, Marianne van den, Coscini, Nadia, Davies, Sarah, Denaxas, Spiros, Denyer, Hayley, Fatih, Nasrtullah, Juj, Manoj, Kerry, Ellie, Lucock, Anna, Printzlau, Frida, Srinivasan, Ramya, Walker, Susan, Watkins, Alice, Searle, Beverly, Pelling, Anna, Dean, John, Robertson, Lisa, Alan, Denise Williams, Lucy, Donaldson, Procter, Annie, Berg, Jonathan, Lampe, Anne, Rankin, Julia, Joss, Shelagh, Chitty, Lyn, Flinter, Frances, Holder, Muriel, Kraus, Alison, Barwell, Julian, Vasudevan, Pradeep, Weber, Astrid, Newman, William, Splitt, Miranda, Clowes, Virginia, Dijk, Fleur van, Harrison, Rachel, Kini, Usha, Quarrell, Oliver, Baralle, Diana, Mansour, Sahar, Crow, Yanick

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Three lessons for the COVID-19 response from pandemic HIV von Hargreaves, James, Davey, Calum, Hargreaves, James, Davey, Calum, Auerbach, Judith, Blanchard, Jamie, Bond, Virginia, Bonell, Chris, Burgess, Rochelle, Busza, Joanna, Colbourn, Tim, Cowan, Frances, Doyle, Aoife, Hakim, James, Hensen, Bernadette, Hosseinipour, Mina, Lin, Leesa, Johnson, Saul, Masuka, Nyasha, Mavhu, Webster, Mugurungi, Owen, Mukungunugwa, Solomon, Mushavi, Angela, Phillips, Andrew, Platt, Lucy, Prost, Audrey, Ruzagira, Eugene, Seeley, Janet, Taramusi, Isaac, Yekeye, Raymond

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Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients von Hexter, Adam, Jones, Adrian, Joe, Harry, Heap, Laura, Smith, Miriam J, Wallace, Andrew J, Halliday, Dorothy, Parry, Allyson, Taylor, Amy, Raymond, Lucy, Shaw, Adam, Afridi, Shazia, Obholzer, Rupert, Axon, Patrick, King, Andrew T, Friedman, Jan M, Evans, D Gareth R

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Estimation of HIV incidence from analysis of HIV prevalence patterns among female sex workers in Zimbabwe von Ali, M. Sanni, Wit, Mariken D.E., Chabata, Sungai T., Magutshwa, Sitholubuhle, Musemburi, Sithembile, Dirawo, Jeffrey, Rice, Brian, Platt, Lucy, Bansi-Matharu, Loveleen, Harriet, Jones, Mharadze, Tendayi, Chiyaka, Tarisai, Mushati, Phillis, Mugurungi, Owen, Yekeye, Raymond, Mpofu, Amon, Phillips, Andrew N., Cowan, Frances M., Hargreaves, James R.

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Estimation of HIV incidence from analysis of HIV prevalence patterns by age and years since starting sex work among female sex workers in Zimbabwe von Ali, M. Sanni, Wit, Mariken D.E., Chabata, Sungai T., Magutshwa, Sitholubuhle, Musemburi, Sithembile, Dirawo, Jeffrey, Rice, Brian, Platt, Lucy, Bansi-Matharu, Loveleen, Harriet, Jones, Mharadze, Tendayi, Chiyaka, Tarisai, Mushati, Phillis, Mugurungi, Owen, Yekeye, Raymond, Mpofu, Amon, Phillips, Andrew N., Cowan, Frances M., Hargreaves, James R.

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Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans von Al Turki, Saeed, Manickaraj, Ashok K., Mercer, Catherine L., Gerety, Sebastian S., Hitz, Marc-Phillip, Lindsay, Sarah, D’Alessandro, Lisa C.A., Swaminathan, G. Jawahar, Bentham, Jamie, Arndt, Anne-Karin, Louw, Jacoba, Breckpot, Jeroen, Gewillig, Marc, Thienpont, Bernard, Abdul-Khaliq, Hashim, Harnack, Christine, Hoff, Kirstin, Kramer, Hans-Heiner, Schubert, Stephan, Siebert, Reiner, Toka, Okan, Cosgrove, Catherine, Watkins, Hugh, Lucassen, Anneke M., O’Kelly, Ita M., Salmon, Anthony P., Bu’Lock, Frances A., Granados-Riveron, Javier, Setchfield, Kerry, Thornborough, Chris, Brook, J. David, Mulder, Barbara, Klaassen, Sabine, Bhattacharya, Shoumo, Devriendt, Koen, FitzPatrick, David R., Wilson, David I., Mital, Seema, Hurles, Matthew E.

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Estimation of HIV incidence from analysis of HIV prevalence patterns among female sex workers in Zimbabwe von Ali, M Sanni, Wit, Mariken DE, Chabata, Sungai T, Magutshwa, Sitholubuhle, Musemburi, Sithembile, Dirawo, Jeffrey, Rice, Brian, Platt, Lucy, Bansi-Matharu, Loveleen, Harriet, Jones, Mharadze, Tendayi, Chiyaka, Tarisai, Mushati, Phillis, Mugurungi, Owen, Yekeye, Raymond, Mpofu, Amon, Phillips, Andrew N, Cowan, Frances M, Hargreaves, James R

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Prognostic significance of nutritional markers in metastatic gastric and esophageal adenocarcinoma von Ma, Lucy X., Taylor, Kirsty, Espin‐Garcia, Osvaldo, Anconina, Reut, Suzuki, Chihiro, Allen, Michael J., Honorio, Marta, Bach, Yvonne, Allison, Frances, Chen, Eric X., Brar, Savtaj, Swallow, Carol J., Yeung, Jonathan, Darling, Gail E., Wong, Rebecca, Kalimuthu, Sangeetha N., Jang, Raymond W., Veit‐Haibach, Patrick, Elimova, Elena

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