Deep learning-based quantification of osteonecrosis using magnetic resonance images in Gaucher disease

Authors: Yu, Boliang, Whitmarsh, Tristan, Riede, Philipp, McDonald, Scott, Kaggie, Joshua D., Cox, Timothy M., Poole, Kenneth E.S., Deegan, Patrick

Source: In Bone September 2024 186

Paracetamol toxicity in classic homocystinuria: Effect of N‐acetylcysteine on total homocysteine

Authors: Elkhateeb, Nour, Hyde, Sarah, Hogg, Sarah L., Allsop, Daniel, Shankar, Arun, Deegan, Patrick, Tan, Chong Y.

Source: JIMD reports. 64(3):238-245

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100182203381.0x000001&indx=1&recIds=ETOCvdc_100182203381.0x000001

Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study

Authors: Deegan, Patrick B., Goker-Alpan, Ozlem, Geberhiwot, Tarekegn, Hopkin, Robert J., Lukina, Elena, Tylki-Szymanska, Anna, Zaher, Atef, Sensinger, Charlotte, Gaemers, Sebastiaan J.M., Modur, Vijay, Thurberg, Beth L., Sharma, Jyoti, Najafian, Behzad, Mauer, Michael, DasMahapatra, Pronabesh, Wilcox, William R., Germain, Dominique P.

Source: In Molecular Genetics and Metabolism February 2023 138(2)

Clinical management of female patients with Fabry disease based on expert consensus.

Authors: Brand, Eva, Linhart, Aleš, Deegan, Patrick, Jurcut, Ruxandra, Pisani, Antonio, Torra, Roser, Feldt-Rasmussen, Ulla

Source: Orphanet Journal of Rare Diseases; 1/7/2025, Vol. 20 Issue 1, p1-9, 9p

Subject Terms: ANGIOKERATOMA corporis diffusum, PSYCHOTHERAPY, ENZYME replacement therapy, LYSOSOMAL storage diseases, TREATMENT effectiveness

Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

Authors: Sebok, Agnes, Pestronk, Alan, Dominovic-Kovacevic, Aleksandra, Khan, Aneal, Koritnik, Blaž, Tard, Celine, Lindberg, Christopher, Quinn, Colin, Kornblum, Cornelia, Eldridge, Crystal, Bodkin, Cynthia, Reyes-Leiva, David, Hughes, Derralynn, Stefanescu, Ela, SALORT-CAMPANA, Emmanuelle, Butler, Ernest, Bouhour, Francoise, Kim, Gee, Konstantinos Papadimas, George, Parenti, Giancarlo, Bartosik-Psujek, Halina, Kushlaf, Hani, Akihiro, Hashiguchi, Lau, Heather, Pedro, Helio, Andersen, Henning, Amartino, Hernan, Shiraishi, Hideaki, Kobayashi, Hiroshi, Tarnev, Ivaylo, Vengoechea, Jaime, Avelar, Jennifer, Shin, Jin-Hong, Cauci, Jonathan, Alonso-Pérez, Jorge, Janszky, Jozsef, Berthy, Julie, Gutschmidt, Kristina, Claeys, Kristl, Judit Molnar, Maria, Wencel, Marie, Tarnopolsky, Mark, Dimachkie, Mazen, Tchan, Michel, Freimer, Miriam, Longo, Nicola, Vidal-Fernandez, Nuria, Musumeci, Olimpia, Goker-Alpan, Ozlem, Deegan, Patrick, Clemens, Paula R., Roxburgh, Richard, Henderson, Robert, Hopkin, Robert, Sacconi, Sabrina, Fecarotta, Simona, Attarian, Shahram, Wenninger, Stephan, Dearmey, Stephanie, Hiwot, Tarekegn, Burrow, Thomas, Ruck, Tobias, Sawada, Tomo, Laszlo, Vescei, Löscher, Wolfgang, Chien, Yin-Hsiu, Schoser, Benedikt ^{*, *}, Roberts, Mark ^*, Byrne, Barry J, Sitaraman, Sheela, Jiang, Hai, Laforêt, Pascal, Toscano, Antonio, Castelli, Jeff, Díaz-Manera, Jordi, Goldman, Mitchell, van der Ploeg, Ans T, Bratkovic, Drago, Kuchipudi, Srilakshmi, Mozaffar, Tahseen ^†, Kishnani, Priya S ^†

Source: In The Lancet Neurology December 2021 20(12):1027-1037

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

Authors: Behin, Anthony, Boentert, Matthias, Carvalho, Gerson, Chahin, Nizar, Charrow, Joel, Deegan, Patrick, Durmus Tekce, Hacer, Duval, Fanny, Genge, Angela, Gutmann, Ludwig, Henderson, Robert D, Hennermann, Julia B, Hiwot, Tarekegn, Hughes, Derralynn, Karaa, Amel, Karam, Chafic, Kautzky-Willer, Alexandra, Komaki, Hirofumi, Laforet, Pascal, Longo, Nicola, Malinova, Vera, Maré, Ricardo, Maxit, Clarisa, Mengel, Eugen, Moggio, Maurizio Gualtiero, Molnár, Mária Judit, Mongini, Tiziana Enrica, Nadaj-Pakleza, Aleksandra, Nascimento Osorio, Andres, Noury, Jean-Baptiste, Oliveira, Acary Souza Bulle, Parman, Yesim, Pena, Loren, Remiche, Gauthier, Sciacco, Monica, Shieh, Perry B, Smith, Cheryl, Stulnig, Thomas, Taithe, Frederic, Tard, Céline, Tarnopolsky, Mark, Vorgerd, Matthias, Whitley, Chester, Young, Peter, Alonso-Pérez, Jorge, Altemus, Patricia, Aubé-Nathier, Anne-Catherine, Avelar, Jennifer B, Bailey, Carrie, Bekircan-Kurt, Can Ebru, Billy, Jenny, Boschi, Silvia, Brown, Kathryn E, Carrera Garcia, Laura, Chase, Lauren, Cirne, Hamilton, Danjoux, Loïc, Davion, Jean-Baptiste, DeArmey, Stephanie, Fedotova, Ekaterina, Gandolfo, Eve, Grosz, Zoltan, Guellec, Dewi, Guettsches, Anne-Katrin, Guglieri, Michela, Hatcher, Erin, Helms, Sina, Hufgard-Leitner, Miriam, Klyushnikov, Sergey A., Langton, Jacqui, Linková, Lenka, Mavroudakis, Nicolas, Mazurová, Stella, Mori, Madoka, Müller-Miny, Louisa, Musumeci, Olimpia, Nance, Christopher S, Natera-de Benito, Daniel, Neel, Robert, Niizawa, Gabriela A, Noll, Lauren, Ortega, Erik, Pasnoor, Mamatha, Pautot, Vivien, Potulska-Chromik, Anna, Pugliese, Alessia, Questienne, Claire, Ramos Lopes, Margarida, Reyes-Leiva, David, Riedl, Michaela, Rugiero, Marcelo Francisco, Salort-Campana, Emmanuelle, Sgobbi Souza, Paulo Victor, Sole, Guilhem, Solera, Luca, Souto Lopes, Suzara, Specht, Sabine, Statland, Jeffrey, Swenson, Andrea, Tan, Chong Yew, Tizon, Sónia, van der Beek, N A M E, van Kooten, Harmke A., Wencel, Marie, Wenninger, Stephan, Zagnoli, Fabien, Diaz-Manera, Jordi ^{*, *}, Kishnani, Priya S ^*, Kushlaf, Hani, Ladha, Shafeeq, Mozaffar, Tahseen, Straub, Volker, Toscano, Antonio, van der Ploeg, Ans T, Berger, Kenneth I, Clemens, Paula R, Chien, Yin-Hsiu, Day, John W, Illarioshkin, Sergey, Roberts, Mark, Attarian, Shahram, Borges, Joao Lindolfo, Bouhour, Francoise, Choi, Young Chul, Erdem-Ozdamar, Sevim, Goker-Alpan, Ozlem, Kostera-Pruszczyk, Anna, Haack, Kristina An, Hug, Christopher, Huynh-Ba, Olivier, Johnson, Judith, Thibault, Nathan, Zhou, Tianyue, Dimachkie, Mazen M ^†, Schoser, Benedikt ^†

Source: In The Lancet Neurology December 2021 20(12):1012-1026

Atypical presentation of late-onset Sandhoff disease: a case report (English)

Authors: Salamon, András, Szpisjak, László, Zádori, Dénes, Lénárt, István, Maróti, Zoltán, Kalmár, Tibor, Brierley, Charlotte M. H., Deegan, Patrick B., Klivényi, Péter

Source: Ideggyógyászati szemle. 74(11/12):425-429

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN627900902&indx=1&recIds=ETOCRN627900902

Changes in Angiogenesis and Bone Turnover Markers in Patients with Gaucher Disease Developing Osteonecrosis.

Authors: D'Amore, Simona, Poole, Kenneth Eric, Ramaswami, Uma, Hughes, Derralynn, Page, Kathleen, Solimando, Antonio Giovanni, Vacca, Angelo, Cox, Timothy Martin, Deegan, Patrick

Source: Metabolites (2218-1989); Nov2024, Vol. 14 Issue 11, p601, 20p

Subject Terms: RECEIVER operating characteristic curves, GAUCHER'S disease, BONE remodeling, MATRIX metalloproteinases, BONE diseases

Long-term safety and efficacy of pegunigalsidase alfa administered every 4 weeks in patients with Fabry disease: Two-year interim results from the ongoing phase 3 BRIGHT51 open-label extension study

Authors: Bernat, John, Holida, Myrl D., Longo, Nicola, Goker-Alpan, Ozlem, Wallace, Eric, Deegan, Patrick B., Tøndel, Camilla, Eyskens, Francois J., Feldt-Rasmussen, Ulla, Hughes, Derralynn, Pisani, Antonio, Rocco, Rossana, Almon, Einat Brill, Alon, Sari, Chertkoff, Raul, Warnock, David G., Waldek, Stephen, Wilcox, William R.

Source: Molecular genetics and metabolism. 138(2)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100180905743.0x000001&indx=1&recIds=ETOCvdc_100180905743.0x000001

STAAR, a phase I/II study of isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Dose escalation phase results

Authors: Hopkin, Robert J., Ganesh, Jaya, Deegan, Patrick, Goker-Alpan, Ozlem, Bernat, John, Wilcox, William R., Pahl, Madeleine V., Whitley, Chester B., Hughes, Derralynn, Nicholls, Kathleen, Cao, Liching, Chen, Michael, Shiue, Lisa H., Bowden, Emma, Jaggumantri, Sravan, Passalacqua, Cristobal, Souberbielle, Bernard, Cockroft, Bettina M.

Source: Molecular genetics and metabolism. 138(2)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100180903306.0x000001&indx=1&recIds=ETOCvdc_100180903306.0x000001

Lyso-Gb1 as a biomarker of the real-world situation in Gaucher disease: Comparative data from the Gaucher Outcome Survey (GOS) in ERT-treated and untreated patients

Authors: Zimran, Ari, Revel-Vilk, Shoshana, Dinur, Tama, Istaiti, Majdolen Joleen, Botha, Jaco, Gill, Aidan, Giraldo, Pilar, Deegan, Patrick B., Dahl, Stephan vom

Source: Molecular genetics and metabolism. 138(2)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100180900983.0x000001&indx=1&recIds=ETOCvdc_100180900983.0x000001

A case of mesenteric panniculitis in a patient with Tangier disease

Authors: Townson, Adam T., Malam, Yogeshkumar, Surman, Katy, Chhabra, Shaan, Tan, Chong Yew, Deegan, Patrick, Mathews, John

Source: Journal of clinical lipidology. 16(2):164-166

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100168211901.0x000001&indx=1&recIds=ETOCvdc_100168211901.0x000001

Post-baseline outcomes of the UK Early Access to Medicines Scheme registry for cipaglucosidase alfa plus miglustat in late-onset Pompe disease

Authors: Roberts, Mark ^a, Cole, Duncan ^b, Deegan, Patrick ^c, Geberhiwot, Tarekegn ^d, Hughes, Derralynn ^e, Murphy, Elaine ^f, Sharma, Reena ^g, Jain, Vipul ^h, Moffat, Elizabeth ⁱ, Rutecki, Jasmine ^h, Clarke, Sophie ⁱ, Lachmann, Robin ^f

Source: In Molecular Genetics and Metabolism February 2025 144(2)

Isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Updated results from an ongoing phase 1/2 study (STAAR)

Authors: Hughes, Derralynn ^a, Wilcox, William ^b, Hopkin, Robert J. ^c, Ganesh, Jaya ^d, Bernat, John ^e, Goker-Alpan, Ozlem ^f, Nicholls, Kathy ^g, Deegan, Patrick ^h, Pahl, Madeleine ⁱ, Whitley, Chester B. ^j, Chen, Michael ^k, Cao, Liching ^k, Schreeb, Katharina H. ^k

Source: In Molecular Genetics and Metabolism February 2025 144(2)

Reaching consensus on comprehensive and achievable monitoring for adults with late-onset Pompe disease in the UK

Authors: Deegan, Patrick ^a, Diaz-Manera, Jordi ^b, Geberhiwot, Tarekegn ^c, Hughes, Derralynn ^d, James, Meredith K. ^b, Martinez, David Moreno ^d, Morris, Elizabeth ^a, Osman, Azza ^e, Polkey, Michael I. ^f, Roberts, Mark ^g, Lachmann, Robin ^h

Source: In Molecular Genetics and Metabolism February 2025 144(2)

Algorithmic case finding approaches for Gaucher disease type 1 in primary care records

Authors: Deegan, Patrick B. ^a, Grant, Calum ^b, Morris, Elizabeth ^c, Dubis, Rand ^b, Worker, Amanda ^b, Mahon, Hadley ^b, Fish, Peter ^b

Source: In Molecular Genetics and Metabolism February 2025 144(2)

Extending the interval between pegunigalsidase alfa infusions in patients with Fabry disease: Five-year interim results from the ongoing BRIGHT51 study

Authors: Bernat, John A. ^a, Holida, Myrl ^a, Waldek, Stephen ^b, Wilcox, William R. ^c, Longo, Nicola ^d, Goker-Alpan, Ozlem ^e, Wallace, Eric ^f, Deegan, Patrick ^g, Tøndel, Camilla ^h, Eyskens, Francois ⁱ, Feldt-Rasmussen, Ulla ^j, Hughes, Derralynn ^k, Pisani, Antonio ^l, Mehta, Ankit ^m, Nedd, Khan ⁿ, Warnock, David G. ^f, Piotti, Giovanni ^o, Wang, Meng ^p, Almon-Brill, Einat ^q, Alon, Sari ^q, Chertkoff, Raul ^q, Linhart, Aleš ^r

Source: In Molecular Genetics and Metabolism February 2025 144(2)

Mechanistic convergence and shared therapeutic targets in Niemann‐Pick disease

Authors: Colaco, Alexandria, Kaya, Ecem, Adriaenssens, Elias, Davis, Lianne C., Zampieri, Stefania, Fernández‐Suárez, María E., Tan, Chong Y., Deegan, Patrick B., Porter, Forbes D., Galione, Antony, Bembi, Bruno, Dardis, Andrea, Platt, Frances M.

Source: Journal of inherited metabolic disease. 43(3):574-585

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100116117173.0x000001&indx=1&recIds=ETOCvdc_100116117173.0x000001

Constraining the number of compact remnants near Sgr A*

Authors: Deegan, Patrick, Nayakshin, Sergei

Source: Mon.Not.Roy.Astron.Soc.377:897-904,2007

Subject Terms: Astrophysics

Access URL: http://arxiv.org/abs/astro-ph/0611524

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

Authors: Aitman, Timothy, Alachkar, Hana, Ali, Sonia, Allen, Louise, Allsup, David, Ambegaonkar, Gautum, Anderson, Julie, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Arumugakani, Gururaj, Ashford, Sofie, Astle, William, Attwood, Antony, Austin, Steve, Bacchelli, Chiara, Bakchoul, Tamam, Bariana, Tadbir K., Baxendale, Helen, Bennett, David, Bethune, Claire, Bibi, Shahnaz, Bitner-Glindzicz, Maria, Bleda, Marta, Boggard, Harm, Bolton-Maggs, Paula, Booth, Claire, Bradley, John R., Brady, Angie, Brown, Matthew, Browning, Michael, Bryson, Christine, Burns, Siobhan, Calleja, Paul, Canham, Natalie, Carmichael, Jenny, Carss, Keren, Caulfield, Mark, Chalmers, Elizabeth, Chandra, Anita, Chinnery, Patrick, Chitre, Manali, Church, Colin, Clement, Emma, Clements-Brod, Naomi, Clowes, Virginia, Coghlan, Gerry, Collins, Peter, Cookson, Victoria, Cooper, Nichola, Corris, Paul, Creaser-Myers, Amanda, DaCosta, Rosa, Daugherty, Louise, Davies, Sophie, Davis, John, De Vries, Minka, Deegan, Patrick, Deevi, Sri V.V., Deshpande, Charu, Devlin, Lisa, Dewhurst, Eleanor, Dixon, Peter, Doffinger, Rainer, Dormand, Natalie, Drewe, Elizabeth, Edgar, David, Egner, William, Erber, Wendy N., Erwood, Marie, Everington, Tamara, Favier, Remi, Firth, Helen, Fletcher, Debra, Flinter, Frances, Frary, Amy, Freson, Kathleen, Furie, Bruce, Furnell, Abigail, Gale, Daniel, Gardham, Alice, Gattens, Michael, Ghali, Neeti, Ghataorhe, Pavandeep K., Ghurye, Rohit, Gibbs, Simon, Gilmour, Kimberley, Gissen, Paul, Goddard, Sarah, Gomez, Keith, Gordins, Pavel, Graf, Stefan, Gräf, Stefan, Greene, Daniel, Greenhalgh, Alan, Greinacher, Andreas, Grigoriadou, Sofia, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, Rosie, Haimel, Matthias, Halmagyi, Csaba, Hammerton, Tracey, Hart, Daniel, Hayman, Grant, Heemskerk, Johan W.M., Henderson, Robert, Hensiek, Anke, Henskens, Yvonne, Herwadkar, Archana, Holden, Simon, Holder, Muriel, Holder, Susan, Hu, Fengyuan, Huis in’t Veld, Anna, Huissoon, Aarnoud, Humbert, Marc, Hurst, Jane, James, Roger, Jolles, Stephen, Josifova, Dragana, Kazmi, Rashid, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kennedy, Fiona, Kiely, David, Kingston, Nathalie, Koziell, Ania, Krishnakumar, Deepa, Kuijpers, Taco W., Kuijpers, Taco, Kumararatne, Dinakantha, Kurian, Manju, Laffan, Michael A., Lambert, Michele P., Allen, Hana Lango, Lango-Allen, Hana, Lawrie, Allan, Lear, Sara, Lees, Melissa, Lentaigne, Claire, Liesner, Ri, Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena, Louka, Eleni, Machado, Rajiv, Ross, Rob Mackenzie, MacLaren, Robert, Maher, Eamonn, Maimaris, Jesmeen, Mangles, Sarah, Manson, Ania, Mapeta, Rutendo, Markus, Hugh S., Martin, Jennifer, Masati, Larahmie, Mathias, Mary, Matser, Vera, Maw, Anna, McDermott, Elizabeth, McJannet, Coleen, Meacham, Stuart, Meehan, Sharon, Megy, Karyn, Mehta, Sarju, Michaelides, Michel, Millar, Carolyn M., Moledina, Shahin, Moore, Anthony, Morrell, Nicholas, Mumford, Andrew, Murng, Sai, Murphy, Elaine, Nejentsev, Sergey, Noorani, Sadia, Nurden, Paquita, Oksenhendler, Eric, Othman, Shokri, Ouwehand, Willem H., Papadia, Sofia, Park, Soo-Mi, Parker, Alasdair, Pasi, John, Patch, Chris, Paterson, Joan, Payne, Jeanette, Peacock, Andrew, Peerlinck, Kathelijne, Penkett, Christopher J., Pepke-Zaba, Joanna, Perry, David, Perry, David J., Pollock, Val, Polwarth, Gary, Ponsford, Mark, Qasim, Waseem, Quinti, Isabella, Rankin, Stuart, Rankin, Julia, Raymond, F. Lucy, Rayner-Matthews, Paula, Rehnstrom, Karola, Reid, Evan, Rhodes, Christopher J., Richards, Michael, Richardson, Sylvia, Richter, Alex, Roberts, Irene, Rondina, Matthew, Rosser, Elisabeth, Roughley, Catherine, Roy, Noémi, Rue-Albrecht, Kevin, Samarghitean, Crina, Sanchis-Juan, Alba, Sandford, Richard, Santra, Saikat, Sargur, Ravishankar, Savic, Sinisa, Schotte, Gwen, Schulman, Sol, Schulze, Harald, Scott, Richard, Scully, Marie, Seneviratne, Suranjith, Sewell, Carrock, Shamardina, Olga, Shipley, Debbie, Simeoni, Ilenia, Sivapalaratnam, Suthesh, Smith, Kenneth G.C., Sohal, Aman, Southgate, Laura, Staines, Simon, Staples, Emily, Stark, Hannah, Stauss, Hans, Stein, Penelope, Stephens, Jonathan, Stirrups, Kathleen, Stock, Sophie, Suntharalingam, Jay, Talks, Kate, Tan, Yvonne, Thachil, Jecko, Thaventhiran, James, Thomas, Ellen, Thomas, Moira, Thompson, Dorothy, Thrasher, Adrian, Tischkowitz, Marc, Titterton, Catherine, Toh, Cheng-Hock, Toshner, Mark, Treacy, Carmen, Trembath, Richard, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Van Geet, Chris, Veltman, Marijke, Vogt, Julie, von Ziegenweldt, Julie, Vonk Noordegraaf, Anton, Wakeling, Emma, Wanjiku, Ivy, Warner, Timothy Q., Wassmer, Evangeline, Watkins, Hugh, Watt, Christopher, Webster, ndrew, Welch, Steve, Westbury, Sarah, Wharton, John, Whitehorn, Deborah, Wilkins, Martin, Willcocks, Lisa, Williamson, Catherine, Woods, Geoffrey, Woods, Geoff, Wort, John, Yeatman, Nigel, Yong, Patrick, Young, Tim, Yu, Ping, Whitworth, James, Smith, Philip S., Martin, Jose-Ezequiel, West, Hannah, Luchetti, Andrea, Rodger, Faye, Clark, Graeme, Penkett, Chris, Shakeel, Hassan, Ahmed, Munaza, Adlard, Julian, Barwell, Julian, Brewer, Carole, Casey, Ruth T., 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, Chen-Shtoyerman, Rakefet, Searle, Claire, Side, Lucy, Skytte, Anne-Bine, Snape, Katie, Woodward, Emma R., Tischkowitz, Marc D., Maher, Eamonn R.

Source: In The American Journal of Human Genetics 5 July 2018 103(1):3-18