부산대학교 도서관

Wakeling, Emma ; Baptiste, Rashida ; Rocca, Clarissa ; Hoskins, Bethan ; Clarkson, Christopher ; Chitty, Lyn S. ; Tucci, Arianna

In Genetics in Medicine January 2026 28(1)

Winterbottom, Jean; Simms, Roslyn J.; Caroli, Anna; Demoulin, Nathalie; Furlano, Monica; Pybus, Marc; Gansevoort, Ron; Meijer, Esther; Grall, A.; Moal, M.C.; Tanquerel, T.; Hanrotel, C.; Segalen, I.; Lanfranco, L.; C, Mesguen; A, Kersale; A, Capdeville; V, Huynh; Hourmant, M.; Dantal, J.; Giral, M.; Meurette, A.; Lino, M.; Garandeau, C.; Hodemon-Corne, B.; Allain-Launay, E.; Cantarovich, D.; Blancho, G.; Hristea, D.; Couvrat, G.; Fakhouri, F.; Lavainne, F.; Vercel, C.; Chapal, M.; Le Fur, A.; Gourraud, C.; Deltombe, C.; Vigneau, C.; Morin, M.P.; Le Pogamp, P.; Frouget, T.; Gie, S.; Rivalan, J.; Laruelle, E.; Richer, C.; Lorcy, N.; Golbin, L.; Terrasse, M.; Morice, S.; Brenier, H.; Michel, A.; Tomkiewicz, E.; Nguyen, Q.L.; Vabret, E.; Lavergne, A.; Pierre, E.; Chemouny, J.; Halimi, J.M.; Longuet, H.; Gatault, P.; Merieau, E.; Barbet, C.; Buchler, M.; Golea, G.; Ghouti, L.; Gautard, D.; Sautenet, B.; François, M.; Fournier, A.; Baron, C.; Salmon, C.; Rabot, N.; Prat, L.; Valentin, J.F.; Chevallier, E.; Birmele, B.; Genest, C.; Goin, N.; Goumard, A.; Bridoux, F.; Desport, E.; Thierry, A.; Ecotiere, L.; Touchard, G.; Belmouaz, M.; Javaugue, V.; Bauwens, M.; Fride-Leroy, F.; Goussard, G.; Bouteau, I.; Jacquemont, L.; Subra, J.F.; Augusto, J.F.; Duveau, A.; Besson, V.; Cousin, M.; Sayegh, J.; Onno, C.; Maghakian, M.N.; Demiselle, J.; Deschamps, C.; Garnier, A.S.; Guibert, F.; Planchais, M.; Charasse, C.; Stanescu, C.; Le Cacheux, P.; Baluta, S.; Leonetti, F.; Boulahrouz, R.; Ferrier, M.L.; Freguin, C.; Simon, A.; Potier, J.; Coulibaly, J.M.; Colombo, A.; Delezire, A.; Renaudineau, E.; Dolley-Hitze, T.; Perrichot, R.; Michez, E.; Mandart, L.; Menoyo, V.; Pincon, E.; Muresan, C.; Durand, P.Y.; Corlu, L.; Wegner, I.; Siohan, P.; Metes, I.; Guyon-Roger, T.; Wehbe, B.; Gueguen, L.; Drouet, C.; Loheac, C.; Sawadogo, T.; Le Guillou, A.; Le Jeune, M.; Beillard, G.; Lefevre, S.; Chamontin, C.; Georgescu, S.; Jousset, P.; Latif, R.; Massad, M.; Jaulin, J.P.; Querard, A.H.; Ottavioli, J.N.; Target, N.; Chapal, A.; Charpy, V.; Besnier, D.; Regnier-Le Coz, S.; Blanpain, A.; Durault, S.; Larmet, D.; Le Clech, A.; Pouteau, L.M.; Labatut, D.; Coindre, J.P.; Sigogne, M.; Piccoli, G.; Bachelet-Rousseau, C.; Delbes, S.; Fritz, O.; Pourreau, F.; Mzoughi, S.; Guillodo, M.P.; Gosselin, M.; Depraetre, P.; Strullu, B.; Chaffara, E.; Le Mee, M.; Terki, N.; Goulesque, K.; Benarbia, S.; Dimulescu, M.; Rifaat, M.; Duneau, G.; Legrand, D.; Georges, E.; Seret, G.; Babinet, F.; Lanoiselee, S.; Savoiu, C.; Testa, A.; Oancea, I.; Coupel, I.; Parahy, S.; Lefrancois, G.; Briand, E.; Bugnon, D.; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boustred, Christopher R.; Brittain, Helen; Chan, Georgia C.; Fowler, Tom; Giess, Adam; Hamblin, Angela; Hubbard, Tim J.P.; Jackson, Rob; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; McEntagart, Meriel; Minneci, Federico; Murugaesu, Nirupa; O’Donovan, Peter; Odhams, Chris A.; Pereira, Mariana Buongermino; Perez-Gil, Daniel; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thompson, Simon R.; Welland, Matthew J.; Williams, Eleanor; Boardman-Pretty, Freya; Moutsianas, Loukas; Mueller, Michael; Caulfield, Mark J.; Elgar, Greg; Henderson, Shirley; Jones, Louise J.; Kasperaviciute, Dalia; Need, Anna C.; Patch, Christine; Sosinsky, Alona; Thomas, Ellen R.A.; Tucci, Arianna; Witkowska, Katarzyna; Wood, Suzanne M.; Zagorec, Nikola ; Calamel, Alizée ; Delaporte, Margaux ; Olinger, Eric ; Orr, Sarah ; Sayer, John A. ; Pillay, Vignesh-Guru ; Denommé-Pichon, Anne-Sophie ; Tran Mau-Them, Frederic ; Nambot, Sophie ; Faivre, Laurence ; Ars, Elisabet ; Torra, Roser ; Ong, Albert C.M. ; Devuyst, Olivier ; Perico, Noberto ; Després, Aurore Michel ; Lemoine, Hugo ; de Fallois, Jonathan ; Brousse, Romain ; Hummel, Aurélie ; Knebelmann, Bertrand ; Maisonneuve, Nathalie ; Halbritter, Jan ; Le Meur, Yannick ; Audrézet, Marie-Pierre ; Cornec-Le Gall, Emilie

In American Journal of Kidney Diseases April 2025 85(4):465-476

Rimoldi, Valeria; Paraboschi, Elvezia M.; Bandera, Alessandra; Peyvandi, Flora; Grasselli, Giacomo; Blasi, Francesco; Malvestiti, Francesco; Pelusi, Serena; Bianco, Cristiana; Miano, Lorenzo; Lombardi, Angela; Invernizzi, Pietro; Gerussi, Alessio; Citerio, Giuseppe; Biondi, Andrea; Valsecchi, Maria Grazia; Cazzaniga, Marina Elena; Foti, Giuseppe; Beretta, Ilaria; D'Angiò, Mariella; Bettini, Laura Rachele; Farré, Xavier; Iraola-Guzmán, Susana; Kogevinas, Manolis; Castaño-Vinyals, Gemma; Garcia-Etxebarria, Koldo; Nafria, Beatriz; D'Amato, Mauro; Palom, Adriana; Begg, Colin; Clohisey, Sara; Hinds, Charles; Horby, Peter; Knight, Julian; Ling, Lowell; Maslove, David; McAuley, Danny; Millar, Johnny; Montgomery, Hugh; Nichol, Alistair; Openshaw, Peter J.M.; Pereira, Alexandre C.; Ponting, Chris P.; Rowan, Kathy; Semple, Malcolm G.; Shankar-Hari, Manu; Summers, Charlotte; Walsh, Timothy; Baillie, J. Kenneth; Aravindan, Latha; Armstrong, Ruth; Biggs, Heather; Boz, Ceilia; Brown, Adam; Clark, Richard; Coutts, Audrey; Coyle, Judy; Cullum, Louise; Das, Sukamal; Day, Nicky; Donnelly, Lorna; Duncan, Esther; Fawkes, Angie; Fineran, Paul; Fourman, Max Head; Furlong, Anita; Furniss, James; Gallagher, Bernadette; Gilchrist, Tammy; Golightly, Ailsa; Griffiths, Fiona; Hafezi, Katarzyna; Hamilton, Debbie; Hendry, Ross; Law, Andy; Law, Dawn; Law, Rachel; Law, Sarah; Lidstone-Scott, Rebecca; Macgillivray, Louise; Maclean, Alan; Mal, Hanning; McCafferty, Sarah; Mcmaster, Ellie; Meikle, Jen; Moore, Shona C.; Morrice, Kirstie; Murphy, Lee; Murphy, Sheena; Hellen, Mybaya; Oosthuyzen, Wilna; Zheng, Chenqing; Chen, Jiantao; Parkinson, Nick; Paterson, Trevor; Schon, Katherine; Stenhouse, Andrew; Das, Mihaela; Swets, Maaike; Szoor-McElhinney, Helen; Taneski, Filip; Turtle, Lance; Wackett, Tony; Ward, Mairi; Weaver, Jane; Wrobel, Nicola; Zechner, Marie; Arbane, Gill; Bociek, Aneta; Campos, Sara; Grau, Neus; Jones, Tim Owen; Lim, Rosario; Marotti, Martina; Ostermann, Marlies; Whitton, Christopher; Alldis, Zoe; Astin-Chamberlain, Raine; Bibi, Fatima; Biddle, Jack; Blow, Sarah; Bolton, Matthew; Borra, Catherine; Bowles, Ruth; Burton, Maudrian; Choudhury, Yasmin; Collier, David; Cox, Amber; Easthope, Amy; Ebano, Patrizia; Fotiadis, Stavros; Gurasashvili, Jana; Halls, Rosslyn; Hartridge, Pippa; Kallon, Delordson; Kassam, Jamila; Lancoma-Malcolm, Ivone; Matharu, Maninderpal; May, Peter; Mitchelmore, Oliver; Newman, Tabitha; Patel, Mital; Pheby, Jane; Pinzuti, Irene; Prime, Zoe; Prysyazhna, Oleksandra; Shiel, Julian; Taylor, Melanie; Tierney, Carey; Wood, Suzanne; Zak, Anne; Zongo, Olivier; Bonner, Stephen; Hugill, Keith; Jones, Jessica; Liggett, Steven; Headlam, Evie; Bandla, Nageswar; Gellamucho, Minnie; Davies, Michelle; Thompson, Christopher; Abdelrazik, Marwa; Bakthavatsalam, Dhanalakshmi; Elhassan, Munzir; Ganesan, Arunkumar; Haldeos, Anne; Moreno-Cuesta, Jeronimo; Purohit, Dharam; Vincent, Rachel; Xavier, Kugan; Rohit, Kumar; Alasdair, Frater; Saleem, Malik; David, Carter; Samuel, Jenkins; Lamond, Zoe; Alanna, Wall; Fernandez-Roman, Jaime; Hamilton, David O.; Johnson, Emily; Johnston, Brian; Martinez, Maria Lopez; Mulla, Suleman; Shaw, David; Waite, Alicia A.C.; Waugh, Victoria; Welters, Ingeborg D.; Williams, Karen; Cavazza, Anna; Cockrell, Maeve; Corcoran, Eleanor; Depante, Maria; Finney, Clare; Jerome, Ellen; McPhail, Mark; Nayak, Monalisa; Noble, Harriet; O'Reilly, Kevin; Pappa, Evita; Saha, Rohit; Saha, Sian; Smith, John; Knighton, Abigail; Antcliffe, David; Banach, Dorota; Brett, Stephen; Coghlan, Phoebe; Fernandez, Ziortza; Gordon, Anthony; Rojo, Roceld; Arias, Sonia Sousa; Templeton, Maie; Meredith, Megan; Morris, Lucy; Ryan, Lucy; Clark, Amy; Sampson, Julia; Peters, Cecilia; Dent, Martin; Langley, Margaret; Ashraf, Saima; Wei, Shuying; Andrew, Angela; Bashyal, Archana; Davidson, Neil; Hutton, Paula; McKechnie, Stuart; Wilson, Jean; Baptista, David; Crowe, Rebecca; Fernandes, Rita; Herdman-Grant, Rosaleen; Joseph, Anna; O'Connor, Denise; Allen, Meryem; Loveridge, Adam; McKenley, India; Morino, Eriko; Naranjo, Andres; Simms, Richard; Sollesta, Kathryn; Swain, Andrew; Venkatesh, Harish; Khera, Jacyntha; Fox, Jonathan; Andrew, Gillian; Barclay, Lucy; Callaghan, Marie; Campbell, Rachael; Clark, Sarah; Hope, Dave; Marshall, Lucy; McCulloch, Corrienne; Briton, Kate; Singleton, Jo; Birch, Sohphie; Brimfield, Lutece; Daly, Zoe; Pogson, David; Rose, Steve; Battle, Ceri; Brinkworth, Elaine; Harford, Rachel; Murphy, Carl; Newey, Luke; Rees, Tabitha; Williams, Marie; Arnold, Sophie; Polgarova, Petra; Stroud, Katerina; Meaney, Eoghan; Jones, Megan; Ng, Anthony; Agrawal, Shruti; Pathan, Nazima; White, Deborah; Daubney, Esther; Elston, Kay; Grauslyte, Lina; Hussain, Musarat; Phull, Mandeep; Pogreban, Tatiana; Rosaroso, Lace; Salciute, Erika; Franke, George; Wong, Joanna; George, Aparna; Ortiz-Ruiz de Gordoa, Laura; Peasgood, Emily; Phillips, Claire; Bates, Michelle; Dasgin, Jo; Gill, Jaspret; Nilsson, Annette; Scriven, James; Delgado, Carlos Castro; Dawson, Deborah; Ding, Lijun; Durrant, Georgia; Ezeobu, Obiageri; Farnell-Ward, Sarah; Harrison, Abiola; Kanu, Rebecca; Leaver, Susannah; Maccacari, Elena; Manna, Soumendu; Saluzzio, Romina Pepermans; Queiroz, Joana; Samakomva, Tinashe; Sicat, Christine; Texeira, Joana; Da Gloria, Edna Fernandes; Lisboa, Ana; Rawlins, John; Mathew, Jisha; Kinch, Ashley; Hurt, William James; Shah, Nirav; Clark, Victoria; Thanasi, Maria; Yun, Nikki; Patel, Kamal; Bennett, Sara; Goodwin, Emma; Jackson, Matthew; Kent, Alissa; Tibke, Clare; Woodyatt, Wiesia; Zaki, Ahmed; Abraheem, Azmerelda; Bamford, Peter; Cawley, Kathryn; Dunmore, Charlie; Faulkner, Maria; Girach, Rumanah; Jeffrey, Helen; Jones, Rhianna; London, Emily; Nagra, Imrun; Nasir, Farah; Sainsbury, Hannah; Smedley, Clare; Patel, Tahera; Smith, Matthew; Chukkambotla, Srikanth; Kazi, Aayesha; Hartley, Janice; Dykes, Joseph; Hijazi, Muhammad; Keith, Sarah; Khan, Meherunnisa; Ryan-Smith, Janet; Springle, Philippa; Thomas, Jacqueline; Truman, Nick; Saad, Samuel; Coleman, Dabheoc; Fine, Christopher; Matt, Roseanna; Gay, Bethan; Dalziel, Jack; Ali, Syamlan; Goodchild, Drew; Harling, Rhiannan; Bhatterjee, Ravi; Goddard, Wendy; Davison, Chloe; Duberly, Stephen; Hargreaves, Jeanette; Bolton, Rachel; Davey, Miriam; Golden, David; Seaman, Rebecca; Cherian, Shiney; Cutler, Sean; Heron, Anne Emma; Roynon-Reed, Anna; Szakmany, Tamas; Williams, Gemma; Richards, Owen; Cheema, Yusuf; Brooke, Hollie; Buckley, Sarah; Suarez, Jose Cebrian; Charlesworth, Ruth; Hansson, Karen; Norris, John; Poole, Alice; Rose, Alastair; Sandhu, Rajdeep; Sloan, Brendan; Smithson, Elizabeth; Thirumaran, Muthu; Wagstaff, Veronica; Metcalfe, Alexandra; Brunton, Mark; Caterson, Jess; Coles, Holly; Frise, Matthew; Rai, Sabi Gurung; Jacques, Nicola; Keating, Liza; Tilney, Emma; Bartley, Shauna; Bhuie, Parminder; Gibson, Sian; Lyle, Amanda; McNeela, Fiona; Radhakrishnan, Jayachandran; Hughes, Alistair; Yates, Bryan; Reynolds, Jessica; Campbell, Helen; Thompsom, Maria; Dodds, Steve; Duffy, Stacey; Greer, Sandra; Shuker, Karen; Tridente, Ascanio; Khade, Reena; Sundar, Ashok; Tsinaslanidis, George; Birkinshaw, Isobel; Carter, Joseph; Howard, Kate; Ingham, Joanne; Joy, Rosie; Pearson, Harriet; Roche, Samantha; Scott, Zoe; Bancroft, Hollie; Bellamy, Mary; Carmody, Margaret; Daglish, Jacqueline; Moore, Faye; Rhodes, Joanne; Sangombe, Mirriam; Kadiri, Salma; Croft, Maria; White, Ian; Frost, Victoria; Aquino, Maia; Jha, Rajeev; Krishnamurthy, Vinodh; Lim, Lai; Lim, Li; Combes, Edward; Joefield, Teishel; Monnery, Sonja; Beech, Valerie; Trotman, Sallyanne; Almaden-Boyle, Christine; Austin, Pauline; Cabrelli, Louise; Cole, Stephen; Casey, Matt; Chapman, Susan; Whyte, Clare; Baird, Yolanda; Butler, Aaron; Chadbourn, Indra; Folkes, Linda; Fox, Heather; Gardner, Amy; Gomez, Raquel; Hobden, Gillian; Hodgson, Luke; King, Kirsten; Margarson, Michael; Martindale, Tim; Meadows, Emma; Raynard, Dana; Thirlwall, Yvette; Helm, David; Margalef, Jordi; Criste, Kristine; Cusack, Rebecca; Golder, Kim; Golding, Hannah; Jones, Oliver; Leggett, Samantha; Male, Michelle; Marani, Martyna; Prager, Kirsty; Williams, Toran; Roberts, Belinda; Salmon, Karen; Anderson, Peter; Archer, Katie; Austin, Karen; Davis, Caroline; Durie, Alison; Kelsall, Olivia; Thrush, Jessica; Vigurs, Charlie; Wild, Laura; Wood, Hannah-Louise; Tranter, Helen; Harrison, Alison; Cowley, Nicholas; McAlindon, Michael; Burtenshaw, Andrew; Digby, Stephen; Low, Emma; Morgan, Aled; Cother, Naiara; Rankin, Tobias; Clayton, Sarah; McCurdy, Alex; Ahmed, Cecilia; Baines, Balvinder; Clamp, Sarah; Colley, Julie; Haq, Risna; Hayes, Anne; Hulme, Jonathan; Hussain, Samia; Joseph, Sibet; Kumar, Rita; Maqsood, Zahira; Purewal, Manjit; Benham, Leonie; Bradshaw, Zena; Brown, Joanna; Caswell, Melanie; Cupitt, Jason; Melling, Sarah; Preston, Stephen; Slawson, Nicola; Stoddard, Emma; Warden, Scott; Deacon, Bethan; Lynch, Ceri; Pothecary, Carla; Roche, Lisa; Howe, Gwenllian Sera; Singh, Jayaprakash; Turner, Keri; Ellis, Hannah; Stroud, Natalie; Hunt, Jodie; Dearden, Joy; Dobson, Emma; Drummond, Andy; Mulcahy, Michelle; Munt, Sheila; O'Connor, Grainne; Philbin, Jennifer; Rishton, Chloe; Tully, Redmond; Winnard, Sarah; Cathcart, Susanne; Duffy, Katharine; Puxty, Alex; Puxty, Kathryn; Turner, Lynne; Ireland, Jane; Semple, Gary; Long, Kate; Whiteley, Simon; Wilby, Elizabeth; Ogg, Bethan; Cowton, Amanda; Kay, Andrea; Kent, Melanie; Potts, Kathryn; Wilkinson, Ami; Campbell, Suzanne; Brown, Ellen; Melville, Julie; Naisbitt, Jay; Joseph, Rosane; Lazo, Maria; Walton, Olivia; Neal, Alan; Alexander, Peter; Allen, Schvearn; Bradley-Potts, Joanne; Brantwood, Craig; Egan, Jasmine; Felton, Timothy; Padden, Grace; Ward, Luke; Moss, Stuart; Glasgow, Susannah; Abel, Lynn; Brett, Michael; Digby, Brian; Gemmell, Lisa; Hornsby, James; MacGoey, Patrick; O'Neil, Pauline; Price, Richard; Rodden, Natalie; Rooney, Kevin; Sundaram, Radha; Thomson, Nicola; Hopkins, Bridget; Thrasyvoulou, Laura; Willis, Heather; Clark, Martyn; Coulding, Martina; Jude, Edward; McCormick, Jacqueline; Mercer, Oliver; Potla, Darsh; Rehman, Hafiz; Savill, Heather; Turner, Victoria; Downes, Charlotte; Holding, Kathleen; Riches, Katie; Hilton, Mary; Hayman, Mel; Subramanian, Deepak; Daniel, Priya; Adanini, Oluronke; Bhatia, Nikhil; Msiska, Maines; Collins, Rebecca; Clement, Ian; Patel, Bijal; Gulati, A.; Hays, Carole; Webster, K.; Hudson, Anne; Webster, Andrea; Stephenson, Elaine; McCormack, Louise; Slater, Victoria; Nixon, Rachel; Hanson, Helen; Fearby, Maggie; Kelly, Sinead; Bridgett, Victoria; Robinson, Philip; Camsooksai, Julie; Humphrey, Charlotte; Jenkins, Sarah; Reschreiter, Henrik; Wadams, Beverley; Death, Yasmin; Bastion, Victoria; Clarke, Daphene; David, Beena; Kent, Harriet; Lorusso, Rachel; Lubimbi, Gamu; Murdoch, Sophie; Penacerrada, Melchizedek; Thomas, Alastair; Valentine, Jennifer; Vochin, Ana; Wulandari, Retno; Djeugam, Brice; Bell, Gillian; English, Katy; Katary, Amro; Wilcox, Louise; Bruce, Michelle; Connolly, Karen; Duncan, Tracy; T-Michael, Helen; Lindergard, Gabriella; Hey, Samuel; Fox, Claire; Alfonso, Jordan; Durrans, Laura Jayne; Guerin, Jacinta; Blackledge, Bethan; Harris, Jade; Hruska, Martin; Eltayeb, Ayaa; Lamb, Thomas; Hodgkiss, Tracey; Cooper, Lisa; Rothwell, Joanne; Allan, Angela; Anderson, Felicity; Kaye, Callum; Liew, Jade; Medhora, Jasmine; Scott, Teresa; Trumper, Erin; Botello, Adriana; Lankester, Liana; Nikitas, Nikitas; Wells, Colin; Stowe, Bethan; Spencer, Kayleigh; Brandwood, Craig; Smith, Lara; Birchall, Katie; Kolakaluri, Laurel; Baines, Deborah; Sukumaran, Anila; Apetri, Elena; Basikolo, Cathrine; Catlow, Laura; Charles, Bethan; Dark, Paul; Doonan, Reece; Harvey, Alice; Horner, Daniel; Knowles, Karen; Lee, Stephanie; Lomas, Diane; Lyons, Chloe; Marsden, Tracy; McLaughlan, Danielle; McMorrow, 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In Human Genetics and Genomics Advances 10 October 2024 5(4)

Ambrose, John C. ; Arumugam, Prabhu ; Bevers, Roel ; Bleda, Marta ; Boardman-Pretty, Freya ; Boustred, Christopher R. ; Brittain, Helen ; Caulfield, Mark J. ; Chan, Georgia C. ; Elgar, Greg ; Fowler, Tom ; Giess, Adam ; Hamblin, Angela ; Henderson, Shirley ; Hubbard, Tim J.P. ; Jackson, Rob ; Jones, Louise J. ; Kasperaviciute, Dalia ; Kayikci, Melis ; Kousathanas, Athanasios ; Lahnstein, Lea ; Leigh, Sarah E.A. ; Leong, Ivonne U.S. ; Lopez, Javier F. ; Maleady-Crowe, Fiona ; McEntagart, Meriel ; Minneci, Federico ; Moutsianas, Loukas ; Mueller, Michael ; Murugaesu, Nirupa ; Need, Anna C. ; O’Donovan, Peter ; Odhams, Chris A. ; Patch, Christine ; Pereira, Mariana Buongermino ; Perez-Gil, Daniel ; Pullinger, John ; Rahim, Tahrima ; Rendon, Augusto ; Rogers, Tim ; Savage, Kevin ; Sawant, Kushmita ; Scott, Richard H. ; Siddiq, Afshan ; Sieghart, Alexander ; Smith, Samuel C. ; Sosinsky, Alona ; Stuckey, Alexander ; Tanguy, Mélanie ; Taylor Tavares, Ana Lisa ; Thomas, Ellen R.A. ; Thompson, Simon R. ; Tucci, Arianna ; Welland, Matthew J. ; Williams, Eleanor ; Witkowska, Katarzyna ; Wood, Suzanne M. ; Schönauer, Ria ; Sierks, Dana ; Boerrigter, Melissa ; Jawaid, Tabinda ; Caroff, Lea ; Audrezet, Marie-Pierre ; Friedrich, Anja ; Shaw, Melissa ; Degenhardt, Jan ; Forberger, Mirjam ; de Fallois, Jonathan ; Bläker, Hendrik ; Bergmann, Carsten ; Gödiker, Juliana ; Schindler, Philipp ; Schlevogt, Bernhard ; Müller, Roman-U. ; Berg, Thomas ; Patterson, Ilse ; Griffiths, William J. ; Sayer, John A. ; Popp, Bernt ; Torres, Vicente E. ; Hogan, Marie C. ; Somlo, Stefan ; Watnick, Terry J. ; Nevens, Frederik ; Besse, Whitney ; Cornec-Le Gall, Emilie ; Harris, Peter C. ; Drenth, Joost P.H. ; Halbritter, Jan

In Gastroenterology May 2024 166(5):902-914

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In Kidney International November 2023 104(5):995-1007

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In Kidney International November 2023 104(5):975-984

Pochiero, Francesca; Mari, Francesco; Ramesh, Venkateswaran; Capra, Valeria; Mancardi, Margherita; Keren, Boris; Mignot, Cyiril; Lulli, Matteo; Parks, Kendall; Griffin, Helen; Brugger, Melanie; Nigro, Vincenzo; Hirata, Yuko; Koichihara, Reiko; Peterlin, Borut; Maki, Ryuto; Nitta, Yohei; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Brown, Matthew A.; Caulfield, Mark J.; Chan, Georgia C.; Giess, Adam; Griffin, John N.; Hamblin, Angela; Henderson, Shirley; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Lakey, Anna; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; McEntagart, Meriel; Minneci, Federico; Mitchell, Jonathan; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O’Donovan, Peter; Odhams, Chris A.; Patch, Christine; Perez-Gil, Daniel; Pereira, Marina B.; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thomas, Ellen R.A.; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Zarowiecki, Magdalena; Vetro, Annalisa ; Pelorosso, Cristiana ; Balestrini, Simona ; Masi, Alessio ; Hambleton, Sophie ; Argilli, Emanuela ; Conti, Valerio ; Giubbolini, Simone ; Barrick, Rebekah ; Bergant, Gaber ; Writzl, Karin ; Bijlsma, Emilia K. ; Brunet, Theresa ; Cacheiro, Pilar ; Mei, Davide ; Devlin, Anita ; Hoffer, Mariëtte J.V. ; Machol, Keren ; Mannaioni, Guido ; Sakamoto, Masamune ; Menezes, Manoj P. ; Courtin, Thomas ; Sherr, Elliott ; Parra, Riccardo ; Richardson, Ruth ; Roscioli, Tony ; Scala, Marcello ; von Stülpnagel, Celina ; Smedley, Damian ; Torella, Annalaura ; Tohyama, Jun ; Hamada, Keisuke ; Ogata, Kazuhiro ; Suzuki, Takashi ; Sugie, Atsushi ; van der Smagt, Jasper J. ; van Gassen, Koen ; Valence, Stephanie ; Vittery, Emma ; Malone, Stephen ; Kato, Mitsuhiro ; Matsumoto, Naomichi ; Ratto, Gian Michele ; Guerrini, Renzo

In The American Journal of Human Genetics 3 August 2023 110(8):1356-1376

Ingram, Stuart; Taylor, Rachel; Manson, Forbes; Sergouniotis, Panagiotis; Pontikos, Nikolas; Cheetham, Michael; Fiorentino, Alessia; Downes, Susan; Yu, Jing; Halford, Stephanie; Broadgate, Suzanne; van Heyningen, Veronica; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Caulfield, Mark J.; Chan, Georgia C.; Elgar, Greg; Fowler, Tom; Giess, Adam; Hamblin, Angela; Henderson, Shirley; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; McEntagart, Meriel; Minneci, Federico; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O’Donovan, Peter; Odhams, Chris A.; Patch, Christine; Pereira, Mariana Buongermino; Perez-Gil, Daniel; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thomas, Ellen R.A.; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Yahya, Samar ; Smith, Claire E.L. ; Poulter, James A. ; McKibbin, Martin ; Arno, Gavin ; Ellingford, Jamie ; Kämpjärvi, Kati ; Khan, Muhammad I. ; Cremers, Frans P.M. ; Hardcastle, Alison J. ; Castle, Bruce ; Steel, David H.W. ; Webster, Andrew R. ; Black, Graeme C. ; El-Asrag, Mohammed E. ; Ali, Manir ; Toomes, Carmel ; Inglehearn, Chris F.

In Ophthalmology January 2023 130(1):68-76

Nickerson, Deborah; Bamshad, Michael; Leal, Suzanne; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Caulfield, Mark J.; Chan, Georgia C.; Elgar, Greg; Fowler, Tom; Giess, Adam; Hamblin, Angela; Henderson, Shirley; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; FionaMaleady-Crowe; McEntagart, Meriel; Minneci, Federico; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O’Donovan, Peter; Odhams, Chris A.; Patch, Christine; Pereira, Mariana Buongermino; Perez-Gil, Daniel; Pullinger, John; TahrimaRahim; Rendon, Augusto; TimRogers; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thomas, Ellen R.A.; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Al-Jawahiri, Reem ; Foroutan, Aidin ; Kerkhof, Jennifer ; McConkey, Haley ; Levy, Michael ; Haghshenas, Sadegheh ; Rooney, Kathleen ; Turner, Jasmin ; Shears, Debbie ; Holder, Muriel ; Lefroy, Henrietta ; Castle, Bruce ; Reis, Linda M. ; Semina, Elena V. ; Lachlan, Katherine ; Chandler, Kate ; Wright, Thomas ; Clayton-Smith, Jill ; Hug, Franziska Phan ; Pitteloud, Nelly ; Bartoloni, Lucia ; Hoffjan, Sabine ; Park, Soo-Mi ; Thankamony, Ajay ; Lees, Melissa ; Wakeling, Emma ; Naik, Swati ; Hanker, Britta ; Girisha, Katta M. ; Agolini, Emanuele ; Giuseppe, Zampino ; Alban, Ziegler ; Tessarech, Marine ; Keren, Boris ; Afenjar, Alexandra ; Zweier, Christiane ; Reis, Andre ; Smol, Thomas ; Tsurusaki, Yoshinori ; Nobuhiko, Okamoto ; Sekiguchi, Futoshi ; Tsuchida, Naomi ; Matsumoto, Naomichi ; Kou, Ikuyo ; Yonezawa, Yoshiro ; Ikegawa, Shiro ; Callewaert, Bert ; Freeth, Megan ; Kleinendorst, Lotte ; Donaldson, Alan ; Alders, Marielle ; De Paepe, Anne ; Sadikovic, Bekim ; McNeill, Alisdair

In Genetics in Medicine June 2022 24(6):1261-1273

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In The Lancet Neurology March 2022 21(3):234-245

Hyder, Zerin ; Calpena, Eduardo ; Pei, Yang ; Tooze, Rebecca S. ; Brittain, Helen ; Twigg, Stephen R.F. ; Cilliers, Deirdre ; Morton, Jenny E.V. ; McCann, Emma ; Weber, Astrid ; Wilson, Louise C. ; Douglas, Andrew G.L. ; McGowan, Ruth ; Need, Anna ; Bond, Andrew ; Tavares, Ana Lisa Taylor ; Thomas, Ellen R.A. ; Ambrose, John C. ; Arumugam, Prabhu ; Bevers, Roel ; Bleda, Marta ; Boustred, Christopher R. ; Chan, Georgia C. ; Elgar, Greg ; Fowler, Tom ; Giess, Adam ; Hamblin, Angela ; Henderson, Shirley ; Hubbard, Tim J.P. ; Jackson, Rob ; Jones, Louise J. ; Kasperaviciute, Dalia ; Kayikci, Melis ; Kousathanas, Athanasios ; Lahnstein, Lea ; Leigh, Sarah E.A. ; Leong, Ivonne U.S. ; Lopez, Javier F. ; Maleady-Crowe, Fiona ; McEntagart, Meriel ; Minneci, Federico ; Moutsianas, Loukas ; Mueller, Michael ; Murugaesu, Nirupa ; O’Donovan, Peter ; Odhams, Chris A. ; Patch, Christine ; Pereira, Mariana Buongermino ; Perez-Gil, Daniel ; Pullinger, John ; Rahim, Tahrima ; Rendon, Augusto ; Rogers, Tim ; Savage, Kevin ; Sawant, Kushmita ; Siddiq, Afshan ; Sieghart, Alexander ; Smith, Samuel C. ; Sosinsky, Alona ; Stuckey, Alexander ; Tanguy, Mélanie ; Thompson, Simon R. ; Tucci, Arianna ; Welland, Matthew J. ; Williams, Eleanor ; Witkowska, Katarzyna ; Wood, Suzanne M. ; Hill, Susan L. ; Deans, Zandra C. ; Boardman-Pretty, Freya ; Caulfield, Mark ; Scott, Richard H. ; Wilkie, Andrew O.M.

In Genetics in Medicine December 2021 23(12):2360-2368

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