부산대학교 도서관

Groeneweg, Stefan; van Geest, Ferdy S.; Martín, Mariano; Dias, Mafalda; Frazer, Jonathan; Medina-Gomez, Carolina; Sterenborg, Rosalie B. T. M.; Wang, Hao; Dolcetta-Capuzzo, Anna; de Rooij, Linda J.; Teumer, Alexander; Abaci, Ayhan; van den Akker, Erica L. T.; Ambegaonkar, Gautam P.; Armour, Christine M.; Bacos, Iiuliu; Bakhtiani, Priyanka; Barca, Diana; Bauer, Andrew J.; van den Berg, Sjoerd A. A.; van den Berge, Amanda; Bertini, Enrico; van Beynum, Ingrid M.; Brunetti-Pierri, Nicola; Brunner, Doris; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; Chesover, Alexander; Christian, Peter; Coenen-van der Spek, Jet; de Coo, Irenaeus F. M.; Coutant, Regis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dewey, Cheyenne; Dica, Alice; Dimitri, Paul; Dremmen, Marjolein H. G.; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; Garibaldi, Luigi; George, Belinda; Gevers, Evelien F.; Greenup, Erin; Hackenberg, Annette; Halász, Zita; Heinrich, Bianka; Hurst, Anna C.; Huynh, Tony; Isaza, Amber R.; Klosowska, Anna; van der Knoop, Marieke M.; Konrad, Daniel; Koolen, David A.; Krude, Heiko; Kulkarni, Abhishek; Laemmle, Alexander; LaFranchi, Stephen H.; Lawson-Yuen, Amy; Lebl, Jan; Leeuwenburgh, Selmar; Linder-Lucht, Michaela; López Martí, Anna; Lorea, Cláudia F.; Lourenço, Charles M.; Lunsing, Roelineke J.; Lyons, Greta; Malikova, Jana Krenek; Mancilla, Edna E.; McCormick, Kenneth L.; McGowan, Anne; Mericq, Veronica; Lora, Felipe Monti; Moran, Carla; Muller, Katalin E.; Nicol, Lindsey E.; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G.; Polak, Michel; Porta, Francesco; Poswar, Fabiano O.; Reinauer, Christina; Rozenkova, Klara; Seckold, Rowen; Seven Menevse, Tuba; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; Stals, Milou A. M.; Stegenga, Merel T.; Stoupa, Athanasia; Subramanian, Gopinath M.; Szeifert, Lilla; Tonduti, Davide; Turan, Serap; Vanderniet, Joel; van der Walt, Adri; Wémeau, Jean-Louis; van Wermeskerken, Anne-Marie; Wierzba, Jolanta; de Wit, Marie-Claire Y.; Wolf, Nicole I.; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Rivadeneira, Fernando; Meima, Marcel E.; Marks, Debora S.; Nicola, Juan P.; Chen, Chi-Hua; Medici, Marco; Visser, W. Edward

Nature Communications. 16(1)

Paediatrics and Child Health. 35(5):140-145

Cornell, Nikki; Childs, Anne-Marie; Wraige, Elizabeth; Munot, Pinki; Ambegaonkar, Gautam; Chow, Gabriel; Hughes, Imelda; Illingworth, Marjorie; Majumdar, Anirban; Marini-Bettolo, Chiara; Parasuraman, Deepak; Spinty, Stefan; Willis, Tracey; Scoto, Mariacristina; Baranello, Giovanni; paediatric UK risdiplam EAMS working group, .

J Neuromuscul Dis

Henzi, Bettina C, MD; Schmidt, Simone, MD; Nagy, Sara, MD; Rubino-Nacht, Daniela; Schaedelin, Sabine, MSc; Putananickal, Niveditha, MSc; Stimpson, Georgia, MSc; Amthor, Helge, MD; Childs, Anne-Marie, MD; Deconinck, Nicolas, Prof; de Groot, Imelda, MD; Horrocks, Iain, MD; Houwen-van Opstal, Saskia, MD; Laugel, Vincent, MD; Lopez Lobato, Mercedes, MD; Madruga Garrido, Marcos, MD; Nascimento Osorio, Andrés, MD; Schara-Schmidt, Ulrike, Prof; Spinty, Stefan, MD; von Moers, Arpad, MD; Lawrence, Fiona; Hafner, Patricia, MD; Dorchies, Olivier M, PhD; Fischer, Dirk, Prof; Ridout, Deborah; Muntoni, Francesco; Manzur, Adnan.; Quinlivan, Rosaline; Baranello, Giovanni; Main, Marion; Abbott, Lianne; Burnett, Nicola; Rohwer, Anne-Marie; Milev, Evelin; Wolfe, Adrian; O'Reilly, Emer; Straub, Volker; Guglieri, Michela; Bettolo, Chiara; Muni-Lofra, Robert; James, Meredith; Sodhi, Jassi; Willis, Tracey; Wright, Elizabeth; Rylance, Claire; Birchall, Nicola; Pysden, Karen; Martos-Lozano, Cristina; Pallant, Lindsey; Wadsworth, Steph; Madhu, Rajesh; Karuvattil, Rajesh; Gregson, Sarah; Clark, Stuart; Wraige, Elizabeth; Jungbluth, Heinz; Gowda, Vasantha; Vanegas, Maria; Sheehan, Ennie; Wolfe, Amy; Schofield, Alex; Hughes, Imelda; McCullagh, Gary; Whitehouse, Emily; Varma, Uma.; Warner, Sinead; Reading, Emily; Benson, Lucy.; Moustoukas, Jenny; Strachan, Kate; Emery, Nicholas; Ong, Min; Atherton, Mark; Durso, Sarah; White, Kay; Hinde, Neil; Skone, Kate; Sanchez Marco, Silvia; Saxena, Anurag; Gibbon, Frances; TeWaterNaude, Johann; Davis, Hayley; Thompson, Laura; Majumdar, Anirban; Murugan, Archana; Lynch, Mollie; Milton, Emily; Guarino, Iolanda; Tomlinson, Richard; Jarvis, Heather; Berry, Jane; Wills, Lucy; Frimpong-Ansah, Claire; Watson, Jackie; Robertson, Gemma; Cobb, Gavin; Burslem, Julie; Wong, Jarod; Brunklaus, Andreas; DiMarco, Marina; Brown, Sarah; Mckenzie, Susanne; Torne, Krupa; Mohamed, Rana; Velmurugan, Vel; Prasad, Manish; Sedehizadeh, Saam; Williamson, Sarah; Fenty, Paula; Degoede, Christian; Parkes, Amy; Illingworth, Marjorie; Bhangu, Neeraj; Geary, Michelle; Palmer, Jenni; Shill, Catherine; White, Cathy; Greenfield, Kathryn; Tomos, Heledd; Gates, Sarah; Tirupathi, Sandya; Shah, Ayaz; O'Donoghue, Dara; McVeigh, Janine; McFetridge, Jaci; Nic Fhirleinn, Grainne; Hussain, Nahin; Baskaran, Dhinesh; Lambat, Zubeida; Ambegaonkar, Gautam; Krishnakumar, Deepa; Taylor, Jacqui; Moores, Jo; Stephen, Elma; Tewnion, Jane; Ramdas, Sithara; Sa, Mario; Servais, Laurent; Lilien, Charlotte; Ramjattan, Hayley; Taylor, Francesca; English, Hayley; Parasuraman, Deepak; Rabb, Rosanna; McMurchie, Heather

The Lancet Neurology. 22(10):890-899

Sanchis-Juan, Alba ; Megy, Karyn ; Stephens, Jonathan ; Armirola Ricaurte, Camila ; Dewhurst, Eleanor ; Low, Kayyi ; French, Courtney E. ; Grozeva, Detelina ; Stirrups, Kathleen ; Erwood, Marie ; McTague, Amy ; Penkett, Christopher J. ; Shamardina, Olga ; Tuna, Salih ; Daugherty, Louise C. ; Gleadall, Nicholas ; Duarte, Sofia T. ; Hedrera-Fernández, Antonio ; Vogt, Julie ; Ambegaonkar, Gautam ; Chitre, Manali ; Josifova, Dragana ; Kurian, Manju A. ; Parker, Alasdair ; Rankin, Julia ; Reid, Evan ; Wakeling, Emma ; Wassmer, Evangeline ; Woods, C. Geoffrey ; Raymond, F. Lucy ; Carss, Keren J.

In The American Journal of Human Genetics 3 August 2023 110(8):1343-1355

Cooray, Samantha; Wilson, Alexander; Gerety, Emma-Louise; Hook, C. Elizabeth; Kelly, Anne M.; Gattens, Michael; Armstrong, Ruth; Kelsall, Wilf; Ambegaonkar, Gautam; Allen, Louise; Cook, Matthew; Baxendale, Helen; Bale, Peter; Armon, Kate

RHEUMATOLOGY; DEC 14 2025, 3p.

Johannesen, Katrine M. ; Iqbal, Sumaiya ; Guazzi, Milena ; Mohammadi, Nazanin A. ; Pérez-Palma, Eduardo ; Schaefer, Elise ; De Saint Martin, Anne ; Abiwarde, Marie Therese ; McTague, Amy ; Pons, Roser ; Piton, Amelie ; Kurian, Manju A. ; Ambegaonkar, Gautam ; Firth, Helen ; Sanchis-Juan, Alba ; Deprez, Marie ; Jansen, Katrien ; De Waele, Liesbeth ; Briltra, Eva H. ; Verbeek, Nienke E. ; van Kempen, Marjan ; Fazeli, Walid ; Striano, Pasquale ; Zara, Federico ; Visser, Gerhard ; Braakman, Hilde M.H. ; Haeusler, Martin ; Elbracht, Miriam ; Vaher, Ulvi ; Smol, Thomas ; Lemke, Johannes R. ; Platzer, Konrad ; Kennedy, Joanna ; Klein, Karl Martin ; Au, Ping Yee Billie ; Smyth, Kimberly ; Kaplan, Julie ; Thomas, Morgan ; Dewenter, Malin K. ; Dinopoulos, Argirios ; Campbell, Arthur J. ; Lal, Dennis ; Lederer, Damien ; Liao, Vivian W.Y. ; Ahring, Philip K. ; Møller, Rikke S. ; Gardella, Elena

In Genetics in Medicine March 2022 24(3):681-693

Hong Joo Kim; Payam Mohassel; Sandra Donkervoort; Lin Guo; Kevin O’Donovan; Maura Coughlin; Xaviere Lornage; Nicola Foulds; Simon R. Hammans; A. Reghan Foley; Charlotte M. Fare; Alice F. Ford; Masashi Ogasawara; Aki Sato; Aritoshi Iida; Pinki Munot; Gautam Ambegaonkar; Rahul Phadke; Dominic G. O’Donovan; Rebecca Buchert; Mona Grimmel; Ana Töpf; Irina T. Zaharieva; Lauren Brady; Ying Hu; Thomas E. Lloyd; Andrea Klein; Maja Steinlin; Alice Kuster; Sandra Mercier; Pascale Marcorelles; Yann Péréon; Emmanuelle Fleurence; Adnan Manzur; Sarah Ennis; Rosanna Upstill-Goddard; Luca Bello; Cinzia Bertolin; Elena Pegoraro; Leonardo Salviati; Courtney E. French; Andriy Shatillo; F. Lucy Raymond; Tobias B. Haack; Susana Quijano-Roy; Johann Böhm; Isabelle Nelson; Tanya Stojkovic; Teresinha Evangelista; Volker Straub; Norma B. Romero; Jocelyn Laporte; Francesco Muntoni; Ichizo Nishino; Mark A. Tarnopolsky; James Shorter; Carsten G. Bönnemann; J. Paul Taylor

Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)

Groeneweg, Stefan; van Geest, Ferdy S; Abacı, Ayhan; Alcantud, Alberto; Ambegaonkar, Gautam P; Armour, Christine M; Bakhtiani, Priyanka; Barca, Diana; Bertini, Enrico S; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Bugiani, Marianna; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; de Coo, Irenaeus F M; Coutant, Régis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dica, Alice; Dimitri, Paul; Dolcetta-Capuzzo, Anna; Dremmen, Marjolein H G; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; George, Belinda; Gevers, Evelien F; Hackenberg, Annette; Halász, Zita; Heinrich, Bianka; Huynh, Tony; Kłosowska, Anna; van der Knaap, Marjo S; van der Knoop, Marieke M; Konrad, Daniel; Koolen, David A; Krude, Heiko; Lawson-Yuen, Amy; Lebl, Jan; Linder-Lucht, Michaela; Lorea, Cláudia F; Lourenço, Charles M; Lunsing, Roelineke J; Lyons, Greta; Malikova, Jana; Mancilla, Edna E; McGowan, Anne; Mericq, Veronica; Lora, Felipe M; Moran, Carla; Müller, Katalin E; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Poswar, Fabiano O; Reinauer, Christina; Rozenkova, Klara; Menevse, Tuba S; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; van der Spek, Jet; Stals, Milou A M; Stoupa, Athanasia; Subramanian, Gopinath M; Tonduti, Davide; Turan, Serap; den Uil, Corstiaan A; Vanderniet, Joel; van der Walt, Adri; Wémeau, Jean-Louis; Wierzba, Jolante; de Wit, Marie-Claire Y; Wolf, Nicole I; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Visser, W Edward

LANCET DIABETES & ENDOCRINOLOGY
r-FISABIO. Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-FISABIO: Repositorio Institucional de Producción Científica
instname
Groeneweg, S, van Geest, F S, Abacı, A, Alcantud, A, Ambegaonkar, G P, Armour, C M, Bakhtiani, P, Barca, D, Bertini, E S, van Beynum, I M, Brunetti-Pierri, N, Bugiani, M, Cappa, M, Cappuccio, G, Castellotti, B, Castiglioni, C, Chatterjee, K, de Coo, I F M, Coutant, R, Craiu, D, Crock, P, DeGoede, C, Demir, K, Dica, A, Dimitri, P, Dolcetta-Capuzzo, A, Dremmen, M H G, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, George, B, Gevers, E F, Hackenberg, A, Halász, Z, Heinrich, B, Huynh, T, Kłosowska, A, van der Knaap, M S, van der Knoop, M M, Konrad, D, Koolen, D A, Krude, H, Lawson-Yuen, A, Lebl, J, Linder-Lucht, M, Lorea, C F, Lourenço, C M, Lunsing, R J, Lyons, G, Malikova, J, Mancilla, E E, McGowan, A, Mericq, V, Lora, F M, Moran, C, Müller, K E, Oliver-Petit, I, Paone, L, Paul, P G, Polak, M, Porta, F, Poswar, F O, Reinauer, C, Rozenkova, K, Menevse, T S, Simm, P, Simon, A, Singh, Y, Spada, M, van der Spek, J, Stals, M A M, Stoupa, A, Subramanian, G M, Tonduti, D, Turan, S, den Uil, C A, Vanderniet, J, van der Walt, A, Wémeau, J L, Wierzba, J, de Wit, M C Y, Wolf, N I, Wurm, M, Zibordi, F, Zung, A, Zwaveling-Soonawala, N & Visser, W E 2020, 'Disease characteristics of MCT8 deficiency : an international, retrospective, multicentre cohort study', The Lancet Diabetes and Endocrinology, vol. 8, no. 7, pp. 594-605. https://doi.org/10.1016/S2213-8587(20)30153-4
Lancet Diabetes & Endocrinology, 8, 7, pp. 594-605

Abbassi, Natalie; Ambegaonkar, Gautam

In Paediatrics and Child Health November 2019 29(11):459-462

Groeneweg, Stefan ; Peeters, Robin P ; Moran, Carla ; Stoupa, Athanasia ; Auriol, Françoise ; Tonduti, Davide ; Dica, Alice ; Paone, Laura ; Rozenkova, Klara ; Malikova, Jana ; van der Walt, Adri ; de Coo, Irenaeus F M ; McGowan, Anne ; Lyons, Greta ; Aarsen, Femke K ; Barca, Diana ; van Beynum, Ingrid M ; van der Knoop, Marieke M ; Jansen, Jurgen ; Manshande, Martien ; Lunsing, Roelineke J ; Nowak, Stan ; den Uil, Corstiaan A ; Zillikens, M Carola ; Visser, Frank E ; Vrijmoeth, Paul ; de Wit, Marie Claire Y ; Wolf, Nicole I ; Zandstra, Angelique ; Ambegaonkar, Gautam ; Singh, Yogen ; de Rijke, Yolanda B ; Medici, Marco ; Bertini, Enrico S ; Depoorter, Sylvia ; Lebl, Jan ; Cappa, Marco ; De Meirleir, Linda ; Krude, Heiko ; Craiu, Dana ; Zibordi, Federica ; Oliver Petit, Isabelle ; Polak, Michel ; Chatterjee, Krishna ; Visser, Theo J ; Visser, W Edward

In The Lancet Diabetes & Endocrinology September 2019 7(9):695-706

Parmar, Mira; Zainabu Mudasiru; Ambegaonkar, Gautam; Nazakat M Merchant

Kingston-Hepner, Miranda; Ambegaonkar, Gautam

In Paediatrics and Child Health June 2017 27(6):268-270

Thaventhiran, James E.D.; Lango Allen, Hana; Burren, Oliver S.; Rae, William; Greene, Daniel; Staples, Emily; Zhang, Zinan; Farmery, James H.R.; Simeoni, Ilenia; Rivers, Elizabeth; Maimaris, Jesmeen; Penkett, Christopher J.; Stephens, Jonathan; Deevi, Sri V.V.; Sanchis-Juan, Alba; Gleadall, Nicholas S.; Thomas, Moira J.; Sargur, Ravishankar B.; Gordins, Pavels; Baxendale, Helen E.; Brown, Matthew; Tuijnenburg, Paul; Worth, Austen; Hanson, Steven; Linger, Rachel J.; Buckland, Matthew S.; Rayner-Matthews, Paula J.; Gilmour, Kimberly C.; Samarghitean, Crina; Seneviratne, Suranjith L.; Sansom, David M.; Lynch, Andy G.; Megy, Karyn; Ellinghaus, Eva; Ellinghaus, David; Jorgensen, Silje F.; Karlsen, Tom H.; Stirrups, Kathleen E.; Cutler, Antony J.; Kumararatne, Dinakantha S.; Chandra, Anita; Edgar, J. David M.; Herwadkar, Archana; Cooper, Nichola; Grigoriadou, Sofia; Huissoon, Aarnoud P.; Goddard, Sarah; Jolles, Stephen; Schuetz, Catharina; Boschann, Felix; Abbs, Stephen; Adhya, Zoe; Adlard, Julian; Afzal, Maryam; Ahmed, Irshad; Ahmed, Munaza; Ahmed, Saeed; Aitman, Timothy J.; Alachkar, Hana; Alamelu, Jayanthi; Alikhan, Raza; Allen, Carl E.; Allen, Louise; Allsup, David J.; Alvi, Arif; Ambegaonkar, Gautam; Anantharachagan, Ariharan; Ancliff, Philip; Anderson, Julie; Antrobus, Richard; Armstrong, Ruth; Arno, Gavin; Arumugakani, Gururaj; Arya, Rita; Ashford, Sofie; Astle, William J.; Attwood, Anthony; Austin, Steve; Aydinok, Yesim; Ayub, Waqar; Babbs, Christian; Bacchelli, Chiara; Baglin, Trevor; Bakchoul, Tamam; Bariana, Tadbir K.; Barratt, Jonathan; Barwell, Julian; Baski, John; Bates, Rachel W.; Batista, Joana; Baynam, Gareth; Bennett, David L.; Bethune, Claire; Bhatnagar, Neha; Bibi, Shahnaz; Bierzynska, Agnieszka; Biss, Tina; Bitner-Glindzicz, Maria A.K.; Bleda, Marta; Blesneac, Iulia; Boardman, Barbara; Boddana, Preetham; Bogaard, Harm J.; Booth, Claire; Boyce, Sara; Bradley, John R.; Brady, Angela; Breen, Gerome; Brennan, Paul; Brewer, Carole; Briley, Annette; Brown, Richard; Browning, Michael J.; Brownlie, Mary; Bryson, Christine J.; Buchan, Rachel J.; Buck, Jackie; Bueser, Teofila; Diz, Carmen Bugarin; Burns, Siobhan O.; Calleja, Paul; Carmichael, Jenny; Carr-White, Gerald; Carss, Keren J.; Casey, Ruth; Chalmers, Elizabeth; Chambers, Jenny; Chambers, John; Chan, Melanie M.Y.; Chan, Melissa V.; Cheng, Floria; Chinn, Ivan K.; Chinnery, Patrick F.; Chitre, Manali; Chong, Sam; Christian, Martin T.; Church, Colin; Clement, Emma M.; Brod, Naomi Clements; Clifford, Hayley; Clowes, Virginia E.; Coghlan, Gerry; Colby, Elizabeth; Cole, Trevor R.P.; Collins, Janine H.; Collins, Peter W.; Condliffe, Robin; Cook, H. Terence; Cook, Stuart; Cookson, Victoria; Corris, Paul A.; Creaser-Myers, Amanda; Crisp-Hihn, Abigail; Curry, Nicola S.; Da Costa, Rosa; Danesino, Cesare; Daniels, Matthew J.; Darby, Damaris; Daugherty, Louise C.; Davies, E. G.; Davies, Sophie; Davis, John; de Bree, Godelieve J.; Deacock, Sarah; Deegan, Patrick B.; Dempster, John; Dent, Timothy; Deshpande, Charu; Devlin, Lisa A.; Dewhurst, Eleanor F.; Dixit, Anand K.; Dixon, Peter H.; Doffinger, Rainer; Dolling, Helen; Dormand, Natalie; Downes, Kate; Drazyk, Anna M.; Drewe, Elizabeth; Duarte, Daniel; Dutt, Tina; Edwards, Karen E.; Egner, William; Ekani, Melanie N.; El-Shanawany, Tariq; Elkhalifa, Shuayb; Elston, Tony; Emmerson, Ingrid; Erber, Wendy N.; Erwood, Marie; Estiu, Maria C.; Evans, Dafydd Gareth; Evans, Gillian; Everington, Tamara; Eyries, Mélanie; Favier, Remi; Firth, Helen V.; Fitzpatrick, Maggie M.; Fletcher, Debra; Flinter, Frances A.; Fox, James C.; Frary, Amy J.; French, Courtney E.; Freson, Kathleen; Frontini, Mattia; Furie, Bruce; Gale, Daniel P.; Gall, Henning J.; Gardham, Alice; Gaspar, H. Bobby; Gattens, Michael; Ghali, Neeti; Ghataorhe, Pavandeep K.; Ghio, Stefano; Ghofrani, Hossein Ardeschir; Ghurye, Rohit; Gibbs, J. Simon R.; Gilbert, Rodney D.; Girerd, Barbara; Girling, Joanna C.; Gissen, Paul; Gorman, Kathleen M.; Gosal, David; Graf, Stefan; Grassi, Luigi; Greenhalgh, Alan J.; Greenhalgh, Lynn; Greinacher, Andreas; Gresele, Paolo; Griffiths, Philip G.; Griffiths, Sian; Grozeva, Detelina; Hackett, Scott J.; Hadden, Robert D.M.; Hadinnapola, Charaka; Hague, Rosie; Hague, William M.; Haimel, Matthias; Hall, Matthew; Halmagyi, Csaba; Hammerton, Tracey; Hanson, Helen L.; Harkness, Kirsty; Harper, Andrew R.; Harper, Lorraine; Harris, Claire; Harrison, Claire; Hart, Daniel; Hassan, Ahamad; Hayman, Grant; Heemskerk, Johan W.M.; Hegde, Shivaram; Henderson, Alex; Henderson, Robert H.; Hensiek, Anke; Henskens, Yvonne M.C.; Hodgson, Joshua; Hoffman, Jonathan; Holden, Simon; Holder, Muriel; Horvath, Rita; Houlden, Henry; Houweling, Arjan C.; Howard, Luke S.; Hu, Fengyuan; Hudson, Gavin; Hughes, Sean; Hughes, Stephen; Huis in ‘t Veld, Anna E.; Humbert, Marc; Hurles, Matthew E.; Hurst, Jane A.; Irvine, Val; Izatt, Louise; James, Roger; Jeevaratnam, Praveen; Johnson, Mark; Johnson, Sally A.; Jolley, Jennifer D.; Jones, Bryony; Jones, Julie; Josifova, Dragana; Jurkute, Neringa; Karim, Yousuf M.; Karoshi, Mahantesh A.; Kasanicki, Mary A.; Kazkaz, Hanadi; Kazmi, Rashid; Keeling, David; Kelleher, Peter; Kelly, Anne M.; Kempster, Carly; Kennedy, Fiona; Kiani, Sorena; Kiely, David G.; Kingston, Nathalie; Kinsey, Sally; Klein, Nigel; Klima, Robert; Knox, Ellen; Kostadima, Myrto A.; Kovacs, Gabor; Koziell, Ania B.; Kreuzhuber, Roman; Krishnakumar, Deepa; Kuijpers, Taco W.; Kumar, Ajith; Kurian, Manju A.; Laffan, James; Laffan, Michael A.; Lalloo, Fiona; Lambert, Michele P.; Lawman, Sarah H.A.; Lawrie, Allan; Layton, D. Mark; Lear, Sara E.; Lees, Melissa M.; Lentaigne, Claire; Levine, Adam P.; Lewington, Andrew J.P.; Li, Wei; Liesner, Ri; Liu, Bin; Longhurst, Hilary; Lorenzo, Lorena E.; Louka, Eleni; Hadeler, Silvia Lucato; Lyons, Paul A.; Macdougall, Malcolm; Machado, Rajiv D.; MacKenzie Ross, Robert V.; Mackillop, Lucy H.; MacLaren, Robert; Madan, Bella; Magee, Laura; Mahdi-Rogers, Mohamed; Maher, Eamonn R.; Makris, Mike; Mangles, Sarah; Manson, Ania; Manzur, Adnan; Mapeta, Rutendo; Marchbank, Kevin J.; Mark, Patrick B.; Marks, Stephen; Markus, Hugh S.; Marschall, Hanns Ulrich; Marshall, Andrew; Martin, Jennifer M.; Masati, Larahmie; Mathias, Mary; Matser, Vera; Matthews, Emma L.; Maw, Anna; Maxwell, Heather; McAlinden, Paul; McCarthy, Mark I.; McDermott, Elizabeth M.; McGowan, Simon J.; McJannet, Coleen; McKinney, Harriet; Meacham, Stuart; Mead, Adam J.; Castello, Ignacio Medina; Meehan, Sharon; Mehta, Sarju; Mercer, Catherine L.; Michaelides, Michel; Michell, Anna C.; Milford, David; Millar, Carolyn M.; Millar, Hazel; Mistry, Anoop; Moenen, Floor; Moledina, Shahin; Montani, David; Moore, Anthony T.; Moore, Jason; Morrell, Nicholas W.; Morrisson, Valerie; Mozere, Monika; Muir, Keith W.; Mumford, Andrew D.; Murng, Sai H.K.; Nasir, Iman; Nejentsev, Sergey; Newnham, Michael; Ng, Joanne; Ngoh, Adeline; Noorani, Sadia; Noori, Muna; Nurden, Paquita; O’Sullivan, Jennifer M.; Obaji, Samya; Okoli, Steven; Oksenhendler, Eric; Olschewski, Andrea; Olschewski, Horst; Ong, Albert C.M.; Ong, Kai Ren; Oram, Helen; Ormondroyd, Elizabeth; Othman, Shokri; Ouwehand, Willem H.; Pantazis, Antonis; Papadia, Sofia; Papandreou, Apostolos; Park, Soo Mi; Parker, Alasdair P.J.; Parry, David; Parsons, Georgina; Pasi, K. John; Paterson, Joan; Payne, Jeanette H.; Peacock, Andrew J.; Peerlinck, Kathelijne; Pepke-Zaba, Joanna; Perry, David; Petersen, Romina; Piechowski-Jozwiak, Bartlomiej; Pinto, Fernando; Polwarth, Gary J.; Ponsford, Mark J.; Prasad, Sanjay; Prokopenko, Inga; Psaila, Beth; Pyle, Angela; Qasim, Waseem; Quinn, Ellen; Quinti, Isabella; Raina, Sanjay; Ranganathan, Lavanya; Rankin, Julia; Rankin, Stuart; Rao, Anupama; Raymond, F. Lucy; Rehnstrom, Karola; Reid, Evan; Reilly, Mary M.; Renton, Tara; Revel-Vilk, Shoshana; Rhodes, Christopher J.; Rice, Andrew S.C.; Richards, Emma E.; Richards, Mike; Richardson, Sylvia; Richter, Alex; Robert, Leema; Roberts, Irene; Rondina, Matthew T.; Rosser, Elisabeth; Rothwell, Peter; Roughley, Catherine; Roy, Noemi B.; Rue-Albrecht, Kevin; Sadeghi-Alavijeh, Omid; Saleem, Moin A.; Salmon, Richard M.; Samani, Nilesh J.; Sambrook, Jennifer G.; Sandford, Richard; Santra, Saikat; Satchell, Simon C.; Savic, Sinisa; Scelsi, Laura; Schotte, Gwen; Schulman, Sol; Schulze, Harald; Scott, Richard; Scully, Marie; Searle, Claire; Seeger, Werner; Sewell, W. A.Carrock; Seyres, Denis; Shackley, Fiona; Shamardina, Olga; Shapiro, Susan E.; Sharma, Pankaj; Shehata, Hassan A.; Shipley, Deborah; Shtoyerman, Rakefet; Sibson, Keith; Side, Lucy; Simpson, Michael; Sims, Matthew C.; Sinha, Manish D.; Sivapalaratnam, Suthesh; Skytte, Anne Bine; Smith, Kenneth G.C.; Snape, Katie; Sneddon, Linda; Sohal, Aman; Soubrier, Florent; Southgate, Laura; Southwood, Mark; Splitt, Miranda; Staines, Simon; Stark, Hannah; Stauss, Hans; Steele, Cathal L.; Stein, Daniel; Stein, Penelope E.; Stock, Sophie; Stubbs, Matthew J.; Suntharalingam, Jay; Swietlik, Emilia M.; Symington, Emily; Tait, R. Campbell; Talks, Kate; Tan, Rhea Y.Y.; Taylor, Gordon B.; Thachil, Jecko; Themistocleous, Andreas C.; Thomas, David C.; Thomas, Ellen; Thomas, Patrick; Thompson, Dorothy A.; Thomson, Kate; Thrasher, Adrian J.; Thys, Chantal; Tilly, Tobias; Tischkowitz, Marc; Titterton, Catherine; Todd, John A.; Toh, Cheng Hock; Tool, Anton T.J.; Toshner, Mark R.; Traylor, Matthew; Treacy, Carmen M.; Treadaway, Paul; Trembath, Richard C.; Trippier, Sarah; Tuna, Salih; Turek, Wojciech; Turro, Ernest; Upton, Paul D.; Urniaz, Rafal; Vale, Tom; Van Geet, Chris; van Zuydam, Natalie; Vandersteen, Anthony M.; Vazquez-Lopez, Marta; Veltman, Marijcke W.M.; Vogt, Julie; von Ziegenweidt, Julie; Noordegraaf, Anton Vonk; Vora, Ajay; Vries, Minka J.A.; Wakeling, Emma L.; Walker, Neil; Walker, Suellen M.; Walsh, Roddy; Wanjiku, Ivy; Ware, James S.; Warner, Timothy Q.; Wassmer, Evangeline; Watkins, Hugh; Watson, Henry G.; Watt, Christopher; Waugh, Dean; Webb, Nick; Webster, Andrew R.; Wei, Wei; Welch, Angela; Welch, Steven B.; Werring, David; Wessels, Julie; Westbury, Sarah K.; Westwood, John Paul W.; Wharton, John; Whitehorn, Deborah; Whitworth, James; Wilkins, Martin R.; Willcocks, Lisa; Williams, David J.; Williamson, Catherine; Wong, Edwin K.S.; Wood, Nicholas; Wood, Yvette; Woods, Christopher Geoffrey; Woodward, Emma R.; Workman, Sarita; Wort, Stephen J.; Yates, Katherine; Yeatman, Nigel; Yong, Patrick F.K.; Young, Timothy; Yu, Ping; Yu-Wai-Man, Patrick; Zlamalova, Eliska

Thaventhiran, J E D, Lango Allen, H, Burren, O S, Rae, W, Greene, D, Staples, E, Zhang, Z, Farmery, J H R, Simeoni, I, Rivers, E, Maimaris, J, Penkett, C J, Stephens, J, Deevi, S V V, Sanchis-Juan, A, Gleadall, N S, Thomas, M J, Sargur, R B, Gordins, P, Baxendale, H E, Brown, M, Tuijnenburg, P, Worth, A, Hanson, S, Linger, R J, Buckland, M S, Rayner-Matthews, P J, Gilmour, K C, Samarghitean, C, Seneviratne, S L, Sansom, D M, Lynch, A G, Megy, K, Ellinghaus, E, Ellinghaus, D, Jorgensen, S F, Karlsen, T H, Stirrups, K E, Cutler, A J, Kumararatne, D S, Chandra, A, Edgar, J D M, Herwadkar, A, Cooper, N, Grigoriadou, S, Huissoon, A P, Goddard, S, Jolles, S, Schuetz, C, Boschann, F, Abbs, S, Adhya, Z, Adlard, J, Afzal, M, Ahmed, I, Ahmed, M, Ahmed, S, Aitman, T J, Alachkar, H, Alamelu, J, Alikhan, R, Allen, C E, Allen, L, Allsup, D J, Alvi, A, Ambegaonkar, G, Anantharachagan, A, Ancliff, P, Anderson, J, Antrobus, R, Armstrong, R, Arno, G, Arumugakani, G, Arya, R, Ashford, S, Astle, W J, Attwood, A, Austin, S, Aydinok, Y, Ayub, W, Babbs, C, Bacchelli, C, Baglin, T, Bakchoul, T, Bariana, T K, Barratt, J, Barwell, J, Baski, J, Bates, R W, Batista, J, Baxendale, H E, Baynam, G, Bennett, D L, Bethune, C, Bhatnagar, N, Bibi, S, Bierzynska, A, Biss, T, Bitner-Glindzicz, M A K, Bleda, M, Blesneac, I, Boardman, B, Boddana, P, Bogaard, H J, Booth, C, Boyce, S, Bradley, J R, Brady, A, Breen, G, Brennan, P, Brewer, C, Briley, A, Brown, M, Brown, R, Browning, M J, Brownlie, M, Bryson, C J, Buchan, R J, Buck, J, Buckland, M S, Bueser, T, Diz, C B, Burns, S O, Burren, O S, Calleja, P, Carmichael, J, Carr-White, G, Carss, K J, Casey, R, Chalmers, E, Chambers, J, Chambers, J, Chan, M M Y, Chan, M V, Chandra, A, Cheng, F, Chinn, I K, Chinnery, P F, Chitre, M, Chong, S, Christian, M T, Church, C, Clement, E M, Brod, N C, Clifford, H, Clowes, V E, Coghlan, G, Colby, E, Cole, T R P, Collins, J H, Collins, P W, Condliffe, R, Cook, H T, Cook, S, Cookson, V, Cooper, N, Corris, P A, Creaser-Myers, A, Crisp-Hihn, A, Curry, N S, Cutler, A J, Da Costa, R, Danesino, C, Daniels, M J, Darby, D, Daugherty, L C, Davies, E G, Davies, S, Davis, J, de Bree, G J, Deacock, S, Deegan, P B, Deevi, S V V, Dempster, J, Dent, T, Deshpande, C, Devlin, L A, Dewhurst, E F, Dixit, A K, Dixon, P H, Doffinger, R, Dolling, H, Dormand, N, Downes, K, Drazyk, A M, Drewe, E, Duarte, D, Dutt, T, Edgar, J D M, Edwards, K E, Egner, W, Ekani, M N, El-Shanawany, T, Elkhalifa, S, Elston, T, Emmerson, I, Erber, W N, Erwood, M, Estiu, M C, Evans, D G, Evans, G, Everington, T, Eyries, M, Farmery, J H R, Favier, R, Firth, H V, Fitzpatrick, M M, Fletcher, D, Flinter, F A, Fox, J C, Frary, A J, French, C E, Freson, K, Frontini, M, Furie, B, Gale, D P, Gall, H J, Gardham, A, Gaspar, H B, Gattens, M, Ghali, N, Ghataorhe, P K, Ghio, S, Ghofrani, H A, Ghurye, R, Gibbs, J S R, Gilbert, R D, Gilmour, K C, Girerd, B, Girling, J C, Gissen, P, Gleadall, N S, Goddard, S, Gordins, P, Gorman, K M, Gosal, D, Graf, S, Grassi, L, Greene, D, Greenhalgh, A J, Greenhalgh, L, Greinacher, A, Gresele, P, Griffiths, P G, Griffiths, S, Grigoriadou, S, Grozeva, D, Hackett, S J, Hadden, R D M, Hadinnapola, C, Hague, R, Hague, W M, Haimel, M, Hall, M, Halmagyi, C, Hammerton, T, Hanson, H L, Harkness, K, Harper, A R, Harper, L, Harris, C, Harrison, C, Hart, D, Hassan, A, Hayman, G, Heemskerk, J W M, Hegde, S, Henderson, A, Henderson, R H, Hensiek, A, Henskens, Y M C, Herwadkar, A, Hodgson, J, Hoffman, J, Holden, S, Holder, M, Horvath, R, Houlden, H, Houweling, A C, Howard, L S, Hu, F, Hudson, G, Hughes, S, Hughes, S, Huis in ‘t Veld, A E, Huissoon, A P, Humbert, M, Hurles, M E, Hurst, J A, Irvine, V, Izatt, L, James, R, Jeevaratnam, P, Johnson, M, Johnson, S A, Jolles, S, Jolley, J D, Jones, B, Jones, J, Josifova, D, Jurkute, N, Karim, Y M, Karoshi, M A, Kasanicki, M A, Kazkaz, H, Kazmi, R, Keeling, D, Kelleher, P, Kelly, A M, Kempster, C, Kennedy, F, Kiani, S, Kiely, D G, Kingston, N, Kinsey, S, Klein, N, Klima, R, Knox, E, Kostadima, M A, Kovacs, G, Koziell, A B, Kreuzhuber, R, Krishnakumar, D, Kuijpers, T W, Kumar, A, Kumararatne, D S, Kurian, M A, Laffan, J, Laffan, M A, Lalloo, F, Lambert, M P, Lango Allen, H, Lawman, S H A, Lawrie, A, Layton, D M, Lear, S E, Lees, M M, Lentaigne, C, Levine, A P, Lewington, A J P, Li, W, Liesner, R, Linger, R J, Liu, B, Longhurst, H, Lorenzo, L E, Louka, E, Hadeler, S L, Lyons, P A, Macdougall, M, Machado, R D, MacKenzie Ross, R V, Mackillop, L H, MacLaren, R, Madan, B, Magee, L, Mahdi-Rogers, M, Maher, E R, Maimaris, J, Makris, M, Mangles, S, Manson, A, Manzur, A, Mapeta, R, Marchbank, K J, Mark, P B, Marks, S, Markus, H S, Marschall, H U, Marshall, A, Martin, J M, Masati, L, Mathias, M, Matser, V, Matthews, E L, Maw, A, Maxwell, H, McAlinden, P, McCarthy, M I, McDermott, E M, McGowan, S J, McJannet, C, McKinney, H, Meacham, S, Mead, A J, Castello, I M, Meehan, S, Megy, K, Mehta, S, Mercer, C L, Michaelides, M, Michell, A C, Milford, D, Millar, C M, Millar, H, Mistry, A, Moenen, F, Moledina, S, Montani, D, Moore, A T, Moore, J, Morrell, N W, Morrisson, V, Mozere, M, Muir, K W, Mumford, A D, Murng, S H K, Nasir, I, Nejentsev, S, Newnham, M, Ng, J, Ngoh, A, Noorani, S, Noori, M, Nurden, P, O’Sullivan, J M, Obaji, S, Okoli, S, Oksenhendler, E, Olschewski, A, Olschewski, H, Ong, A C M, Ong, K R, Oram, H, Ormondroyd, E, Othman, S, Ouwehand, W H, Pantazis, A, Papadia, S, Papandreou, A, Park, S M, Parker, A P J, Parry, D, Parsons, G, Pasi, K J, Paterson, J, Payne, J H, Peacock, A J, Peerlinck, K, Penkett, C J, Pepke-Zaba, J, Perry, D, Petersen, R, Piechowski-Jozwiak, B, Pinto, F, Polwarth, G J, Ponsford, M J, Prasad, S, Prokopenko, I, Psaila, B, Pyle, A, Qasim, W, Quinn, E, Quinti, I, Raina, S, Ranganathan, L, Rankin, J, Rankin, S, Rao, A, Raymond, F L, Rayner-Matthews, P J, Rehnstrom, K, Reid, E, Reilly, M M, Renton, T, Revel-Vilk, S, Rhodes, C J, Rice, A S C, Richards, E E, Richards, M, Richardson, S, Richter, A, Robert, L, Roberts, I, Rondina, M T, Rosser, E, Rothwell, P, Roughley, C, Roy, N B, Rue-Albrecht, K, Sadeghi-Alavijeh, O, Saleem, M A, Salmon, R M, Samani, N J, Samarghitean, C, Sambrook, J G, Sanchis-Juan, A, Sandford, R, Santra, S, Sargur, R B, Satchell, S C, Savic, S, Scelsi, L, Schotte, G, Schulman, S, Schulze, H, Scott, R, Scully, M, Searle, C, Seeger, W, Seneviratne, S L, Sewell, W A C, Seyres, D, Shackley, F, Shamardina, O, Shapiro, S E, Sharma, P, Shehata, H A, Shipley, D, Shtoyerman, R, Sibson, K, Side, L, Simeoni, I, Simpson, M, Sims, M C, Sinha, M D, Sivapalaratnam, S, Skytte, A B, Smith, K G C, Snape, K, Sneddon, L, Sohal, A, Soubrier, F, Southgate, L, Southwood, M, Splitt, M, Staines, S, Staples, E, Stark, H, Stauss, H, Steele, C L, Stein, D, Stein, P E, Stephens, J, Stirrups, K E, Stock, S, Stubbs, M J, Suntharalingam, J, Swietlik, E M, Symington, E, Tait, R C, Talks, K, Tan, R Y Y, Taylor, G B, Thachil, J, Thaventhiran, J E D, Themistocleous, A C, Thomas, D C, Thomas, E, Thomas, M J, Thomas, P, Thompson, D A, Thomson, K, Thrasher, A J, Thys, C, Tilly, T, Tischkowitz, M, Titterton, C, Todd, J A, Toh, C H, Tool, A T J, Toshner, M R, Traylor, M, Treacy, C M, Treadaway, P, Trembath, R C, Trippier, S, Tuna, S, Turek, W, Turro, E, Upton, P D, Urniaz, R, Vale, T, Van Geet, C, van Zuydam, N, Vandersteen, A M, Vazquez-Lopez, M, Veltman, M W M, Vogt, J, von Ziegenweidt, J, Noordegraaf, A V, Vora, A, Vries, M J A, Wakeling, E L, Walker, N, Walker, S M, Walsh, R, Wanjiku, I, Ware, J S, Warner, T Q, Wassmer, E, Watkins, H, Watson, H G, Watt, C, Waugh, D, Webb, N, Webster, A R, Wei, W, Welch, A, Welch, S B, Werring, D, Wessels, J, Westbury, S K, Westwood, J P W, Wharton, J, Whitehorn, D, Whitworth, J, Wilkins, M R, Willcocks, L, Williams, D J, Williamson, C, Wong, E K S, Wood, N, Wood, Y, Woods, C G, Woodward, E R, Workman, S, Wort, S J, Worth, A, Yates, K, Yeatman, N, Yong, P F K, Young, T, Yu, P, Yu-Wai-Man, P, Zlamalova, E, Lyons, P A, Hurles, M E, Savic, S, Burns, S O, Kuijpers, T W, Turro, E, Ouwehand, W H, Thrasher, A J, Smith, K G C & Primary Immunodeficiency Consortium for the NIHR Bioresource 2020, 'Publisher Correction : Whole-genome sequencing of a sporadic primary immunodeficiency cohort (Nature, (2020), 583, 7814, (90-95), 10.1038/s41586-020-2265-1)', Nature, vol. 584, no. 7819, pp. E2. https://doi.org/10.1038/s41586-020-2556-6

Stimpson, Georgia; Raquq, Sarah; Chesshyre, Mary; Fewtrell, Mary; Ridout, Deborah; Sarkozy, Anna; Manzur, Adnan; Ayyar Gupta, Vandana; De Amicis, Ramona; Muntoni, Francesco; Baranello, Giovanni; Ambegaonkar, Gautam; Alhaswani, Zoya; Baxter, Alex; Childs, Anne-Marie; Chow, Gabby; De Goede, Christian; Fernandez, Miguel; Gibbon, Frances; Gowda, Vasantha; Guglieri, Michela; Hart, Tony; Hewawitharana, Gemunu; Horrocks, Iain; Hughes, Imelda; Illingworth, Marjorie; Krishnakumar, Deepa; Majumdar, Anirban; Marini-Bettolo, Chiara; Ong, Min; Parasuraman, Deepak; Ramdas, Sithara; Servais, Laurent; Skone, Kate; Spinty, Stefan; Stephens, Elma; Straub, Volker; Tirupathi, Sandya; Thomas, Neil; Willis, Tracey; White, Cathy; Wong, Jarod; Wraige, Elizabeth; Vijayakumar, Kayal; Naismith, Karen

Orphanet Journal of Rare Diseases. January 24, 2022, Vol. 17 Issue 1

Wong, Mei Chi Michi; Ambegaonkar, Gautam

Paediatrics and Child Health. 23(4):183-186

Schon, Katherine; Spasic-Boskovic, Olivera; Brugger, Kim; Graves, Tracey D.; Abbs, Stephen; Park, Soo-Mi; Ambegaonkar, Gautam; Armstrong, Ruth

neurogenetics. :1-7

Ambegaonkar, Gautam; Manzur, Adnan Y.; Robb, Stephanie A.; Kinali, Maria; Muntoni, Francesco

European Journal of Paediatric Neurology. 15(4):316-319

McTague, Amy; Nair, Umesh; Malhotra, Sony; Meyer, Esther; Trump, Natalie; Gazina, Elena V.; Papandreou, Apostolos; Ngoh, Adeline; Ackermann, Sally; Ambegaonkar, Gautam; Appleton, Richard; Desurkar, Archana; Eltze, Christin; Kneen, Rachel; Kumar, Ajith V.; Lascelles, Karine; Montgomery, Tara; Ramesh, Venkateswaran; Samanta, Rajib; Scott, Richard H.; Tan, Jeen; Whitehouse, William; Poduri, Annapurna; Scheffer, Ingrid E.; Chong, W.K. “Kling”; Cross, J. Helen; Topf, Maya; Petrou, Steven; Kurian, Manju A.

Neurology. Jan 02, 2018 90(1):e55-e66

Schindler, Nicholas; Ambegaonkar, Gautam

Archives of Disease in Childhood. Mar 01, 2017 102(3):292-293