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J

Joy Yaplito‐Lee

the royal children’s hospital

25H-index
46Paper Count
2.5KCitation Count
Published Papers 22
Publication Date
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
err2025-10-22
err0
errOAAI
errReza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein
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The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain
err2022-09-01
err3
PREAI
errRighetti, Sarah; Allcock, Richard J. N.; Yaplito-Lee, Joy; Adams, Louisa; Ellaway, Carolyn; Jones, Kristi J.; Selvanathan, Arthavan; Fletcher, Janice; Pitt, James; van Kuilenburg, Andre B. P.; Delatycki, Martin B.; Laing, Nigel G.; Kirk, Edwin P.
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FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children
err2022-01-01
err16
PREAI
errRiley, Lisa G.; Nafisinia, Michael; Menezes, Minal J.; Nambiar, Reta; Williams, Andrew; Barnes, Elizabeth H.; Selvanathan, Arthavan; Lichkus, Kate; Bratkovic, Drago; Yaplito-Lee, Joy; Bhattacharya, Kaustuv; Ellaway, Carolyn; Kava, Maina; Balasubramaniam, Shanti; Christodoulou, John
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A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
err2016-11-01
err294
errOAAI
errStark, Zornitza; Tan, Tiong Y.; Chong, Belinda; Brett, Gemma R.; Yap, Patrick; Walsh, Maie; Yeung, Alison; Peters, Heidi; Mordaunt, Dylan; Cowie, Shannon; Amor, David J.; Savarirayan, Ravi; McGillivray, George; Downie, Lilian; Ekert, Paul G.; Theda, Christiane; James, Paul A.; Yaplito-Lee, Joy; Ryan, Monique M.; Leventer, Richard J.; Creed, Emma; Macciocca, Ivan; Bell, Katrina M.; Oshlack, Alicia; Sadedin, Simon; Georgeson, Peter; Anderson, Charlotte; Thorne, Natalie; Gaff, Clara; White, Susan M.
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ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
err2016-03-21
err41
errOAAI
errNg, Bobby G.; Shiryaev, Sergey A.; Rymen, Daisy; Eklund, Erik A.; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E.; Alehan, Fusun; Midro, Alina T.; Bamshad, Michael J.; Barone, Rita; Berry, Gerard T.; Brumbaugh, Jane E.; Buckingham, Kati J.; Clarkson, Katie; Cole, F. Sessions; O'Connor, Shawn; Cooper, Gregory M.; Van Coster, Rudy; Demmer, Laurie A.; Diogo, Luisa; Fay, Alexander J.; Ficicioglu, Can; Fiumara, Agata; Gahl, William A.; Ganetzky, Rebecca; Goel, Himanshu; Harshman, Lyndsay A.; He, Miao; Jaeken, Jaak; James, Philip M.; Katz, Daniel; Keldermans, Liesbeth; Kibaek, Maria; Kornberg, Andrew J.; Lachlan, Katherine; Lam, Christina; Yaplito-Lee, Joy; Nickerson, Deborah A.; Peters, Heidi L.; Race, Valerie; Regal, Luc; Rush, Jeffrey S.; Rutledge, S. Lane; Shendure, Jay; Souche, Erika; Sparks, Susan E.; Trapane, Pamela; Sanchez-Valle, Amarilis; Vilain, Eric; Vollo, Arve; Waechter, Charles J.; Wang, Raymond Y.; Wolfe, Lynne A.; Wong, Derek A.; Wood, Tim; Yang, Amy C.; Washington, Univ; Matthijs, Gert; Freeze, Hudson H.
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CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder
err2015-02-01
err101
errOAAI
errWortmann, Saskia B.; Zietkiewicz, Szymon; Kousi, Maria; Szklarczyk, Radek; Haack, Tobias B.; Gersting, Soren W.; Muntau, Ania C.; Rakovic, Aleksandar; Renkema, G. Herma; Rodenburg, Richard J.; Strom, Tim M.; Meitinger, Thomas; Rubio-Gozalbo, M. Estela; Chrusciel, Elzbieta; Distelmaier, Felix; Golzio, Christelle; Jansen, Joop H.; van Karnebeek, Clara; Lillquist, Yolanda; Luecke, Thomas; Ounap, Katrin; Zordania, Riina; Yaplito-Lee, Joy; van Bokhoven, Hans; Spelbrink, Johannes N.; Vaz, Frederic M.; Pras-Raves, Mia; Ploski, Rafal; Pronicka, Ewa; Klein, Christine; Willemsen, Michel A. A. P.; de Brouwer, Arjan P. M.; Prokisch, Holger; Katsanis, Nicholas; Wevers, Ron A.
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ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism
errBRAIN
IF11.7
err2014-08-14
err103
errOAAI
errPeters, Heidi; Buck, Nicole; Wanders, Ronald; Ruiter, Jos; Waterham, Hans; Koster, Janet; Yaplito-Lee, Joy; Ferdinandusse, Sacha; Pitt, James
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De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea
err2014-05-01
err62
errOAAI
errXia, Fan; Bainbridge, Matthew N.; Tan, Tiong Yang; Wangler, Michael F.; Scheuerle, Angela E.; Zackai, Elaine H.; Harr, Margaret H.; Sutton, V. Reid; Nalam, Roopa L.; Zhu, Wenmiao; Nash, Margot; Ryan, Monique M.; Yaplito-Lee, Joy; Hunter, Jill V.; Deardorff, Matthew A.; Penney, Samantha J.; Beaudet, Arthur L.; Plon, Sharon E.; Boerwinkle, Eric A.; Lupski, James R.; Eng, Christine M.; Muzny, Donna M.; Yang, Yaping; Gibbs, Richard A.
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Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood
err2014-03-01
err76
errOAAI
errvan Karnebeek, Clara D.; Sly, William S.; Ross, Colin J.; Salvarinova, Ramona; Yaplito-Lee, Joy; Santra, Saikat; Shyr, Casper; Horvath, Gabriella A.; Eydoux, Patrice; Lehman, Anna M.; Bernard, Virginie; Newlove, Theresa; Ukpeh, Henry; Chakrapani, Anupam; Preece, Mary Anne; Ball, Sarah; Pitt, James; Vallance, Hilary D.; Coulter-Mackie, Marion; Nguyen, Hien; Zhang, Lin-Hua; Bhavsar, Amit P.; Sinclair, Graham; Waheed, Abdul; Wasserman, Wyeth W.; Stockler-Ipsiroglu, Sylvia
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ALG3-CDG (CDG-Id): Clinical, biochemical and molecular findings in two siblings
err2013-09-01
err16
PREAI
errRiess, Suzi; Reddihough, Dinah Susan; Howell, Katherine Brooke; Dagia, Charuta; Jaeken, Jaak; Matthijs, Gert; Yaplito-Lee, Joy
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SURF1 deficiency: a multi-centre natural history study
err2013-07-05
err96
errOAAI
errWedatilake, Yehani; Brown, Ruth M.; McFarland, Robert; Yaplito-Lee, Joy; Morris, Andrew A. M.; Champion, Mike; Jardine, Phillip E.; Clarke, Antonia; Thorburn, David R.; Taylor, Robert W.; Land, John M.; Forrest, Katharine; Dobbie, Angus; Simmons, Louise; Aasheim, Erlend T.; Ketteridge, David; Hanrahan, Donncha; Chakrapani, Anupam; Brown, Garry K.; Rahman, Shamima
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Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
err2013-05-03
err114
errOAAI
errvan de Kamp, J. M.; Betsalel, O. T.; Mercimek-Mahmutoglu, S.; Abulhoul, L.; Gruenewald, S.; Anselm, I.; Azzouz, H.; Bratkovic, D.; de Brouwer, A.; Hamel, B.; Kleefstra, T.; Yntema, H.; Campistol, J.; Vilaseca, M. A.; Cheillan, D.; D'Hooghe, M.; Diogo, L.; Garcia, P.; Valongo, C.; Fonseca, M.; Frints, S.; Wilcken, B.; von der Haar, S.; Meijers-Heijboer, H. E.; Hofstede, F.; Johnson, D.; Kant, S. G.; Lion-Francois, L.; Pitelet, G.; Longo, N.; Maat-Kievit, J. A.; Monteiro, J. P.; Munnich, A.; Muntau, A. C.; Nassogne, M. C.; Osaka, H.; Ounap, K.; Pinard, J. M.; Quijano-Roy, S.; Poggenburg, I.; Poplawski, N.; Abdul-Rahman, O.; Ribes, A.; Arias, A.; Yaplito-Lee, J.; Schulze, A.; Schwartz, C. E.; Schwenger, S.; Soares, G.; Sznajer, Y.; Valayannopoulos, V.; Van Esch, H.; Waltz, S.; Wamelink, M. M. C.; Pouwels, P. J. W.; Errami, A.; van der Knaap, M. S.; Jakobs, C.; Mancini, G. M.; Salomons, G. S.
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Successful Treatment of Molybdenum Cofactor Deficiency Type A With cPMP
err2010-05-01
err146
PREAI
errVeldman, Alex; Santamaria-Araujo, Jose Angel; Sollazzo, Silvio; Pitt, James; Gianello, Robert; Yaplito-Lee, Joy; Wong, Flora; Ramsden, Clive Andrew; Reiss, Jochen; Cook, Iain; Fairweather, Jon; Schwarz, Guenter
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Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X) (p11.4p21.1)
err2010-03-01
err5
PREAI
errComan, David; Yaplito-Lee, Joy; La, Phung; Nasioulas, Steven; Bruno, Damien; Slater, Howard R.; Stock-Myer, Sharyn E.; Lynch, Elly L.; Gardner, R. J. McKinlay
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Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years
err2009-08-01
err131
PREAI
errWilcken, Bridget; Haas, Marion; Joy, Pamela; Wiley, Veronica; Bowling, Francis; Carpenter, Kevin; Christodoulou, John; Cowley, David; Ellaway, Carolyn; Fletcher, Janice; Kirk, Edwin P.; Lewis, Barry; McGill, Jim; Peters, Heidi; Pitt, James; Ranieri, Enzo; Yaplito-Lee, Joy; Boneh, Avihu
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Mitochondrial Oxidative Phosphorylation Disorders Presenting in Neonates: Clinical Manifestations and Enzymatic and Molecular Diagnoses
err2008-11-01
err67
PREAI
errGibson, Kate; Halliday, Jane L.; Kirby, Denise M.; Yaplito-Lee, Joy; Thorburn, David R.; Boneh, Avihu
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New indications and controversies in arginine therapy
err2008-08-01
err71
PREAI
errComan, David; Yaplito-Lee, Joy; Boneh, Avihu
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Newborn screening for glutaric aciduria type I in Victoria: Treatment and outcome
err2008-07-01
err46
PREAI
errBoneh, Avihu; Beauchamp, Miriam; Humphrey, Maureen; Watkins, Jemma; Peters, Heidi; Yaplito-Lee, Joy
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β-Ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems
err2008-02-01
err21
PREAI
errYaplito-Lee, J.; Pitt, J.; Meijer, J.; Zoetekouw, L.; Meinsma, R.; van Kullenburg, A. B. P.
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