Joy Yaplito‐Lee

2.5k citations

29 papers · 1.1k indexed · h-index 17

Impact in

Clinical Biochemistry top 0.5%
- Metabolism and Genetic Disorders
Rheumatology top 10%
- Folate and B Vitamins Research

Papers in

Clinical Biochemistry 11
- Metabolism and Genetic Disorders 11
Rheumatology 6
- Folate and B Vitamins Research 5

Co-authors: Avihu Boneh Heidi Peters James Pitt David R. Thorburn David Coman Shanti Balasubramaniam Jane Halliday Kate Gibson
Journals: Molecular Genetics and Metabolism (8 papers)PEDIATRICS (3 papers)Journal of Inherited Metabolic Disease (2 papers)The Journal of Pediatrics (1 paper)Orphanet Journal of Rare Diseases (1 paper)
Partner nations: Australia United States Germany

In The Last Decade

Joy Yaplito‐Lee

29 papers receiving 1.1k citations

Peers

Countries citing papers authored by Joy Yaplito‐Lee

Since Specialization

Citations

This map shows the geographic impact of Joy Yaplito‐Lee's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Joy Yaplito‐Lee with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Joy Yaplito‐Lee more than expected).

Fields of papers citing papers by Joy Yaplito‐Lee

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Joy Yaplito‐Lee. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Joy Yaplito‐Lee. The network helps show where Joy Yaplito‐Lee may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Joy Yaplito‐Lee, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Joy Yaplito‐Lee Line = papers co-authored together Joy Yaplito‐Lee links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review JIMD Reports ·N Waiyanate, 末松伸一, James Pitt, ANNE KORKEAKIVI, S. Mukamil, José Everardo Macêdo, Moya Vandeleur, Martin B. Delatycki, Joy Yaplito‐Lee, Winita Hardikar, Mahmoud Abd Elmoamen	2023	2
2	A cryptic pathogenic NDUFV1 variant identified by RNA‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes American Journal of Medical Genetics Part A ·伍天云, John Christodoulou, David R. Thorburn, Jeremy L. Freeman, Andrew J. Kornberg, Simone Mandelstam, Alison G. Compton, Beryl B. Cummings, Lynn Pais, Joy Yaplito‐Lee, Susan M. White	2023	3
3	The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain Molecular Genetics and Metabolism ·Nurul Syamsi Ekowati, Richard J. N. Allcock, Joy Yaplito‐Lee, Christina Elmer, Carolyn Ellaway, Kristi Jones, Arthavan Selvanathan, Janice M. Fletcher, James Pitt, André B. P. Kuilenburg, Martin B. Delatycki, Nigel G. Laing, Edwin P. Kirk	2022	2
4	Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder European Journal of Medical Genetics ·Guy Helman, Masato Kato, Marzena Walkiewicz, Lars Chrisflan Petersen, Stefanie Eggers, Joy Yaplito‐Lee, Maria Fuller, 養豚ん小野, Victoria Rodriguez‐Casero, Susan M. White, Cas Simons	2021	2
5	FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children Molecular Genetics and Metabolism ·Lisa G. Riley, Jose Tinajero, Minal Menezes, Manuel Gutierrez Cuadra, Andrew Williams, Elizabeth H Barnes, Arthavan Selvanathan, Kazimierz Kleczkowaki, Drago Bratkovic, Joy Yaplito‐Lee, Kaustuv Bhattacharya, Carolyn Ellaway, Maina Kava, Shanti Balasubramaniam, John Christodoulou	2021	15
6	Riboflavin metabolism: role in mitochondrial function Shanti Balasubramaniam, Joy Yaplito‐Lee	2020	38
7	Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease JIMD Reports ·Monmon Podder, Eppie M. Yiu, Alison Yeung, Jeremy L. Freeman, Chloe Stutterd, Richard J. Leventer, Adeline Vanderver, Joy Yaplito‐Lee	2019	5
8	Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome Seminars in Pediatric Neurology ·Ian Woodcock, Manoj P. Menezes, Lee Coleman, Joy Yaplito‐Lee, Heidi Peters, Susan M. White, Rachel Stapleton, Dean Phelan, Belinda Chong, Sebastian Lunke, Zornitza Stark, James Pitt, Monique M. Ryan, Colin F. Robertson, Eppie M. Yiu	2017	25
9	A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients Journal of Inherited Metabolic Disease ·Ewa Pronicka, Mariola Ropacka‐Lesiak, Joanna Trubicka, Magdalena Pajdowska, Hari Swarup Jammulamadaka, Elsebet Østergaard, Carol Saunders, Sandra Horsch, Clara van Karnebeek, Joy Yaplito‐Lee, Felix Distelmaier, Katrin Õunap, Shamima Rahman, Martin Castelle, John F. Kelleher, Safa Barış, Katarzyna Iwanicka‐Pronicka, Colin G. Steward, Elżbieta Ciara, Saskia B. Wortmann, (unknown)	2017	20
10	Rmnd1 Mutations Are Associated with Autosomal Recessive Syndromic Nephropathy Nephrology ·Andrew J. Mallett, Dylan Mordaunt, I. Sändig, A M Walker, G Polak, Heiko Peters, Sierra R. White, Zornitza Stark, Peter Trnka, Chirag Patel, Jackie Crawford, Vanessa Da Silva Lima, Elizabeth Farnsworth, Gladys Ho, S. Alexander, Bruce Bennetts, Helen Healy, Melissa H. Little, Cas Simons, Joy Yaplito‐Lee	2015	1
11	ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism Brain ·Heidi Peters, Ali Qassem Atwan, Ronald J. A. Wanders, Jos P.N. Ruiter, Hans R. Waterham, Janet Koster, Joy Yaplito‐Lee, Sacha Ferdinandusse, James Pitt	2014	100
12	SURF1 deficiency: a multi-centre natural history study Orphanet Journal of Rare Diseases ·Yehani Wedatilake, Ruth M. Brown, Robert McFarland, Joy Yaplito‐Lee, Andrew A. M. Morris, Mike Champion, C H Fang, Antonia Clarke, David R. Thorburn, Robert W. Taylor, John M. Land, Katharine Forrest, Angus Dobbie, Louise Simmons, Erlend T. Aasheim, David Ketteridge, Donncha Hanrahan, Anupam Chakrapani, Garry K. Brown, Shamima Rahman	2013	91
13	Histopathological findings in livers of patients with urea cycle disorders Molecular Genetics and Metabolism ·Joy Yaplito‐Lee, R.M. Bertina, Avihu Boneh	2013	40
14	ALG3-CDG (CDG-Id): Clinical, biochemical and molecular findings in two siblings Molecular Genetics and Metabolism ·박가열, Dinah Reddihough, Katherine B. Howell, Charuta Dagia, Jaak Jaeken, Gert Matthijs, Joy Yaplito‐Lee	2013	12
15	A retrospective audit of anesthetic techniques and complications in children with mucopolysaccharidoses Pediatric Anesthesia ·Geoff Frawley, オープンテクノロジーズ, Susan Donath, Joy Yaplito‐Lee, Heidi Peters	2012	42
16	NEWBORN SCREENING BY TANDEM MASS SPECTROMETRY: A COHORT STUDY COMPARING OUTCOME IN SCREENED AND CLINICALLY DIAGNOSED PATIENTS AT SIX YEARS OF AGE Molecular Genetics and Metabolism ·Bridget Wilcken, Robertas Veršinskas, Pamela Joy, Veronica Wiley, Francis Bowling, Kevin Carpenter, John Christodoulou, David Cowley, Mohamed Khadr, J. M. Fletcher, Takami Yasukage, B. V. Lewis, Mohammad Shibly Khan, Harm Peters, James Pitt, Enzo Ranieri, Joy Yaplito‐Lee, Avihu Boneh	2009	1
17	New indications and controversies in arginine therapy Clinical Nutrition ·David Coman, Joy Yaplito‐Lee, Avihu Boneh	2008	71
18	Newborn screening for glutaric aciduria type I in Victoria: Treatment and outcome Molecular Genetics and Metabolism ·Avihu Boneh, Miriam H. Beauchamp, Ashirwad Ray, Shu-qiao Hu, Heidi Peters, Joy Yaplito‐Lee	2008	42
19	Cardiac Manifestations in Oxidative Phosphorylation Disorders of Childhood The Journal of Pediatrics ·Joy Yaplito‐Lee, Robert G. Weintraub, Beate Buettgenbach, C.W. Chow, David R. Thorburn, Avihu Boneh	2007	51
20	VLCAD deficiency: Pitfalls in newborn screening and confirmation of diagnosis by mutation analysis Molecular Genetics and Metabolism ·Avihu Boneh, Brage Storstein Andresen, N. Gregersen, 王碧珍, Ji Xian Yang, Heidi Peters, Joy Yaplito‐Lee, James Pitt	2006	76

About Joy Yaplito‐Lee

Joy Yaplito‐Lee is a scholar working on Clinical Biochemistry, Rheumatology, Physiology, Nephrology and Biochemistry, having authored 29 papers that have together received 1.1k indexed citations. Recurring topics across this work include Metabolism and Genetic Disorders (11 papers), Mitochondrial Function and Pathology (7 papers), Lysosomal Storage Disorders Research (5 papers), RNA modifications and cancer (5 papers), Folate and B Vitamins Research (5 papers), Neonatal Health and Biochemistry (4 papers), Genomics and Rare Diseases (3 papers) and RNA regulation and disease (3 papers). The work is most often cited by research in Clinical Biochemistry (575 citations), Rheumatology (163 citations), Biochemistry (78 citations), Molecular Biology (653 citations) and Pediatrics, Perinatology and Child Health (164 citations). Joy Yaplito‐Lee has collaborated with scholars based in Australia, United States and Germany. Frequent co-authors include Avihu Boneh, Heidi Peters, James Pitt, David R. Thorburn, David Coman, Shanti Balasubramaniam, Jane Halliday, Kate Gibson, Denise M. Kirby and Günter Schwarz. Their work appears in journals such as Molecular Genetics and Metabolism, PEDIATRICS, Journal of Inherited Metabolic Disease, The Journal of Pediatrics and Orphanet Journal of Rare Diseases.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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