Joy Yaplito-Lee

Publication Activity (10 Years)

Years Active: 2016-2023
Publications (10 Years): 7

Top Topics

End Stage Renal Disease

Top Venues

Journal of inherited metabolic disease

Genetics in medicine : official journal of the American College of Medical Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Merel A Post, Isis de Wit, Fokje S M Zijlstra, Udo F H Engelke, Arno van Rooij, John Chrisodoulou, Tiong Yang Tan, Anna Le Fevre, Danqun Jin, Joy Yaplito-Lee, Beom Hee Lee, Karen J Low, Andrew A Mallick, Katrin Õunap, James Pitt, William Reardon, Mari-Anne Vals, Saskia B Wortmann, Hans J C T Wessels, Melissa Bärenfänger, Clara D M van Karnebeek, Dirk J Lefeber
MOGS-CDG: quantitative analysis of the diagnostic Glc 3 Man tetrasaccharide and clinical spectrum of six new cases. Journal of inherited metabolic disease (2023)
Isabelle Adant, Joy Yaplito-Lee, Sharmila Kiss
Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant. Journal of inherited metabolic disease (2023)
Isabelle Adant, Joy Yaplito-Lee, Sharmila Kiss
Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant. Journal of inherited metabolic disease (2023)
Merel A Post, Isis de Wit, Fokje S M Zijlstra, Udo F H Engelke, Arno van Rooij, John Chrisodoulou, Tiong Yang Tan, Anna Le Fevre, Danqun Jin, Joy Yaplito-Lee, Beom Hee Lee, Karen J Low, Andrew A Mallick, Katrin Õunap, James Pitt, William Reardon, Mari-Anne Vals, Saskia B Wortmann, Hans J C T Wessels, Melissa Bärenfänger, Clara D M van Karnebeek, Dirk J Lefeber
MOGS-CDG: Quantitative analysis of the diagnostic Glc 3 Man tetrasaccharide and clinical spectrum of six new cases. Journal of inherited metabolic disease 46 (2) (2023)
Merel A Post, Isis de Wit, Fokje S M Zijlstra, Udo F H Engelke, Arno van Rooij, John Chrisodoulou, Tiong Yang Tan, Anna Le Fevre, Danqun Jin, Joy Yaplito-Lee, Beom Hee Lee, Karen J Low, Andrew A Mallick, Katrin Õunap, James Pitt, William Reardon, Mari-Anne Vals, Saskia B Wortmann, Hans J C T Wessels, Melissa Bärenfänger, Clara D M van Karnebeek, Dirk J Lefeber
MOGS-CDG: Quantitative analysis of the diagnostic Glc 3 Man tetrasaccharide and clinical spectrum of six new cases. Journal of inherited metabolic disease (2023)
Merel A Post, Isis de Wit, Fokje S M Zijlstra, Udo F H Engelke, Arno van Rooij, John Chrisodoulou, Tiong Yang Tan, Anna Le Fevre, Danqun Jin, Joy Yaplito-Lee, Beom Hee Lee, Karen J Low, Andrew A Mallick, Katrin Õunap, James Pitt, William Reardon, Mari-Anne Vals, Saskia B Wortmann, Hans J C T Wessels, Melissa Bärenfänger, Clara D M van Karnebeek, Dirk J Lefeber
MOGS-CDG: Quantitative analysis of the diagnostic Glc 3 Man tetrasaccharide and clinical spectrum of six new cases. Journal of inherited metabolic disease 46 (2) (2023)
Zornitza Stark, Tiong Y Tan, Belinda Chong, Gemma R Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan A Mordaunt, Shannon Cowie, David J Amor, Ravi Savarirayan, George McGillivray, Lilian Downie, Paul G Ekert, Christiane Theda, Paul A James, Joy Yaplito-Lee, Monique M Ryan, Richard J Leventer, Emma Creed, Ivan Macciocca, Katrina M Bell, Alicia Oshlack, Simon Sadedin, Peter Georgeson, Charlotte Anderson, Natalie Thorne, null Melbourne Genomics Health Alliance, Clara Gaff, Susan M White
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genetics in medicine : official journal of the American College of Medical Genetics 18 (11) (2016)