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Page 1
Ethylmalonic encephalopathy masquerading as meningococcemia.
Horton A, Hong KM, Pandithan D, Allen M, Killick C, Goergen S, Springer A, Phelan D, Marty M, Halligan R, Lee J, Pitt J, Chong B, Christodoulou J, Lunke S, Stark Z, Fahey M. Horton A, et al. Among authors: pandithan d. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006193. doi: 10.1101/mcs.a006193. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35165146 Free PMC article.
Biallelic IARS2 mutations presenting as sideroblastic anemia.
Barcia G, Pandithan D, Ruzzenente B, Assouline Z, Pennisi A, Ormieres C, Besmond C, Roux CJ, Boddaert N, Desguerre I, Thorburn DR, Bratkovic D, Munnich A, Bonnefont JP, Rötig A, Steffann J. Barcia G, et al. Among authors: pandithan d. Haematologica. 2021 Apr 1;106(4):1220-1225. doi: 10.3324/haematol.2020.270710. Haematologica. 2021. PMID: 33327715 Free PMC article.
BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion.
Pandithan D, Klebe S, McKavanagh G, Rawlings L, Yu S, Nicholl J, Poplawski N. Pandithan D, et al. Case Rep Genet. 2022 Sep 13;2022:5503505. doi: 10.1155/2022/5503505. eCollection 2022. Case Rep Genet. 2022. PMID: 36148247 Free PMC article.