Dinusha Pandithan

Ethylmalonic encephalopathy masquerading as meningococcemia

S. Goergen, J. Christodoulou, D. Phelan, 2022, Cold Spring Harbor molecular case studies.

Biallelic IARS2 mutations presenting as sideroblastic anemia

A. Munnich, N. Boddaert, A. Rötig, 2020, Haematologica.

Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review

M. Delatycki, J. Yaplito-Lee, J. Pitt, 2023, JIMD reports.

3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis

K. Bhattacharya, A. Boneh, D. Coman, 2022, JIMD reports.

BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion

S. Klebe, N. Poplawski, Sui Yu, 2022, Case reports in genetics.