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Plos One|May 27, 2021
Characterization of a L136P mutation in Formin-like 2 (FMNL2) from a patient with chronic inflammatory bowel diseaseRaphael Trefzer, Orly Elpeleg, Tatyana Gabrusskaya, et al.Pediatric Transplantation|October 30, 2013
VPS 45-associated primary infantile myelofibrosis--successful treatment with hematopoietic stem cell transplantationPolina Stepensky, Natalia Simanovsky, Diana Averbuch, et al.Journal of Lipid Research|March 4, 2018
EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humansYasuhiro Horibata, Orly Elpeleg, Ayelet Eran, et al.Orphanet Journal of Rare Diseases|September 22, 2012
Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiencyAndreas Ohlenbusch, Simon Edvardson, Johannes Skorpen, et al.Journal of Inherited Metabolic Disease|May 25, 2011
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7Ann Saada, Shimon Edvardson, Avraham Shaag, et al.Neurogenetics|August 3, 2019
Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic featuresBassam Abu-Libdeh, Motee Ashhab, Maher Shahrour, et al.Annals of Neurology|October 27, 2004
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutationChaya Miller, Ann Saada, Nava Shaul, et al.American Journal of Human Genetics|September 6, 2008
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiencyDaniele Ghezzi, Ann Saada, Pio D'Adamo, et al.American Journal of Human Genetics|March 10, 2009
Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 geneEyal Shteyer, Ann Saada, Avraham Shaag, et al.European Journal of Medical Genetics|April 29, 2022
Orbital nodular fasciitis in child with biallelic germline RBL2 variantJonathan Rips, Bassam Abu-Libdeh, Benjamin Z Koplewitz, et al.Pageof 22