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Journal of Medical Genetics|April 14, 2012
An SNX10 mutation causes malignant osteopetrosis of infancyMemet Aker, Alex Rouvinski, Saar Hashavia, et al.The Israel Medical Association Journal : IMAJ|November 29, 2020
Immune-Mediated Fetal Complete Atrioventricular Block: Can Dexamethasone Therapy Revert the Process?Zeev Perles, Yuval Ishay, Amiram Nir, et al.American Journal of Human Genetics|March 13, 2012
Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2Ronen Spiegel, Ophry Pines, Asaf Ta-Shma, et al.Journal of Medical Genetics|January 15, 2014
Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutationAsaf Ta-Shma, Nael El-lahham, Simon Edvardson, et al.Plos One|May 8, 2012
A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonismSimon Edvardson, Yuval Cinnamon, Asaf Ta-Shma, et al.American Journal of Human Genetics|March 21, 2017
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal SyndromeAsaf Ta-Shma, Tahir N Khan, Asaf Vivante, et al.Journal of Medical Genetics|November 2, 2016
Congenital valvular defects associated with deleterious mutations in the <i>PLD1</i> geneAsaf Ta-Shma, Kai Zhang, Ekaterina Salimova, et al.Blood|November 15, 2012
CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathyYoram Nevo, Bruria Ben-Zeev, Adi Tabib, et al.Plos One|August 31, 2013
CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic ciliaAmjad Horani, Steven L Brody, Thomas W Ferkol, et al.Clinical Genetics|October 6, 2021
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defectsAlistair T Pagnamenta, Adam Jackson, Rahat Perveen, et al.Pageof 3