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Nature Communications|November 3, 2020
Full genome viral sequences inform patterns of SARS-CoV-2 spread into and within IsraelDanielle Miller, Michael A Martin, Noam Harel, et al.American Journal of Human Genetics|May 26, 2009
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial diseaseAnn Saada, Rutger O Vogel, Saskia J Hoefs, et al.Human Genomics|February 28, 2025
Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotypeAdel Shalata, Ann Saada, Mohammed Mahroum, et al.Journal of Medical Genetics|June 5, 2015
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelinationNadirah Damseh, Alexandre Simonin, Chaim Jalas, et al.Journal of Inherited Metabolic Disease|September 25, 2024
Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newbornsRachel Rock, Oded Rock, Suha Daas, et al.Plos Genetics|August 28, 2018
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertilityAsaf Ta-Shma, Rim Hjeij, Zeev Perles, et al.Journal of Inherited Metabolic Disease|November 15, 2020
The role of orotic acid measurement in routine newborn screening for urea cycle disordersOrna Staretz-Chacham, Suha Daas, Igor Ulanovsky, et al.Pageof 10