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Journal of Medical Genetics|April 9, 2025
LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohortSivan Reytan Miron, Alina Kurolap, Bassam Abu-Libdeh, et al.Medrxiv : the Preprint Server for Health Sciences|February 13, 2023
Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric NeuroferritinopathyJoseph T Shieh, Jesus A Tintos-Hernández, Chaya N Murali, et al.HGG Advances|September 3, 2023
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathyJoseph T Shieh, Jesus A Tintos-Hernandez, Chaya N Murali, 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.EMBO Molecular Medicine|December 19, 2025
Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delaySøren H Hough, Satpal S Jhujh, Samah W Awwad, et al.Genome Biology|September 29, 2023
A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial-temporal regulation of histone arginine methylation in neurodevelopmentXiaolin Lin, Wei Wang, Mingyi Yang, et al.European Journal of Human Genetics : EJHG|May 15, 2023
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individualsHenrike L Sczakiel, Max Zhao, Brigitte Wollert-Wulf, et al.Genome Medicine|May 12, 2026
Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disordersBeatrice Valtorta, Zuzana Polackova, Reza Maroofian, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2026
Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological InvolvementValentina Galassi Deforie, Reza Maroofian, Irem Karagoz, et al.Clinical Genetics|November 10, 2022
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing dataTaila Hartley, Élisabeth Soubry, Meryl Acker, et al.Pageof 3