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Epilepsia|July 5, 2023
Neurodevelopment of babies born to mothers with epilepsy: A prospective observational cohort studyRebecca L Bromley, Philip Bullen, Ellen Campbell, et al.
European Journal of Human Genetics : EJHG|December 15, 2019
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal diseaseOmamah A Jiman, Rachel L Taylor, Eva Lenassi, et al.
Human Genetics|January 13, 2006
Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitusD J G Mackay, J M D Hahnemann, S E Boonen, et al.
Neurotoxicology and Teratology|September 4, 2023
Neurodevelopmental outcomes in children and adults with Fetal Valproate Spectrum Disorder: A contribution from the ConcePTION projectM Bluett-Duncan, D Astill, R Charbak, et al.
Blood Advances|October 5, 2021
Venetoclax and azacitidine compared with induction chemotherapy for newly diagnosed patients with acute myeloid leukemiaEvan M Cherry, Diana Abbott, Maria Amaya, et al.
Investigative Ophthalmology & Visual Science|January 28, 2017
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early FeatureRachel L Taylor, Mark T Handley, Sarah Waller, et al.
Cancer Cell|November 14, 2018
Inhibition of Amino Acid Metabolism Selectively Targets Human Leukemia Stem CellsCourtney L Jones, Brett M Stevens, Angelo D'Alessandro, et al.
Clinical Genetics|January 23, 2019
Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotypeJessica A Radley, Rory B G O'Sullivan, Sarah E Turton, et al.
Leukemia Research|April 23, 2019
Sequential azacitidine and lenalidomide for patients with relapsed and refractory acute myeloid leukemia: Clinical results and predictive modeling using computational analysisBrett Stevens, Amanda Winters, Jonathan A Gutman, et al.
Brain Communications|August 23, 2021
Identification of <i>LAMA1</i> mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndromeLaura Powell, Eric Olinger, Sarah Wedderburn, et al.
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