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Movement Disorders : Official Journal of the Movement Disorder Society|March 18, 2026
The Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 PatientsKaterina Bernardi, Anna Zhou, Kathryn Yang, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorderReza Maroofian, Mina Zamani, Rauan Kaiyrzhanov, et al.Nature Communications|January 20, 2025
Construction and iterative redesign of synXVI a 903 kb synthetic Saccharomyces cerevisiae chromosomeHugh D Goold, Heinrich Kroukamp, Paige E Erpf, et al.Journal of Inherited Metabolic Disease|September 15, 2023
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular traffickingRuizhi Duan, Dana Marafi, Zhi-Jie Xia, et al.American Journal of Human Genetics|March 21, 2020
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic DecompensationDongxue Mao, Chloe M Reuter, Maura R Z Ruzhnikov, et al.American Journal of Human Genetics|August 26, 2025
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizuresSankalita Ray Das, Rosie Sullivan, Mischa S G Ruegg, et al.European Journal of Human Genetics : EJHG|September 22, 2025
Further phenotypical delineation of DLG3-related neurodevelopmental disordersMarlène Malbos, Thierry Gautier, Amelle Shillington, et al.Journal of Cutaneous Pathology|September 18, 2021
Appropriate use criteria for ancillary diagnostic testing in dermatopathology: New recommendations for 11 tests and 220 clinical scenarios from the American Society of Dermatopathology Appropriate Use Criteria Committee, Maxwell A Fung, Claudia I Vidal, et al.The Lancet. Gastroenterology & Hepatology|June 15, 2025
Pre-emptive TIPS for gastric variceal bleeding in patients with cirrhosis (GAVAPROSEC): an open-label randomised clinical trialJean-Paul Cervoni, Delphine Weil, Maxime Desmarets, et al.American Journal of Human Genetics|October 29, 2024
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemiaScott Barish, Sheng-Jia Lin, Reza Maroofian, et al.Pageof 57