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Science Translational Medicine|October 22, 2020
Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3Mercedes Prudencio, Hector Garcia-Moreno, Karen R Jansen-West, et al.Genome Medicine|March 2, 2019
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.American Journal of Human Genetics|April 17, 2018
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar DysgenesisHeather E Olson, Nolwenn Jean-Marçais, Edward Yang, et al.Biological Psychiatry|August 28, 2022
Brain Structure in Acutely Underweight and Partially Weight-Restored Individuals With Anorexia Nervosa: A Coordinated Analysis by the ENIGMA Eating Disorders Working GroupEsther Walton, Fabio Bernardoni, Victoria-Luise Batury, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2020
Impact of integrated translational research on clinical exome sequencingEric W Klee, Margot A Cousin, Filippo Pinto E Vairo, et al.Journal of Translational Medicine|June 23, 2023
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)Filippo Pinto E Vairo, Jennifer L Kemppainen, Carolyn R Rohrer Vitek, et al.Neuron|August 5, 2021
The continued need for animals to advance brain researchJudith R Homberg, Roger A H Adan, Natalia Alenina, et al.Human Brain Mapping|July 1, 2024
Brain-age prediction: Systematic evaluation of site effects, and sample age range and sizeYuetong Yu, Hao-Qi Cui, Shalaila S Haas, et al.Neurology. Genetics|November 18, 2021
<i>PURA-</i>Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic SpectrumKatrine M Johannesen, Elena Gardella, Cathrine E Gjerulfsen, et al.Current Biology : CB|September 22, 2020
How the COVID-19 pandemic highlights the necessity of animal researchLisa Genzel, Roger Adan, Anton Berns, et al.Pageof 97