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Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.

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Silva DB. et al, (2024), Am J Hum Genet

A comprehensive AI model development framework for consistent Gleason grading.

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Huo X. et al, (2024), Commun Med (Lond), 4

Examining Sex Differences in Autism Heritability.

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Sandin S. et al, (2024), JAMA Psychiatry

The Human Phenotype Ontology in 2024: phenotypes around the world.

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Gargano MA. et al, (2023), Nucleic Acids Res

Neuropsychiatric biomarker discovery: go big or go home

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Ljungdahl A. and Sanders SJ., (2023), Trends in Molecular Medicine

KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.

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Cioclu MC. et al, (2023), Ann Neurol

Characterization of De Novo Promoter Variants in Autism Spectrum Disorder with Massively Parallel Reporter Assays

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Koesterich J. et al, (2023), International Journal of Molecular Sciences, 24, 3509 - 3509

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