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Publications

A Cre-dependent massively parallel reporter assay allows for cell-type specific assessment of the functional effects of non-coding elements in vivo.

Lagunas T. et al, (2023), Commun Biol, 6

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

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

AlphaMissense is better correlated with functional assays of missense impact than earlier prediction algorithms.

Ljungdahl A. et al, (2023)

Astrocytic β-catenin signaling via TCF7L2 regulates synapse development and social behavior.

Szewczyk LM. et al, (2023), Mol Psychiatry

Neuropsychiatric biomarker discovery: go big or go home

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

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.

Lowther C. et al, (2023), Am J Hum Genet

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

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

Multiplex, single-cell CRISPRa screening for cell type specific regulatory elements

Chardon FM. et al, (2023)

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

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

In Search of Biomarkers to Guide Interventions in Autism Spectrum Disorder: A Systematic Review

Parellada M. et al, (2023), The American journal of psychiatry, 180, 23 - 40

Detection of subtle white matter lesions in MRI through texture feature extraction and boundary delineation using an embedded clustering strategy

Ong K. et al, (2022), Scientific Reports, 12

Spatiotemporal and genetic regulation of A-to-I editing throughout human brain development

Cuddleston WH. et al, (2022), Cell Reports, 41

Prenatal Somatic Cell Gene Therapies: Charting a Path Toward Clinical Applications (Proceedings of the CERSI-FDA Meeting)

Herzeg A. et al, (2022), Journal of Clinical Pharmacology, 62, S36 - S52

The female protective effect against autism spectrum disorder

Wigdor EM. et al, (2022), Cell Genomics, 2

Assessing the utility of electronic measures as a proxy for cognitive ability

Levy T. et al, (2022), Autism Research, 15, 988 - 995

The female protective effect against autism spectrum disorder

Wigdor EM. et al, (2022), Cell Genomics, 2, 100134 - 100134

High-throughput characterization of the role of non-B DNA motifs on promoter function

Georgakopoulos-Soares I. et al, (2022), Cell Genomics, 2

Enhancing Clinical Information Display to Improve Patient Encounters: Human-Centered Design and Evaluation of the Parkinson Disease-BRIDGE Platform

Brown EG. et al, (2022), JMIR Human Factors, 9

Mapping genomic loci implicates genes and synaptic biology in schizophrenia.

Trubetskoy V. et al, (2022), Nature, 604, 502 - 508

A biomedical open knowledge network harnesses the power of AI to understand deep human biology

Baranzini SE. et al, (2022), AI Magazine, 43, 46 - 58

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