Calame, Daniel G.

TLR7 gain-of-function genetic variation causes human lupus

Brown, G. J., Cañete, P. F., Wang, H., Medhavy, A., Bones, J., Roco, J. A., He, Y., Qin, Y., Cappello, J., Ellyard, J. I., et al. (2022) · Nature

Systemic Lupus Erythematosus ResearchImmune Response and Inflammation

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PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response

Deb, W., Rosenfelt, C., Vignard, V., Papendorf, J. J., Möller, S., Wendlandt, M., Studencka-Turski, M., Cogné, B., Besnard, T., Ruffier, L., et al. (2024) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

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Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

Sczakiel, H. L., Zhao, M., Wollert-Wulf, B., Danyel, M., Ehmke, N., Stoltenburg, C., Damseh, N., Al-Ashhab, M., Balci, T. B., Osmond, M., et al. (2023) · European Journal of Human Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

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Diagnostic yield of genome sequencing in children with progressive movement disorders

Schierbaum, L., Gonzalez Saez-Diez, E., Tam, A., Rong, J., Zubair, U., Bernardi, K., Yang, K., Quiroz, V., Zaman, Z., Saffari, A., et al. (2026) · Brain

Genomics and Rare DiseasesHereditary Neurological Disorders

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