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SENIOR FACULTY | Genetics and Genomic Sciences
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Dive into the research topics where Ernest Turro is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
Undiagnosed Diseases Network, Apr 2026, In: Nature Genetics. 58, 4, p. 774-781 8 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Human missense variants in F3 impair the initiation of blood coagulation
Ansari, S. A., Brake, M. A., Pathak, N., Flaumenhaft, J. T., Ludington, J. G., Panwar, N., Turro, E. & Schulman, S., 5 Feb 2026, In: Blood. 147, 6, p. 689-701 13 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder (Nature Genetics, (2026), 58, 4, (774-781), 10.1038/s41588-026-02539-5)
Undiagnosed Diseases Network, 2026, (Accepted/In press) In: Nature Genetics.Research output: Contribution to journal › Comment/debate
Open Access -
Understanding how a highly prevalent GRK5 polymorphism affects platelets and enhances thrombotic risk
Yarman, Y., Zhao, X., Ahn, H., Thomson, H., Sarkar, A., Yuan, T., Roberts, M., Wurtzel, J. G. T., Diamond, S. L., Tesmer, J. J. G., French, D. L., Tomaiuolo, M., Turro, E., Astle, W. J., Goldfinger, L. E., McKenzie, S. E., Benovic, J. L., Stalker, T. J., Poncz, M. & Ma, P., 16 Apr 2026, In: Blood. 147, 16, p. 1873-1884 12 p.Research output: Contribution to journal › Article › peer-review
3 Scopus citations -
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings (Nature Genetics, (2024), 56, 8, (1644-1653), 10.1038/s41588-024-01836-1)
Schmidt, A., Danyel, M., Grundmann, K., Brunet, T., Klinkhammer, H., Hsieh, T. C., Engels, H., Peters, S., Knaus, A., Moosa, S., Averdunk, L., Boschann, F., Sczakiel, H. L., Schwartzmann, S., Mensah, M. A., Pantel, J. T., Holtgrewe, M., Bösch, A., Weiß, C. & Weinhold, N. & 152 others, , Jul 2025, In: Nature Genetics. 57, 7, p. 1790-1791 2 p.Research output: Contribution to journal › Comment/debate
Open Access
Press/Media
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Mutations in RNU2-2 gene linked to neurodevelopmental disorders
11/04/26
1 item of Media coverage
Press/Media
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HMN 2026: How Newly discovered recessive neurodevelopmental disorder may be most prevalent ever
10/04/26
1 item of Media coverage
Press/Media
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Scientists Have Found a New Neurodevelopmental Disorder Hidden in Our Genes
8/04/26
2 items of Media coverage
Press/Media
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This hidden gene glitch in 'junk' DNA may finally explain thousands of UK children's mystery brain disorders
8/04/26
1 item of Media coverage
Press/Media
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March: researchers identify the most common recessive | News and features
5/04/26
1 item of Media coverage
Press/Media