Search Results - "Tiao G"

Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes.

Authors: Chen S Francioli LC Goodrich JK et al.

Corporate Authors: Chen S Francioli LC Goodrich JK et al.

Source: Nature [Nature] 2024 Feb; Vol. 626 (7997), pp. E1.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE; PubMed not MEDLINE

Fusion DNAJB1::PRKACA in Non-Fibrolamellar Cancer Cases. Reply to Arif et al. Global Re-Analysis Confirms Absence of the DNAJB1::PRKACA Fusion in Hepatoblastoma. Comment on "Fleifil et al. DNAJB1-PKAc Kinase Is Expressed in Young Patients with Pediatric Liver Cancers and Enhances Carcinogenic Pathways. Cancers 2025, 17 , 83"

Authors: Fleifil, Yasmeen Gulati, Ruhi Jennings, Katherine et al.

Source: Cancers. Mar2026, Vol. 18 Issue 6, p918. 4p.

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.

Authors: Donkervoort, Sandra Mohassel, Payam O'Leary, Melanie et al.

Source: Annals of Clinical & Translational Neurology. Mar2024, Vol. 11 Issue 3, p629-640. 12p.

Author Correction: Analyses of non-coding somatic drivers in 2,658 cancer whole genomes.

Authors: Rheinbay E Nielsen MM Abascal F et al.

Corporate Authors: Rheinbay E Nielsen MM Abascal F et al.

Source: Nature [Nature] 2023 Feb; Vol. 614 (7948), pp. E40.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE; PubMed not MEDLINE

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

Authors: El Chehadeh, Salima Heide, Solveig Quélin, Chloé et al.

Source: Genome Medicine. 10/3/2025, Vol. 17 Issue 1, p1-28. 28p.

VUStruct: A compute pipeline for high throughput and personalized structural biology.

Authors: Moth, Christopher W. Sheehan, Jonathan H. Al Mamun, Abdullah et al.

Source: PLoS Computational Biology. 5/4/2026, Vol. 22 Issue 5, p1-15. 15p.

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Zimin patterns in genomes.

Authors: Chantzi, Nikol Mouratidis, Ioannis Georgakopoulos-Soares, Ilias

Source: PLoS Computational Biology. 2/9/2026, Vol. 22 Issue 2, p1-23. 23p.

Rare heterozygous missense variants in VSX2 are associated with retinal detachment.

Authors: Brock, Daniel C. Dhindsa, Justin S. Chen, Yifan et al.

Source: PLoS Genetics. 2/3/2026, Vol. 22 Issue 2, p1-25. 25p.

Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans.

Authors: Karczewski KJ Francioli LC Tiao G et al.

Corporate Authors: Karczewski KJ Francioli LC Tiao G et al.

Source: Nature [Nature] 2021 Feb; Vol. 590 (7846), pp. E53.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE; PubMed not MEDLINE

Author Correction: A structural variation reference for medical and population genetics.

Authors: Collins RL Brand H Karczewski KJ et al.

Corporate Authors: Collins RL Brand H Karczewski KJ et al.

Source: Nature [Nature] 2021 Feb; Vol. 590 (7846), pp. E55.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE; PubMed not MEDLINE

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Congenital Hepatoblastoma in a Female Neonate: A Case Report.

Authors: Alnahar, Suhaib Alaeed, Mohammad Shhab Ebraheem, Rasha et al.

Source: Case Reports in Oncology. Mar2026, Vol. 19 Issue 1, p631-638. 8p. 4 Illustrations.

Global Re-Analysis Confirms Absence of the DNAJB1 :: PRKACA Fusion in Hepatoblastoma. Comment on Fleifil et al. DNAJB1-PKAc Kinase Is Expressed in Young Patients with Pediatric Liver Cancers and Enhances Carcinogenic Pathways. Cancers 2025, 17 , 83.

Authors: Arif, Waqar Simon, Sanford M. O'Neill, Allison F. et al.

Source: Cancers. Mar2026, Vol. 18 Issue 5, p877. 5p.

Intraoperative Discovery of Type II Choledochal Cyst, Partial Annular Pancreas, and Duodenal Stenosis in a 45‐Day‐Old Term Born Female Infant.

Authors: Gouvea, Andrea de Abreu e Stellon, Michael Chapman, Teresa et al.

Source: Case Reports in Pediatrics. 6/19/2026, Vol. 2026, p1-5. 5p.

Robust discovery of mutational signatures using power posteriors.

Authors: Xue, Catherine Miller, Jeffrey W. Carter, Scott L. et al.

Source: PLoS Computational Biology. 6/11/2026, Vol. 22 Issue 6, p1-19. 19p.

Sequence context and methylation interact to shape germline mutation rate variation at CpG sites.

Authors: Chandra, Sheel Gao, Ziyue

Source: PLoS Genetics. 6/1/2026, Vol. 22 Issue 6, p1-22. 22p.

Improved allele frequencies in gnomAD through local ancestry inference.

Authors: Kore P Wilson MW Tiao G et al.

Corporate Authors: Kore P Wilson MW Tiao G et al.

Source: Nature communications [Nat Commun] 2025 Oct 06; Vol. 16 (1), pp. 8734. Date of Electronic Publication: 2025 Oct 06.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Establishment of Patient-Derived Organoids from Hepatocellular Carcinoma: Preliminary Data on Yield, Histopathological Concordance, and Methodological Challenges.

Authors: Lo Re, Oriana Corti, Christian Cerrito, Lucia et al.

Source: Cells (2073-4409). Jan2026, Vol. 15 Issue 2, p125. 15p.

Local mitochondrial physiology defined by mtDNA quality guides purifying selection.

Authors: Thoma, Felix Hagen, Johannes Rathberger, Romina et al.

Source: PLoS Genetics. 1/9/2026, Vol. 22 Issue 1, p1-23. 23p.