Search Results - "Shao DD"

Duplex-Indel: a Snakemake pipeline for somatic Indel calling in Tn5 transposase-based duplex sequencing data.

Authors: Dong G Hilal N Mallett S et al.

Source: Bioinformatics (Oxford, England) [Bioinformatics] 2026 May 03; Vol. 42 (5).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 9808944 Publication Model: Print Cited Medium: Internet ISSN: 1367-4811 (Electronic) Linking ISSN: 13674803 NLM ISO Abbreviation: Bioinformatics Subsets: MEDLINE

Diverse Genetic Etiologies of Unilateral Polymicrogyria.

Authors: Lai A Neil JE Akula SK et al.

Source: Annals of neurology [Ann Neurol] 2026 May; Vol. 99 (5), pp. 1277-1286. Date of Electronic Publication: 2026 Feb 11.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

Diverse somatic genomic alterations in single neurons in chronic traumatic encephalopathy.

Authors: Dong G Ma CC Mao S et al.

Source: Science (New York, N.Y.) [Science] 2025 Oct 30; Vol. 390 (6772), pp. eadu1351. Date of Electronic Publication: 2025 Oct 30.

Publication Type: Journal Article

Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

High-resolution detection of copy number alterations in single cells with HiScanner.

Authors: Zhao Y Luquette LJ Veit AD et al.

Source: Nature communications [Nat Commun] 2025 Jul 01; Vol. 16 (1), pp. 5477. Date of Electronic Publication: 2025 Jul 01.

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

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.

Authors: French CE Andrews NC Beggs AH et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2024 Dec 02; Vol. 9 (1), pp. 60. Date of Electronic Publication: 2024 Dec 02.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Advances in single-cell DNA sequencing enable insights into human somatic mosaicism.

Authors: Shao DD Kriz AJ Snellings DA et al.

Source: Nature reviews. Genetics [Nat Rev Genet] 2025 Nov; Vol. 26 (11), pp. 761-774. Date of Electronic Publication: 2025 Apr 25.

Publication Type: Journal Article; Review

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 100962779 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1471-0064 (Electronic) Linking ISSN: 14710056 NLM ISO Abbreviation: Nat Rev Genet Subsets: MEDLINE

Spatial transcriptomics reveals human cortical layer and area specification.

Authors: Qian X Coleman K Jiang S et al.

Source: Nature [Nature] 2025 Aug; Vol. 644 (8075), pp. 153-163. Date of Electronic Publication: 2025 May 14.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

The Somatic Mosaicism across Human Tissues Network.

Authors: Coorens THH Oh JW Choi YA et al.

Corporate Authors: Coorens THH Oh JW Choi YA et al.

Source: Nature [Nature] 2025 Jul; Vol. 643 (8070), pp. 47-59. Date of Electronic Publication: 2025 Jul 02.

Publication Type: Journal Article; Review; Research Support, N.I.H., Intramural

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

Cell-type-specific patterns and consequences of somatic mutation in development and aging brain.

Authors: Kriz AJ Mao S Shao DD et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2025 May 31. Date of Electronic Publication: 2025 May 31.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.

Authors: Akula SK Chen AY Neil JE et al.

Corporate Authors: Akula SK Chen AY Neil JE et al.

Source: JAMA neurology [JAMA Neurol] 2023 Sep 01; Vol. 80 (9), pp. 980-988.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print Cited Medium: Internet ISSN: 2168-6157 (Electronic) Linking ISSN: 21686149 NLM ISO Abbreviation: JAMA Neurol Subsets: MEDLINE

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.

Authors: Koh HY Smith L Wiltrout KN et al.

Corporate Authors: Koh HY Smith L Wiltrout KN et al.

Source: JAMA network open [JAMA Netw Open] 2023 Jul 03; Vol. 6 (7), pp. e2324380. Date of Electronic Publication: 2023 Jul 03.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE

A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay.

Authors: Mo A Paz-Ebstein E Yanovsky-Dagan S et al.

Source: Clinical genetics [Clin Genet] 2023 Jul; Vol. 104 (1), pp. 73-80. Date of Electronic Publication: 2023 Apr 02.

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

High-resolution detection of copy number alterations in single cells with HiScanner.

Authors: Zhao Y Luquette LJ Veit AD et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2025 Apr 03. Date of Electronic Publication: 2025 Apr 03.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Perinatal Elimination of Genetically Aberrant Neurons from Human Cerebral Cortex.

Authors: Shao DD Zhao Y Brew J et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2025 Apr 03. Date of Electronic Publication: 2025 Apr 03.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Recurrent patterns of widespread neuronal genomic damage shared by major neurodegenerative disorders.

Authors: Zhou Z Luquette LJ Dong G et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2025 Mar 08. Date of Electronic Publication: 2025 Mar 08.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Spatial Single-cell Analysis Decodes Cortical Layer and Area Specification.

Authors: Qian X Coleman K Jiang S et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2024 Jun 10. Date of Electronic Publication: 2024 Jun 10.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.

Authors: Lemire G Sanchis-Juan A Russell K et al.

Source: American journal of human genetics [Am J Hum Genet] 2024 May 02; Vol. 111 (5), pp. 863-876. Date of Electronic Publication: 2024 Apr 01.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Poly(dA:dT) Suppresses HSV-2 Infection of Human Cervical Epithelial Cells Through RIG-I Activation.

Authors: Shao DD Meng FZ Liu Y et al.

Source: Frontiers in immunology [Front Immunol] 2021 Feb 04; Vol. 11, pp. 598884. Date of Electronic Publication: 2021 Feb 04 (Print Publication: 2020).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

Polymicrogyria is Associated With Pathogenic Variants in PTEN.

Authors: Shao DD Achkar CM Lai A et al.

Corporate Authors: Shao DD Achkar CM Lai A et al.

Source: Annals of neurology [Ann Neurol] 2020 Dec; Vol. 88 (6), pp. 1153-1164. Date of Electronic Publication: 2020 Oct 08.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

The phosphorylation of hCDC14A modulated by ZIPK regulates autophagy of murine pancreatic islet β-TC3 cells upon glucose stimulation.

Authors: Hu H Yin JH Shao DD et al.

Source: European review for medical and pharmacological sciences [Eur Rev Med Pharmacol Sci] 2020 Oct; Vol. 24 (19), pp. 10028-10035.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Verduci Country of Publication: Italy NLM ID: 9717360 Publication Model: Print Cited Medium: Internet ISSN: 2284-0729 (Electronic) Linking ISSN: 11283602 NLM ISO Abbreviation: Eur Rev Med Pharmacol Sci Subsets: MEDLINE