Search Results - "Turinsky AL"

Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures.

Authors: Reko N Torabi-Marashi A Kallurkar P et al.

Source: American journal of human genetics [Am J Hum Genet] 2026 Aug 06; Vol. 113 (8), pp. 1665-1678. Date of Electronic Publication: 2026 Jul 23.

Publication Type: Journal Article

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

Primary infliximab failure in pediatric colonic inflammatory bowel disease: Development of a proteomics predictive model using a prospective Canadian cohort.

Authors: Ricciuto A Turinsky AL Griffiths AM et al.

Corporate Authors: Ricciuto A Turinsky AL Griffiths AM et al.

Source: Inflammatory bowel diseases [Inflamm Bowel Dis] 2026 Jun 01; Vol. 32 (6), pp. 1062-1074.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 9508162 Publication Model: Print Cited Medium: Internet ISSN: 1536-4844 (Electronic) Linking ISSN: 10780998 NLM ISO Abbreviation: Inflamm Bowel Dis Subsets: MEDLINE

One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient Matchmaking.

Authors: Osmond M Price EM Buske OJ et al.

Source: Human mutation [Hum Mutat] 2025 Oct 08; Vol. 2025, pp. 5941599. Date of Electronic Publication: 2025 Oct 08 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Abnormal Lipid Signaling Characterizes Diastolic Dysfunction in Pediatric Cardiomyopathy.

Authors: Turinsky AL Hanafi N Said A et al.

Source: JACC. Basic to translational science [JACC Basic Transl Sci] 2026 Mar; Vol. 11 (3), pp. 101491. Date of Electronic Publication: 2026 Feb 17.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier on behalf of the American College of Cardiology Foundation Country of Publication: United States NLM ID: 101677259 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2452-302X (Electronic) Linking ISSN: 2452302X NLM ISO Abbreviation: JACC Basic Transl Sci Subsets: PubMed not MEDLINE

Early human fetal lung atlas reveals the temporal dynamics of epithelial cell plasticity.

Authors: Quach H Farrell S Wu MJM et al.

Source: Nature communications [Nat Commun] 2024 Jul 13; Vol. 15 (1), pp. 5898. Date of Electronic Publication: 2024 Jul 13.

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

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

Generation of DNA Methylation Signatures and Classification of Variants in Rare Neurodevelopmental Disorders Using EpigenCentral.

Authors: Awamleh Z Goodman S Kallurkar P et al.

Source: Current protocols [Curr Protoc] 2022 Nov; Vol. 2 (11), pp. e597.

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101773894 Publication Model: Print Cited Medium: Internet ISSN: 2691-1299 (Electronic) Linking ISSN: 26911299 NLM ISO Abbreviation: Curr Protoc Subsets: MEDLINE

Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.

Authors: Driver HG Hartley T Price EM et al.

Source: Human mutation [Hum Mutat] 2022 Jun; Vol. 43 (6), pp. 800-811. Date of Electronic Publication: 2022 Mar 09.

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

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

MetaFusion: a high-confidence metacaller for filtering and prioritizing RNA-seq gene fusion candidates.

Authors: Apostolides M Jiang Y Husić M et al.

Source: Bioinformatics (Oxford, England) [Bioinformatics] 2021 Oct 11; Vol. 37 (19), pp. 3144-3151.

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; PubMed not MEDLINE

EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases.

Authors: Turinsky AL Choufani S Lu K et al.

Source: Human mutation [Hum Mutat] 2020 Oct; Vol. 41 (10), pp. 1722-1733. Date of Electronic Publication: 2020 Jul 15.

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

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Don't brush off buccal data heterogeneity.

Authors: Turinsky AL Butcher DT Choufani S et al.

Source: Epigenetics [Epigenetics] 2019 Feb; Vol. 14 (2), pp. 109-117. Date of Electronic Publication: 2019 Mar 01.

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

Journal Info: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101265293 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-2308 (Electronic) Linking ISSN: 15592294 NLM ISO Abbreviation: Epigenetics Subsets: MEDLINE

Impact of assisted reproduction, infertility, sex and paternal factors on the placental DNA methylome.

Authors: Choufani S Turinsky AL Melamed N et al.

Corporate Authors: Choufani S Turinsky AL Melamed N et al.

Source: Human molecular genetics [Hum Mol Genet] 2019 Feb 01; Vol. 28 (3), pp. 372-385.

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

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Evaluation of single-cell RNA-seq clustering algorithms on cancer tumor datasets.

Authors: Mahalanabis A Turinsky AL Husić M et al.

Source: Computational and structural biotechnology journal [Comput Struct Biotechnol J] 2022 Oct 26; Vol. 20, pp. 6375-6387. Date of Electronic Publication: 2022 Oct 26 (Print Publication: 2022).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier B.V. on behalf of Research Network of Computational and Structural Biotechnology Country of Publication: Netherlands NLM ID: 101585369 Publication Model: eCollection Cited Medium: Print ISSN: 2001-0370 (Print) Linking ISSN: 20010370 NLM ISO Abbreviation: Comput Struct Biotechnol J Subsets: PubMed not MEDLINE

NSD1 mutations generate a genome-wide DNA methylation signature.

Authors: Choufani S Cytrynbaum C Chung BH et al.

Source: Nature communications [Nat Commun] 2015 Dec 22; Vol. 6, pp. 10207. Date of Electronic Publication: 2015 Dec 22.

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

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

The missing indels: an estimate of indel variation in a human genome and analysis of factors that impede detection.

Authors: Jiang Y Turinsky AL Brudno M

Source: Nucleic acids research [Nucleic Acids Res] 2015 Sep 03; Vol. 43 (15), pp. 7217-28. Date of Electronic Publication: 2015 Jun 30.

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

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

Anatomy of DNA methylation signatures: Emerging insights and applications.

Authors: Chater-Diehl E Goodman SJ Cytrynbaum C et al.

Source: American journal of human genetics [Am J Hum Genet] 2021 Aug 05; Vol. 108 (8), pp. 1359-1366. Date of Electronic Publication: 2021 Jul 22.

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

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

Navigating the Global Protein-Protein Interaction Landscape Using iRefWeb.

Authors: Turinsky AL Dupont S Botzki A et al.

Source: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2021; Vol. 2199, pp. 191-207.

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

Journal Info: Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029 (Electronic) Linking ISSN: 10643745 NLM ISO Abbreviation: Methods Mol Biol Subsets: MEDLINE

Role of STAT5 and epigenetics in lactation-associated upregulation of multidrug transporter ABCG2 in the mammary gland.

Authors: Wu AM Yang M Dalvi P et al.

Source: American journal of physiology. Endocrinology and metabolism [Am J Physiol Endocrinol Metab] 2014 Oct 01; Vol. 307 (7), pp. E596-610. Date of Electronic Publication: 2014 Aug 12.

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

Journal Info: Publisher: American Physiological Society Country of Publication: United States NLM ID: 100901226 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-1555 (Electronic) Linking ISSN: 01931849 NLM ISO Abbreviation: Am J Physiol Endocrinol Metab Subsets: MEDLINE

Intercellular network structure and regulatory motifs in the human hematopoietic system.

Authors: Qiao W Wang W Laurenti E et al.

Source: Molecular systems biology [Mol Syst Biol] 2014 Jul 15; Vol. 10, pp. 741. Date of Electronic Publication: 2014 Jul 15.

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

Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101235389 Publication Model: Electronic Cited Medium: Internet ISSN: 1744-4292 (Electronic) Linking ISSN: 17444292 NLM ISO Abbreviation: Mol Syst Biol Subsets: MEDLINE

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.

Authors: Grafodatskaya D Chung BH Butcher DT et al.

Source: BMC medical genomics [BMC Med Genomics] 2013 Jan 28; Vol. 6, pp. 1. Date of Electronic Publication: 2013 Jan 28.

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

OrthoNets: simultaneous visual analysis of orthologs and their interaction neighborhoods across different organisms.

Authors: Hao Y Merkoulovitch A Vlasblom J et al.

Source: Bioinformatics (Oxford, England) [Bioinformatics] 2011 Mar 15; Vol. 27 (6), pp. 883-4. Date of Electronic Publication: 2011 Jan 20.

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

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