Search Results - "Fowler DM"

STARCall integrates image stitching, alignment, and read calling to enable scalable analysis of in situ sequencing data.

Authors: Bradley NJ Pendyala S Partington K et al.

Source: PLoS computational biology [PLoS Comput Biol] 2026 Apr 27; Vol. 22 (4), pp. e1013689. Date of Electronic Publication: 2026 Apr 27 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101238922 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7358 (Electronic) Linking ISSN: 1553734X NLM ISO Abbreviation: PLoS Comput Biol Subsets: MEDLINE

'Truthsets' for clinical validation of large-scale functional assays: Practice recommendations from Cancer Variant Interpretation Group UK (CanVIG-UK).

Authors: Allen S Rowlands CF Garrett A et al.

Corporate Authors: Allen S Rowlands CF Garrett A et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Jul 13. Date of Electronic Publication: 2026 Jul 13.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

An integrated, scaled approach to resolve TSC2 variants of uncertain significance.

Authors: Biar CG Wang ZR Camp ND et al.

Source: Nature communications [Nat Commun] 2026 Jul 09. Date of Electronic Publication: 2026 Jul 09.

Publication Type: Journal Article

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

Image-based, pooled phenotyping reveals multidimensional, disease-specific variant effects.

Authors: Pendyala S Partington K Bradley N et al.

Source: Cell [Cell] 2026 Jun 25; Vol. 189 (13), pp. 4040-4058.e31. Date of Electronic Publication: 2026 May 12.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0413066 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4172 (Electronic) Linking ISSN: 00928674 NLM ISO Abbreviation: Cell Subsets: MEDLINE

Saturation Genome Editing reveals the functional impact of RAD51D and XRCC2 variants.

Authors: Casadei S Snyder MW Woo I et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 Jun 13. Date of Electronic Publication: 2026 Jun 13.

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

Evidence for G6PD variant classification from multiplexed functional assays.

Authors: Geck RC Wheelock MK Powell RL et al.

Source: Genome biology [Genome Biol] 2026 Jun 04. Date of Electronic Publication: 2026 Jun 04.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE

Sceptic: pseudotime analysis for time-series single-cell sequencing and imaging data.

Authors: Li G Kim HJ Pendyala S et al.

Source: Genome biology [Genome Biol] 2025 Jul 17; Vol. 26 (1), pp. 209. Date of Electronic Publication: 2025 Jul 17.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE

The quantitative impact of 3'UTRs on gene expression.

Authors: West JD Smith HJ Vu LT et al.

Source: Nucleic acids research [Nucleic Acids Res] 2025 Jun 20; Vol. 53 (12).

Publication Type: Journal Article

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

Image-based identification and isolation of micronucleated cells to dissect cellular consequences.

Authors: DiPeso L Pendyala S Huang HZ et al.

Source: ELife [Elife] 2025 Jun 02; Vol. 13. Date of Electronic Publication: 2025 Jun 02.

Publication Type: Journal Article

Journal Info: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

Embryo-scale Visual Cell Sorting reveals a conserved transcriptomic signature of nucleolar size linked to proteostasis.

Authors: Kim HJ Pendyala S Lin J et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 May 26. Date of Electronic Publication: 2026 May 26.

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

Phenotype-Specific Recalibration of MAVE Data Enables Repurposing of BAP1 Functional Assays for Küry-Isidor Syndrome.

Authors: Gupta P Balton EV Tejura M et al.

Corporate Authors: Gupta P Balton EV Tejura M et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 May 21. Date of Electronic Publication: 2026 May 21.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Not Forgotten: Patient Experiences with Genetic Variant Reclassifications.

Authors: Gupta P Park MS Kao EY et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 May 17. Date of Electronic Publication: 2026 May 17.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Gene- and domain-aware calibration increases the clinical utility of variant effect predictors.

Authors: Chen Y Fayer S Jain S et al.

Source: Research square [Res Sq] 2026 May 08. Date of Electronic Publication: 2026 May 08.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101768035 Publication Model: Electronic Cited Medium: Internet ISSN: 2693-5015 (Electronic) Linking ISSN: 26935015 NLM ISO Abbreviation: Res Sq Subsets: PubMed not MEDLINE

CountESS: a flexible, graphical pipeline tool for deep mutational scanning analysis.

Authors: Moore N Sargeant CJ Wakefield MJ et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 Apr 30. Date of Electronic Publication: 2026 Apr 30.

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

Gene- and domain-aware calibration increases the clinical utility of variant effect predictors.

Authors: Chen Y Fayer S Jain S et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 Mar 31. Date of Electronic Publication: 2026 Mar 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

Computational variant predictors for pharmacogenomics: from evaluation of single alleles to assessment of adverse drug reactions to antidepressants.

Authors: Hajto J Piechota M Krätschmer I et al.

Source: The pharmacogenomics journal [Pharmacogenomics J] 2026 Mar 09; Vol. 26 (2). Date of Electronic Publication: 2026 Mar 09.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101083949 Publication Model: Electronic Cited Medium: Internet ISSN: 1473-1150 (Electronic) Linking ISSN: 1470269X NLM ISO Abbreviation: Pharmacogenomics J Subsets: MEDLINE

MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays.

Authors: Rubin AF Stone J Bianchi AH et al.

Source: Genome biology [Genome Biol] 2025 Jan 21; Vol. 26 (1), pp. 13. Date of Electronic Publication: 2025 Jan 21.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE

Understanding genetic variants in context.

Authors: Sinnott-Armstrong N Fields S Roth F et al.

Source: ELife [Elife] 2024 Dec 03; Vol. 13. Date of Electronic Publication: 2024 Dec 03.

Publication Type: Journal Article

Journal Info: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

A scalable approach to resolving variants of uncertain significance.

Authors: Tejura M Chen Y McEwen AE et al.

Corporate Authors: Tejura M Chen Y McEwen AE et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 Feb 23. Date of Electronic Publication: 2026 Feb 23.

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

The functional landscape of coding variation in the familial hypercholesterolemia gene LDLR.

Authors: Tabet DR Coté AG Lancaster MC et al.

Source: Science (New York, N.Y.) [Science] 2026 Feb 19; Vol. 391 (6787), pp. eady7186. Date of Electronic Publication: 2026 Feb 19.

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