Search Results - "Talkowski ME"

Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.

Authors: Heavner BD Wheeler MM Bengtsson JD et al.

Corporate Authors: Heavner BD Wheeler MM Bengtsson JD et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 May 19. Date of Electronic Publication: 2026 May 19.

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

NeuroDev: etiology and experience of neurodevelopmental disorders in Kenya and South Africa.

Authors: Kipkemoi P O'Heir E Amin M et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 May 06. Date of Electronic Publication: 2026 May 06.

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

Multi-omics profiling reveals MAGEL2-driven defects in human corticogenesis shared across Prader-Willi and Schaaf-Yang syndromes.

Authors: Buecking J Güler BE Eibl M et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 May 04. Date of Electronic Publication: 2026 May 04.

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

Convergent coexpression reveals shared biological mechanisms underlying common and rare variant risk in six neuropsychiatric disorders.

Authors: Abe H Liao C Han L et al.

Source: Molecular psychiatry [Mol Psychiatry] 2026 Apr 07. Date of Electronic Publication: 2026 Apr 07.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5578 (Electronic) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol Psychiatry Subsets: MEDLINE

Deleterious coding variation associated with autism is shared across ancestries.

Authors: Natividad Avila M Jung S Satterstrom FK et al.

Corporate Authors: Natividad Avila M Jung S Satterstrom FK et al.

Source: Nature medicine [Nat Med] 2026 Apr; Vol. 32 (4), pp. 1519-1529. Date of Electronic Publication: 2026 Mar 30.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

Search for a genetic cause of variably protease-sensitive prionopathy.

Authors: Lian Y Kotobelli K Hall S et al.

Source: PLoS pathogens [PLoS Pathog] 2025 Aug 01; Vol. 21 (8), pp. e1013343. Date of Electronic Publication: 2025 Aug 01 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101238921 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7374 (Electronic) Linking ISSN: 15537366 NLM ISO Abbreviation: PLoS Pathog Subsets: MEDLINE

Loss of CFHR5 function reduces the risk for age-related macular degeneration.

Authors: Reeve MP Loomis S Nissilä E et al.

Corporate Authors: Reeve MP Loomis S Nissilä E et al.

Source: Nature communications [Nat Commun] 2025 Jul 01; Vol. 16 (1), pp. 5766. 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

Integrating 730,947 exome sequences with clinical literature improves gene discovery.

Authors: Guez J Goodrich JK Moldovan MA et al.

Corporate Authors: Guez J Goodrich JK Moldovan MA et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Mar 25. Date of Electronic Publication: 2026 Mar 25.

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

2025 ASHG Scientific Achievement Award: Decoding the genome-From structure to development to the promise of precision medicine.

Authors: Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital and Mass General Brigham, Boston, MA, USA; Department of Neurology, Harvard Medical School and MGB Neuroscience Institute, Boston, MA, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Boston, MA, USA. Electronic address: mtalkowski@mgh.harvard.edu.

Source: American journal of human genetics [Am J Hum Genet] 2026 Mar 05; Vol. 113 (3), pp. 416-423.

Publication Type: Journal Article

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

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Authors: Boone PM Erdin S Mohamed A et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Feb 28. Date of Electronic Publication: 2026 Feb 28.

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

Transcriptomic profiling uncovers mis-splicing and gene fusions in amyotrophic lateral sclerosis.

Authors: Xu H Petrozziello T Boudi A et al.

Corporate Authors: Xu H Petrozziello T Boudi A et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Feb 06. Date of Electronic Publication: 2026 Feb 06.

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

MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.

Authors: Mejia Maza A Hincher M Correia K et al.

Source: American journal of human genetics [Am J Hum Genet] 2026 Jan 08; Vol. 113 (1), pp. 83-99. Date of Electronic Publication: 2025 Dec 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

Rare germline structural variants increase risk for pediatric solid tumors.

Authors: Gillani R Collins RL Crowdis J et al.

Source: Science (New York, N.Y.) [Science] 2025 Jan 03; Vol. 387 (6729), pp. eadq0071. Date of Electronic Publication: 2025 Jan 03.

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

Common and rare variant genetic contributions in African Americans with autism.

Authors: Cirnigliaro M Lowe JK Flynn-Carroll AO et al.

Corporate Authors: Cirnigliaro M Lowe JK Flynn-Carroll AO et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Nov 19. Date of Electronic Publication: 2025 Nov 19.

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

Large-scale discovery of neural enhancers for cis-regulation therapies.

Authors: McDiarmid TA Page NF Chardon FM et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2025 Nov 05. Date of Electronic Publication: 2025 Nov 05.

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

GREGoR: accelerating genomics for rare diseases.

Authors: Dawood M Heavner B Wheeler MM et al.

Corporate Authors: Dawood M Heavner B Wheeler MM et al.

Source: Nature [Nature] 2025 Nov; Vol. 647 (8089), pp. 331-342. Date of Electronic Publication: 2025 Nov 12.

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

Transcriptional and epigenetic targets of MEF2C in human microglia contribute to cellular functions related to autism risk and age-related disease.

Authors: Nguyen C Broersma EH Warden AS et al.

Source: Nature immunology [Nat Immunol] 2025 Nov; Vol. 26 (11), pp. 1989-2003. Date of Electronic Publication: 2025 Oct 22.

Publication Type: Journal Article

Journal Info: Publisher: Nature America Inc Country of Publication: United States NLM ID: 100941354 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-2916 (Electronic) Linking ISSN: 15292908 NLM ISO Abbreviation: Nat Immunol Subsets: MEDLINE

CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling.

Authors: Moyses-Oliveira M Liu Y Erdin S et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2025 Oct 27. Date of Electronic Publication: 2025 Oct 27.

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

Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism.

Authors: Yadav R Vaine CA Domingo A et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Oct 13. Date of Electronic Publication: 2025 Oct 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

Population-scale Long-read Sequencing in the All of Us Research Program.

Authors: Garimella KV Li Q Wertz J et al.

Corporate Authors: Garimella KV Li Q Wertz J et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Oct 05. Date of Electronic Publication: 2025 Oct 05.

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