Search Results - "Greally JM"

Determinants of DNA-sequence-based Diagnostic Yield in the CSER Consortium.

Authors: Mavura Y Crosslin D Ferar K et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Apr 22. Date of Electronic Publication: 2026 Apr 22.

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

Understanding the Role of Functional Noncoding Variation in Human Diseases with Lessons from Immunity.

Authors: Peng XP Greally JM

Source: Annual review of genomics and human genetics [Annu Rev Genomics Hum Genet] 2026 Apr 01. Date of Electronic Publication: 2026 Apr 01.

Publication Type: Journal Article; Review

Journal Info: Publisher: Annual Reviews Country of Publication: United States NLM ID: 100911346 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-293X (Electronic) Linking ISSN: 15278204 NLM ISO Abbreviation: Annu Rev Genomics Hum Genet Subsets: MEDLINE

MYH11 rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overload.

Authors: Zhou Z Hughes K Saif N et al.

Source: PLoS genetics [PLoS Genet] 2025 Jul 14; Vol. 21 (7), pp. e1011394. Date of Electronic Publication: 2025 Jul 14 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Genetic disease risks of under-represented founder populations in New York City.

Authors: Isshiki M Griffen AJ Meissner P et al.

Source: PLoS genetics [PLoS Genet] 2025 Jun 24; Vol. 21 (6), pp. e1011755. Date of Electronic Publication: 2025 Jun 24 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Integrating multi-omic QTLs and predictive models reveals regulatory architectures at immune related GWAS loci in CD4+ T cells.

Authors: Matos MR Ghatan S Bankier S et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Jan 30. Date of Electronic Publication: 2026 Jan 30.

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

Investigating the Impact of Screen-Sharing Visual Aids during Genomic Results Disclosure via Telehealth in Diverse Families in the TeleKidSeq Pilot Study.

Authors: Odgis JA Kelly NR Sebastin M et al.

Source: Public health genomics [Public Health Genomics] 2025; Vol. 28 (1), pp. 85-101. Date of Electronic Publication: 2025 Jan 17.

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

Journal Info: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101474167 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1662-8063 (Electronic) Linking ISSN: 16624246 NLM ISO Abbreviation: Public Health Genomics Subsets: MEDLINE

Egr1 is a sex-dependent regulator of neuronal chromatin, structural plasticity, and behaviour.

Authors: Rocks D Demarchi L Ouldibbat L et al.

Source: Nature communications [Nat Commun] 2025 Dec 13; Vol. 16 (1), pp. 11405. Date of Electronic Publication: 2025 Dec 13.

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

Physician and informal care use explained by the Pediatric Quality of Life Inventory (PedsQL) in children with suspected genetic disorders.

Authors: Berkalieva A Kelly NR Fisher A et al.

Source: Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation [Qual Life Res] 2024 Jul; Vol. 33 (7), pp. 1997-2009. Date of Electronic Publication: 2024 May 14.

Publication Type: Journal Article

Journal Info: Publisher: Springer Netherlands Country of Publication: Netherlands NLM ID: 9210257 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2649 (Electronic) Linking ISSN: 09629343 NLM ISO Abbreviation: Qual Life Res Subsets: MEDLINE

Regulatory landscape enrichment analysis (RLEA): a computational toolkit for non-coding variant enrichment and cell type prioritization.

Authors: Rosean S Sosa EA O'Shea D et al.

Source: BMC bioinformatics [BMC Bioinformatics] 2024 May 07; Vol. 25 (1), pp. 179. Date of Electronic Publication: 2024 May 07.

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100965194 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2105 (Electronic) Linking ISSN: 14712105 NLM ISO Abbreviation: BMC Bioinformatics Subsets: MEDLINE

Individuals with intellectual disability have an increased burden of de novo variants in cis-regulatory elements of glutamatergic neurons.

Authors: Sosa EA O'Shea D Rosean S et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Sep 29. Date of Electronic Publication: 2025 Sep 29.

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

Patient and providers' perspectives on using the GUÍA digital tool to enhance genomic results disclosure.

Authors: Odgis JA Suckiel SA Golfinopoulos L et al.

Source: Genetics in medicine open [Genet Med Open] 2025 Aug 28; Vol. 3, pp. 103451. Date of Electronic Publication: 2025 Aug 28 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE

Identifying the Genetic Ancestry of the Pediatric Obesity-Related Asthma Variant (rs6494395) at Rps27l.

Authors: Yang D Griffen A Isshiki M et al.

Source: Pediatric pulmonology [Pediatr Pulmonol] 2025 Jul; Vol. 60 (7), pp. e71209.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8510590 Publication Model: Print Cited Medium: Internet ISSN: 1099-0496 (Electronic) Linking ISSN: 10990496 NLM ISO Abbreviation: Pediatr Pulmonol Subsets: MEDLINE

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Authors: Nava C Cogne B Santini A et al.

Source: Nature genetics [Nat Genet] 2025 Jun; Vol. 57 (6), pp. 1374-1388. Date of Electronic Publication: 2025 May 16.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.

Authors: Bonini KE Thomas-Wilson A Marathe PN et al.

Source: Clinical genetics [Clin Genet] 2023 Aug; Vol. 104 (2), pp. 210-225. Date of Electronic Publication: 2023 Jun 19.

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

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

Detection of mosaic variants using genome sequencing in a large pediatric cohort.

Authors: Odgis JA Gallagher KM Rehman AU et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Mar; Vol. 191 (3), pp. 699-710. Date of Electronic Publication: 2022 Dec 23.

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

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Using epigenomics to understand cellular responses to environmental influences in diseases.

Authors: Wattacheril JJ Raj S Knowles DA et al.

Source: PLoS genetics [PLoS Genet] 2023 Jan 19; Vol. 19 (1), pp. e1010567. Date of Electronic Publication: 2023 Jan 19 (Print Publication: 2023).

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

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.

Authors: McGee SR Rajamanickam S Adhikari S et al.

Source: Human molecular genetics [Hum Mol Genet] 2023 Jan 13; Vol. 32 (3), pp. 386-401.

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

Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research.

Authors: Ramos MA Bonini KE Scarimbolo L et al.

Source: American journal of human genetics [Am J Hum Genet] 2024 Dec 05; Vol. 111 (12), pp. 2607-2617. Date of Electronic Publication: 2024 Nov 19.

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

Genomic insights into host and parasite interactions during intracellular infection by Toxoplasma gondii.

Authors: Ulahannan N Cutler R Doña-Termine R et al.

Source: PloS one [PLoS One] 2022 Sep 30; Vol. 17 (9), pp. e0275226. Date of Electronic Publication: 2022 Sep 30 (Print Publication: 2022).

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

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Vitamin D Deficiency During Development Permanently Alters Liver Cell Composition and Function.

Authors: Lundy K Greally JF Essilfie-Bondzie G et al.

Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2022 May 12; Vol. 13, pp. 860286. Date of Electronic Publication: 2022 May 12 (Print Publication: 2022).

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

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE