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John M Greally

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Articles 186
Citations 6823
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Recent Articles
1.
Odgis J, Kelly N, Sebastin M, Golfinopoulos L, Scarimbolo L, Insel B, et al.
Public Health Genomics . 2025 Jan; 28(1):85-101. PMID: 39827879
Introduction: Telehealth genetic counseling is comparable to in-person visits in terms of satisfaction, knowledge, and psychological outcomes, but using visual aids can be challenging on telehealth platforms. This pilot study...
2.
Ramos M, Bonini K, Scarimbolo L, Kelly N, Insel B, Suckiel S, et al.
Am J Hum Genet . 2024 Nov; 111(12):2607-2617. PMID: 39566494
Underrepresentation in clinical genomics research limits the generalizability of findings and the benefits of scientific discoveries. We describe the impact of patient-centered, data-driven recruitment and retention strategies in a pediatric...
3.
Isshiki M, Griffen A, Meissner P, Spencer P, Cabana M, Klugman S, et al.
medRxiv . 2024 Oct; PMID: 39399040
The detection of founder pathogenic variants, those observed in high frequency only in a group of individuals with increased inter-relatedness, can help improve delivery of health care for that community....
4.
Thompson D, Wabara Y, Duran S, Reichenbach A, Chen L, Collado K, et al.
bioRxiv . 2024 Aug; PMID: 39211259
Summary: CD4+T cells from obese children with asthma are distinctly programmed for non-allergic immune responses, steroid resistance and inflammasome activation, that underlie the obese asthma phenotype.
5.
Ueda K, Chin S, Sato N, Nishikawa M, Yasuda K, Miyasaka N, et al.
Sci Rep . 2024 Aug; 14(1):19899. PMID: 39191975
Vitamin D deficiency is a common deficiency worldwide, particularly among women of reproductive age. During pregnancy, it increases the risk of immune-related diseases in offspring later in life. However, how...
6.
Zhou Z, Hughes K, Saif N, Kim H, Massett M, Zheng M, et al.
bioRxiv . 2024 Aug; PMID: 39185210
Smooth muscle cell-specific myosin heavy chain, encoded by , is selectively expressed in smooth muscle cells (s). Pathogenic variants in predispose to a number of disorders, including heritable thoracic aortic...
7.
Marathe P, Suckiel S, Bonini K, Kelly N, Scarimbolo L, Insel B, et al.
HGG Adv . 2024 Jun; 5(3):100321. PMID: 38918948
There is increasing evidence of the clinical utility of genetic and genomic testing (GT); however, factors influencing personal utility of GT, especially in diverse, multilingual populations, remain unclear. We explored...
8.
Grebe T, Khushf G, Greally J, Turley P, Foyouzi N, Rabin-Havt S, et al.
Genet Med . 2024 Jun; 26(8):101156. PMID: 38856722
No abstract available.
9.
Berkalieva A, Kelly N, Fisher A, Hohmann S, Abul-Husn N, Greally J, et al.
Qual Life Res . 2024 May; 33(7):1997-2009. PMID: 38743313
Purpose: To examine associations between Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales and PedsQL Infant Scales with formal health care resource utilization (HCRU) and informal caregiver burden....
10.
Rosean S, Sosa E, OShea D, Raj S, Seoighe C, Greally J
BMC Bioinformatics . 2024 May; 25(1):179. PMID: 38714913
Background: As genomic studies continue to implicate non-coding sequences in disease, testing the roles of these variants requires insights into the cell type(s) in which they are likely to be...