» Authors » Kimberly Gall

Kimberly Gall

Explore the profile of Kimberly Gall including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 5
Citations 49
Followers 0
Related Specialties
Top 10 Co-Authors
Published In
Affiliations
Soon will be listed here.
Recent Articles
1.
Scocchia A, Kangas-Kontio T, Irving M, Hero M, Saarinen I, Pelttari L, et al.
Orphanet J Rare Dis . 2022 Feb; 17(1):59. PMID: 35177119
No abstract available.
2.
Tuupanen S, Gall K, Sistonen J, Saarinen I, Kampjarvi K, Wells K, et al.
Transl Vis Sci Technol . 2022 Jan; 11(1):6. PMID: 34985506
Purpose: Comprehensive genetic testing for inherited retinal dystrophy (IRD) is challenged by difficult-to-sequence genomic regions, which are often mutational hotspots, such as RPGR ORF15. The purpose of this study was...
3.
Scocchia A, Kangas-Kontio T, Irving M, Hero M, Saarinen I, Pelttari L, et al.
Orphanet J Rare Dis . 2021 Oct; 16(1):412. PMID: 34627339
Background: Skeletal dysplasia is typically diagnosed using a combination of radiographic imaging, clinical examinations, and molecular testing. Identifying a molecular diagnosis for an individual with a skeletal dysplasia can lead...
4.
Gall K, Izzo E, Seppala E, Alakurtti K, Koskinen L, Saarinen I, et al.
PLoS One . 2021 Sep; 16(9):e0255933. PMID: 34469436
Epilepsy is one of the most common childhood-onset neurological conditions with a genetic etiology. Genetic diagnosis provides potential for etiologically-based management and treatment. Existing research has focused on early-onset (<24...
5.
Araia M, Wilson B, Chakraborty P, Gall K, Honeywell C, Milburn J, et al.
Genet Med . 2012 Aug; 14(12):963-70. PMID: 22899093
Purpose: Effective parental education about newborn blood-spot screening may facilitate prompt follow-up, reduce psychosocial harms, and promote trust in screening programs. However, little is known about the aspects of education...