Susan M Hiatt
Overview
Explore the profile of Susan M Hiatt including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
36
Citations
1491
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Gong M, Li J, Qin Z, Machado Bressan Wilke M, Liu Y, Li Q, et al.
Am J Hum Genet
. 2024 Oct;
111(11):2392-2410.
PMID: 39419027
Microtubule affinity-regulating kinase 2 (MARK2) contributes to establishing neuronal polarity and developing dendritic spines. Although large-scale sequencing studies have associated MARK2 variants with autism spectrum disorder (ASD), the clinical features...
2.
Hiatt S, Lawlor J, Handley L, Latner D, Bonnstetter Z, Finnila C, et al.
Genome Res
. 2024 Sep;
34(11):1747-1762.
PMID: 39299904
Variant detection from long-read genome sequencing (lrGS) has proven to be more accurate and comprehensive than variant detection from short-read genome sequencing (srGS). However, the rate at which lrGS can...
3.
Borroto M, Michaud C, Hudon C, Agrawal P, Agre K, Applegate C, et al.
Genes (Basel)
. 2024 Aug;
15(8).
PMID: 39202393
Bi-allelic disruptive variants (nonsense, frameshift, and splicing variants) in have been identified as causative for autosomal recessive intellectual developmental disorder type 65. In contrast, dominant variants, usually disruptive as well,...
4.
Hiatt S, Lawlor J, Handley L, Latner D, Bonnstetter Z, Finnila C, et al.
medRxiv
. 2024 Apr;
PMID: 38585854
Variant detection from long-read genome sequencing (lrGS) has proven to be considerably more accurate and comprehensive than variant detection from short-read genome sequencing (srGS). However, the rate at which lrGS...
5.
Lemke A, Thompson M, Gimpel E, McNamara K, Rich C, Finnila C, et al.
J Pers Med
. 2023 Jul;
13(7).
PMID: 37511639
Background: It is critical to understand the wide-ranging clinical and non-clinical effects of genome sequencing (GS) for parents in the NICU context. We assessed parents' experiences with GS as a...
6.
Pavinato L, Stanic J, Barzasi M, Gurgone A, Chiantia G, Cipriani V, et al.
Genet Med
. 2023 Jul;
25(11):100922.
PMID: 37403762
Purpose: RPH3A encodes a protein involved in the stabilization of GluN2A subunit of N-methyl-D-aspartate (NMDA)-type glutamate receptors at the cell surface, forming a complex essential for synaptic plasticity and cognition....
7.
Felker S, Lawlor J, Hiatt S, Thompson M, Latner D, Finnila C, et al.
Genet Med
. 2023 May;
25(8):100884.
PMID: 37161864
Purpose: Neurodevelopmental disorders (NDDs) often result from rare genetic variation, but genomic testing yield for NDDs remains below 50%, suggesting that clinically relevant variants may be missed by standard analyses....
8.
Felker S, Lawlor J, Hiatt S, Thompson M, Latner D, Finnila C, et al.
bioRxiv
. 2023 Jan;
PMID: 36711854
Purpose: Neurodevelopmental disorders (NDDs) often result from rare genetic variation, but genomic testing yield for NDDs remains around 50%, suggesting some clinically relevant rare variants may be missed by standard...
9.
Hiatt S, Trajkova S, Rossi Sebastiano M, Partridge E, Abidi F, Anderson A, et al.
Am J Hum Genet
. 2022 Dec;
110(2):215-227.
PMID: 36586412
Neurodevelopmental disorders (NDDs) result from highly penetrant variation in hundreds of different genes, some of which have not yet been identified. Using the MatchMaker Exchange, we assembled a cohort of...
10.
Bowling K, Thompson M, Finnila C, Hiatt S, Latner D, Amaral M, et al.
Genet Med
. 2021 Dec;
24(4):851-861.
PMID: 34930662
Purpose: SouthSeq is a translational research study that undertook genome sequencing (GS) for infants with symptoms suggestive of a genetic disorder. Recruitment targeted racial/ethnic minorities and rural, medically underserved areas...