J Lawrence Merritt 2nd
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Explore the profile of J Lawrence Merritt 2nd including associated specialties, affiliations and a list of published articles.
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Articles
33
Citations
496
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Recent Articles
1.
Marquez J, Cech J, Paschal C, Dingmann B, Scott A, Thies J, et al.
Genet Med Open
. 2024 Nov;
2.
PMID: 39484203
Purpose: Sequencing-based genetic testing often identifies variants of uncertain significance (VUS) or fails to detect pathogenic variants altogether. We evaluated the utility of RNA sequencing (RNA-seq) to clarify VUS or...
2.
Mullegama S, Kiernan K, Torti E, Pavlovsky E, Tilton N, Sekula A, et al.
Am J Hum Genet
. 2024 May;
111(6):1240.
PMID: 38749428
No abstract available.
3.
Mullegama S, Kiernan K, Torti E, Pavlovsky E, Tilton N, Sekula A, et al.
Am J Hum Genet
. 2024 Mar;
111(4):778-790.
PMID: 38531365
Selenophosphate synthetase (SEPHS) plays an essential role in selenium metabolism. Two mammalian SEPHS paralogues, SEPHS1 and SEPHS2, share high sequence identity and structural homology with SEPHS. Here, we report nine...
4.
Olson V, Chang I, Merritt 2nd J, Mingbunjerdsuk D
J Mov Disord
. 2022 May;
15(3):281-283.
PMID: 35614015
No abstract available.
5.
Weerts M, Lanko K, Guzman-Vega F, Jackson A, Ramakrishnan R, Cardona-Londono K, et al.
Genet Med
. 2021 Aug;
23(11):2122-2137.
PMID: 34345025
Purpose: Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and seizures. To date, clinical features have been described for 11 patients...
6.
Lin S, Vona B, Barbalho P, Kaiyrzhanov R, Maroofian R, Petree C, et al.
Genet Med
. 2021 Jun;
23(10):1933-1943.
PMID: 34172899
Purpose: Pathogenic variants in Lysyl-tRNA synthetase 1 (KARS1) have increasingly been recognized as a cause of early-onset complex neurological phenotypes. To advance the timely diagnosis of KARS1-related disorders, we sought...
7.
Diaz G, Schulze A, McNutt M, Leao-Teles E, Merritt 2nd J, Enns G, et al.
J Inherit Metab Dis
. 2020 Dec;
44(4):847-856.
PMID: 33325055
Hyperargininemia in patients with arginase 1 deficiency (ARG1-D) is considered a key driver of disease manifestations, including spasticity, developmental delay, and seizures. Pegzilarginase (AEB1102) is an investigational enzyme therapy which...
8.
Vasquez-Loarte T, Thompson J, Merritt 2nd J
Int J Neonatal Screen
. 2020 Oct;
6(4).
PMID: 33124615
Proximal urea cycle disorders (PUCDs) have adverse outcomes such as intellectual disability and death, which may benefit from newborn screening (NBS) through early detection and prevention with early treatment. Ornithine...
9.
Norris M, Scott A, Sullivan S, Chang I, Lam C, Sun A, et al.
JPEN J Parenter Enteral Nutr
. 2020 Oct;
45(2):230-238.
PMID: 33085788
Background: Patients with severe long-chain fatty acid oxidation disorders (LC-FAODs) experience serious morbidity and mortality despite traditional dietary management including medium-chain triglyceride (MCT)-supplemented, low-fat diets. Triheptanoin is a triglyceride oil...
10.
Merritt 2nd J, MacLeod E, Jurecka A, Hainline B
Rev Endocr Metab Disord
. 2020 Jul;
21(4):479-493.
PMID: 32654032
Fatty acid oxidation disorders (FAOD) are a group of rare, autosomal recessive, metabolic disorders caused by variants of the genes for the enzymes and proteins involved in the transport and...