Brian J Shayota
Overview
Explore the profile of Brian J Shayota 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
26
Citations
201
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Jenkins S, Palmquist R, Shayota B, Solorzano C, Bonkowsky J, Estabrooks P, et al.
Pediatr Res
. 2025 Jan;
PMID: 39821137
The integration of genomic medicine into pediatric clinical practice is a critical need that remains largely unmet, especially in socioeconomically challenged and rural areas where healthcare disparities are most pronounced....
2.
Aceves-Ewing N, Lanza D, Marcogliese P, Lu D, Hsu C, Gonzalez M, et al.
medRxiv
. 2024 Dec;
PMID: 39677486
Heterozygous pathogenic variants in are associated with oligodontia-colorectal cancer syndrome (ODCRCS), a disorder characterized by oligodontia, colorectal cancer, and in some cases, sparse hair and eyebrows. We have identified four...
3.
Wen T, Shayota B, Wallace L, Mani C, Davis N, Zhao J
Case Rep Genet
. 2024 Dec;
2024:1912620.
PMID: 39635340
Heterozygous microdeletions at 13q12.3 are associated with a rare genetic disorder, 13q12.3 microdeletion syndrome, characterized by intellectual disability, microcephaly, development delay, facial dysmorphisms, atopy, and obesity. Reported 13q12.3 microdeletions vary...
4.
Shayota B
Neurotherapeutics
. 2024 Jan;
21(1):e00325.
PMID: 38295557
Mitochondrial diseases encompass a heterogeneous group of disorders with a wide range of clinical manifestations, most classically resulting in neurological, muscular, and metabolic abnormalities, but having the potential to affect...
5.
Shayota B
Pediatr Clin North Am
. 2023 Sep;
70(5):929-936.
PMID: 37704351
As the availability of advanced molecular testing like whole exome and genome sequencing expands, it comes with the added complication of interpreting inconclusive results, including determining the relevance of variants...
6.
Reynolds H, Wen T, Farrell A, Mao R, Moore B, Boyden S, et al.
Cold Spring Harb Mol Case Stud
. 2022 Nov;
8(7).
PMID: 36379720
Congenital myasthenic syndrome (CMS) is a group of 32 disorders involving genetic dysfunction at the neuromuscular junction resulting in skeletal muscle weakness that worsens with physical activity. Precise diagnosis and...
7.
McGee S, Rajamanickam S, Adhikari S, Falayi O, Wilson T, Shayota B, et al.
Hum Mol Genet
. 2022 Aug;
32(3):386-401.
PMID: 35981081
De novo deleterious and heritable biallelic mutations in the DNA binding domain (DBD) of the transcription factor deformed epidermal autoregulatory factor 1 (DEAF1) result in a phenotypic spectrum of disorders...
8.
Aldag E, Fan E, Marshall I, Christensen R, Shayota B, Meznarich J
J Pediatr Hematol Oncol
. 2022 Apr;
44(7):409-411.
PMID: 35398868
Hereditary fructose intolerance is a rare autosomal recessive metabolic disorder characterized by liver failure, renal tubulopathy, growth retardation, and occasionally death upon exposure to fructose. We present a 2-month-old male...
9.
Nicholas T, Al-Sweel N, Farrell A, Mao R, Bayrak-Toydemir P, Miller C, et al.
Mol Genet Genomic Med
. 2022 Feb;
10(4):e1888.
PMID: 35119225
Background: Genetic disorders contribute to significant morbidity and mortality in critically ill newborns. Despite advances in genome sequencing technologies, a majority of neonatal cases remain unsolved. Complex structural variants (SVs)...
10.
Zhang C, Jolly A, Shayota B, Mazzeu J, Du H, Dawood M, et al.
HGG Adv
. 2022 Jan;
3(1):100074.
PMID: 35047859
Robinow syndrome (RS) is a genetically heterogeneous disorder with six genes that converge on the WNT/planar cell polarity (PCP) signaling pathway implicated (, , , , , and ). RS...