Xiaowu Gai
Overview
Explore the profile of Xiaowu Gai including associated specialties, affiliations and a list of published articles.
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Articles
95
Citations
4173
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Recent Articles
1.
Hahn E, Dharmadhikari A, Markowitz A, Estrine D, Quindipan C, Maggo S, et al.
NPJ Genom Med
. 2025 Feb;
10(1):16.
PMID: 39984494
Exome sequencing is the current standard for diagnosing Mendelian disorders; however, it is generally not considered the first-line test for detecting copy number variants (CNVs). We retrospectively investigated the additional...
2.
Krieger M, Abrahamian M, He K, Atamdede S, Hakimjavadi H, Momcilovic M, et al.
Life Sci Alliance
. 2024 Jul;
7(9.
PMID: 38955468
In addition to mitochondrial DNA, mitochondrial double-stranded RNA (mtdsRNA) is exported from mitochondria. However, specific channels for RNA transport have not been demonstrated. Here, we begin to characterize channel candidates...
3.
Maggo S, North L, Ozuna A, Ostrow D, Grajeda Y, Hakimjavadi H, et al.
Front Pediatr
. 2024 Jun;
12:1401737.
PMID: 38938506
The mitochondrion is a multifunctional organelle that modulates multiple systems critical for homeostasis during pathophysiological stress. Variation in mitochondrial DNA (mtDNA) copy number (mtDNAcn), a key mitochondrial change associated with...
4.
OHalloran K, Hakimjavadi H, Bootwalla M, Ostrow D, Kerawala R, Cotter J, et al.
Mol Cancer Res
. 2024 May;
22(8):721-729.
PMID: 38691518
Little is known about the genomic alterations in chordoma, with the exception of loss of SMARCB1, a core member of the SWI/SNF complex, in poorly differentiated chordomas. A TBXT duplication...
5.
Lee B, Nasanovsky L, Shen L, Maglinte D, Pan Y, Gai X, et al.
J Mol Diagn
. 2024 Feb;
26(5):337-348.
PMID: 38360210
Several in silico annotation-based methods have been developed to prioritize variants in exome sequencing analysis. This study introduced a novel metric Significance Associated with Phenotypes (SAP) score, which generates a...
6.
Shen L, Falk M, Gai X
Curr Protoc
. 2024 Jan;
4(1):e955.
PMID: 38284225
The international Mitochondrial Disease Sequence Data Resource Consortium (MSeqDR) Quick-Mitome (QM) is a web-based platform enabling automated variant interpretation of whole-exome sequencing (WES) datasets for the genetic diagnosis of primary...
7.
Buckley J, Schmidt R, Ostrow D, Maglinte D, Bootwalla M, Ruble D, et al.
J Mol Diagn
. 2023 Nov;
26(2):127-139.
PMID: 38008288
This study reports the development of an exome capture-based RNA-sequencing assay to detect recurring and novel fusions in hematologic, solid, and central nervous system tumors. The assay used Twist Comprehensive...
8.
OHalloran K, Yellapantula V, Christodoulou E, Ostrow D, Bootwalla M, Ji J, et al.
Neurooncol Adv
. 2023 Jul;
5(1):vdad077.
PMID: 37461402
Background: Central nervous system tumors are the most common pediatric solid tumors and the most frequent cause of cancer-related morbidity in childhood. Significant advances in understanding the molecular features of...
9.
McCormick E, Keller K, Taylor J, Coffey A, Shen L, Krotoski D, et al.
Ann Neurol
. 2023 May;
94(4):696-712.
PMID: 37255483
Objective: Primary mitochondrial diseases (PMDs) are heterogeneous disorders caused by inherited mitochondrial dysfunction. Classically defined neuropathologically as subacute necrotizing encephalomyelopathy, Leigh syndrome spectrum (LSS) is the most frequent manifestation of...
10.
Lopera F, Marino C, Chandrahas A, OHare M, Villalba-Moreno N, Aguillon D, et al.
Nat Med
. 2023 May;
29(5):1243-1252.
PMID: 37188781
We characterized the world's second case with ascertained extreme resilience to autosomal dominant Alzheimer's disease (ADAD). Side-by-side comparisons of this male case and the previously reported female case with ADAD...