Ganeshwaran H Mochida
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Explore the profile of Ganeshwaran H Mochida including associated specialties, affiliations and a list of published articles.
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39
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1353
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Recent Articles
1.
Kozak I, Mochida G, Lin D, Ali S, Bosley T
Eye Brain
. 2024 Oct;
16:55-63.
PMID: 39464599
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC) is a rare syndrome caused by biallelic mutations in the JAM3 gene with significant intrafamilial variability in clinical presentation...
2.
Akula S, Chen A, Neil J, Shao D, Mo A, Hylton N, et al.
JAMA Neurol
. 2023 Jul;
80(9):980-988.
PMID: 37486637
Importance: Polymicrogyria is the most commonly diagnosed cortical malformation and is associated with neurodevelopmental sequelae including epilepsy, motor abnormalities, and cognitive deficits. Polymicrogyria frequently co-occurs with other brain malformations or...
3.
Fujimura K, Guise A, Nakayama T, Schlaffner C, Meziani A, Kumar M, et al.
iScience
. 2023 Jun;
26(7):106909.
PMID: 37332674
Characterizing perturbation of molecular pathways in congenital Zika virus (ZIKV) infection is critical for improved therapeutic approaches. Leveraging integrative systems biology, proteomics, and RNA-seq, we analyzed embryonic brain tissues from...
4.
Tepe B, Macke E, Niceta M, Hubshman M, Kanca O, Schultz-Rogers L, et al.
Am J Hum Genet
. 2023 Apr;
110(5):774-789.
PMID: 37054711
The Integrator complex is a multi-subunit protein complex that regulates the processing of nascent RNAs transcribed by RNA polymerase II (RNAPII), including small nuclear RNAs, enhancer RNAs, telomeric RNAs, viral...
5.
Haag N, Tan E, Begemann M, Buschmann L, Kraft F, Holschbach P, et al.
Eur J Hum Genet
. 2021 Aug;
29(11):1663-1668.
PMID: 34413497
Heterozygous missense variants in the WD repeat domain 11 (WDR11) gene are associated with hypogonadotropic hypogonadism in humans. In contrast, knockout of both alleles of Wdr11 in mice results in...
6.
7.
Coulter M, Musaev D, DeGennaro E, Zhang X, Henke K, James K, et al.
Genet Med
. 2020 Feb;
22(6):1040-1050.
PMID: 32103185
Purpose: The exocyst complex is a conserved protein complex that mediates fusion of intracellular vesicles to the plasma membrane and is implicated in processes including cell polarity, cell migration, ciliogenesis,...
8.
Daly T, Roberts A, Yang E, Mochida G, Bodamer O
Am J Med Genet A
. 2019 Dec;
182(3):441-445.
PMID: 31846209
Kabuki syndrome is a rare, multi-systemic disorder of chromatin regulation due to mutations in either KMT2D or KDM6A that encode a H3K4 methyltransferase and an H3K27 demethylase, respectively. The associated...
9.
Kikuti M, Cardoso C, Prates A, Paploski I, Kitron U, Reis M, et al.
Euro Surveill
. 2018 Nov;
23(45).
PMID: 30424827
BackgroundNorth-eastern Brazil was the region most affected by the outbreak of congenital Zika syndrome that followed the 2015 Zika virus (ZIKV) epidemics, with thousands of suspected microcephaly cases reported to...
10.
Khalil R, Kenny C, Hill R, Mochida G, Nasir R, Partlow J, et al.
Am J Med Genet B Neuropsychiatr Genet
. 2018 Nov;
177(8):736-745.
PMID: 30421579
Protein homeostasis is tightly regulated by the ubiquitin proteasome pathway. Disruption of this pathway gives rise to a host of neurological disorders. Through whole exome sequencing (WES) in families with...