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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30.
Genet Med. 2022.
PMID: 34906502
Free article.
Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review.
Nelson N, Feurstein S, Niaz A, Truong J, Holien JK, Lucas S, Fairfax K, Dickinson J, Bryan TM.
Nelson N, et al. Among authors: niaz a.
Genet Med. 2023 Mar;25(3):100354. doi: 10.1016/j.gim.2022.11.021. Epub 2022 Dec 7.
Genet Med. 2023.
PMID: 36496180
Free article.
Review.
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Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorder.
Niaz A, Truong J, Manoleras A, Fox LC, Blombery P, Vasireddy RS, Pickett HA, Curtin JA, Barbaro PM, Rodgers J, Roy J, Riley LG, Holien JK, Cohen SB, Bryan TM.
Niaz A, et al.
Blood Adv. 2022 Jun 28;6(12):3779-3791. doi: 10.1182/bloodadvances.2022007029.
Blood Adv. 2022.
PMID: 35477117
Free PMC article.
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Metformin Treatment Attenuates Brain Inflammation and Rescues PACAP/VIP Neuropeptide Alterations in Mice Fed a High-Fat Diet.
Mandwie M, Karunia J, Niaz A, Keay KA, Musumeci G, Rennie C, McGrath K, Al-Badri G, Castorina A.
Mandwie M, et al. Among authors: niaz a.
Int J Mol Sci. 2021 Dec 20;22(24):13660. doi: 10.3390/ijms222413660.
Int J Mol Sci. 2021.
PMID: 34948457
Free PMC article.
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PACAP and VIP Modulate LPS-Induced Microglial Activation and Trigger Distinct Phenotypic Changes in Murine BV2 Microglial Cells.
Karunia J, Niaz A, Mandwie M, Thomas Broome S, Keay KA, Waschek JA, Al-Badri G, Castorina A.
Karunia J, et al. Among authors: niaz a.
Int J Mol Sci. 2021 Oct 11;22(20):10947. doi: 10.3390/ijms222010947.
Int J Mol Sci. 2021.
PMID: 34681607
Free PMC article.
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Robust Dopaminergic Differentiation and Enhanced LPS-Induced Neuroinflammatory Response in Serum-Deprived Human SH-SY5Y Cells: Implication for Parkinson's Disease.
Niaz A, Karunia J, Mandwie M, Keay KA, Musumeci G, Al-Badri G, Castorina A.
Niaz A, et al.
J Mol Neurosci. 2021 Mar;71(3):565-582. doi: 10.1007/s12031-020-01678-6. Epub 2020 Aug 13.
J Mol Neurosci. 2021.
PMID: 32789724
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Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.
Riley LG, Sabui S, Said HM, Niaz A, Girisha KM, Radhakrishnan P, Nampoothiri S, Yesodharan D, Kilo T, Smith J, Wong RSH, Menezes MP, Gupta S, Cooper ST, Balasubramaniam S.
Riley LG, et al. Among authors: niaz a.
Eur J Hum Genet. 2024 May 30. doi: 10.1038/s41431-024-01641-8. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 38816490
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