Quaid K, Xing X, Chen Y, Miao Y, Neilson A, Selvamani V
Nat Commun. 2025; 16(1):1750.
PMID: 39966349
PMC: 11836351.
DOI: 10.1038/s41467-025-56569-4.
Oh J, Beer M
Nat Commun. 2024; 15(1):6464.
PMID: 39085231
PMC: 11291912.
DOI: 10.1038/s41467-024-50708-z.
Zhang B, Yang J, Song A, Feng W, Guo Z
Biochem Genet. 2024; .
PMID: 38844639
DOI: 10.1007/s10528-024-10852-z.
Ahmed F, Samantasinghar A, Ali W, Choi K
Mol Divers. 2024; 28(6):3879-3895.
PMID: 38227161
DOI: 10.1007/s11030-023-10784-7.
Wragg J, White P, Hadzhiev Y, Wanigasooriya K, Stodolna A, Tee L
Nat Struct Mol Biol. 2023; 30(12):1970-1984.
PMID: 37996663
PMC: 10716046.
DOI: 10.1038/s41594-023-01156-8.
Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report.
Bitarafan F, Khodaeian M, Garrousi F, Khalesi R, Ghazi Nader D, Karimi B
BMC Endocr Disord. 2023; 23(1):155.
PMID: 37474955
PMC: 10357607.
DOI: 10.1186/s12902-023-01388-1.
eIF2Bδ blocks the integrated stress response and maintains eIF2B activity and cancer metastasis by overexpression in breast cancer stem cells.
Gupta M, Walters B, Katsara O, Granados Blanco K, Geter P, Schneider R
Proc Natl Acad Sci U S A. 2023; 120(15):e2207898120.
PMID: 37014850
PMC: 10104532.
DOI: 10.1073/pnas.2207898120.
Population and mutational assessment of novel repeats in 13RM Y-STRs in unrelated males born in Gilgit, Pakistan.
Ullah M, Ali A, Majeed A, Ijaz A, Albastaki A, Khan M
Saudi J Biol Sci. 2022; 29(5):3177-3183.
PMID: 35844379
PMC: 9280172.
DOI: 10.1016/j.sjbs.2022.01.055.
RNA editing regulates lncRNA splicing in human early embryo development.
Qiu J, Ma X, Zeng F, Yan J
PLoS Comput Biol. 2021; 17(12):e1009630.
PMID: 34851956
PMC: 8668112.
DOI: 10.1371/journal.pcbi.1009630.
Kabuki Syndrome: Identification of Two Novel Variants in and .
Khodaeian M, Jafarinia E, Bitarafan F, Shafeii S, Almadani N, Daneshmand M
Mol Syndromol. 2021; 12(2):118-126.
PMID: 34012382
PMC: 8114050.
DOI: 10.1159/000513199.
The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.
Aguib Y, Allouba M, Afify A, Halawa S, El-Khatib M, Sous M
NPJ Genom Med. 2020; 5:46.
PMID: 33110626
PMC: 7584615.
DOI: 10.1038/s41525-020-00153-w.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Manole A, Efthymiou S, OConnor E, Mendes M, Jennings M, Maroofian R
Am J Hum Genet. 2020; 107(2):311-324.
PMID: 32738225
PMC: 7413890.
DOI: 10.1016/j.ajhg.2020.06.016.
Embryonic tissue differentiation is characterized by transitions in cell cycle dynamic-associated core promoter regulation.
Wragg J, Roos L, Vucenovic D, Cvetesic N, Lenhard B, Muller F
Nucleic Acids Res. 2020; 48(15):8374-8392.
PMID: 32619237
PMC: 7470974.
DOI: 10.1093/nar/gkaa563.
Parallel Genetic Origin of Foot Feathering in Birds.
Bortoluzzi C, Megens H, Bosse M, Derks M, Dibbits B, Laport K
Mol Biol Evol. 2020; 37(9):2465-2476.
PMID: 32344429
PMC: 7475038.
DOI: 10.1093/molbev/msaa092.
Dissecting Mutation Prediction of Variants in African Genomes: Challenges and Perspectives.
Bope C, Chimusa E, Nembaware V, Mazandu G, de Vries J, Wonkam A
Front Genet. 2019; 10:601.
PMID: 31293624
PMC: 6603221.
DOI: 10.3389/fgene.2019.00601.
Targeted ultra-deep sequencing of a South African Bantu-speaking cohort to comprehensively map and characterize common and novel variants in 65 pharmacologically-related genes.
Tshabalala S, Choudhury A, Beeton-Kempen N, Martinson N, Ramsay M, Mancama D
Pharmacogenet Genomics. 2019; 29(7):167-178.
PMID: 31162291
PMC: 6675649.
DOI: 10.1097/FPC.0000000000000380.
Genome-epigenome interactions associated with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome.
Herrera S, de Vega W, Ashbrook D, Vernon S, McGowan P
Epigenetics. 2018; 13(12):1174-1190.
PMID: 30516085
PMC: 6986787.
DOI: 10.1080/15592294.2018.1549769.
Genetic variation affecting exon skipping contributes to brain structural atrophy in Alzheimer's disease.
Lee Y, Han S, Kim D, Kim D, Horgousluoglu E, Risacher S
AMIA Jt Summits Transl Sci Proc. 2018; 2017:124-131.
PMID: 29888056
PMC: 5961815.
Identification of substrates of the small RNA methyltransferase Hen1 in mouse spermatogonial stem cells and analysis of its methyl-transfer domain.
Peng L, Zhang F, Shang R, Wang X, Chen J, Chou J
J Biol Chem. 2018; 293(26):9981-9994.
PMID: 29703750
PMC: 6028966.
DOI: 10.1074/jbc.RA117.000837.
The small molecule ISRIB rescues the stability and activity of Vanishing White Matter Disease eIF2B mutant complexes.
Liang Wong Y, LeBon L, Edalji R, Lim H, Sun C, Sidrauski C
Elife. 2018; 7.
PMID: 29489452
PMC: 5829914.
DOI: 10.7554/eLife.32733.