Ormond et al. 2021 in Briefings in Bioinformatics
Title: Converting single nucleotide variants between genome builds: from cautionary tale to solution
Samples Used: NA12878 and NA12877
Lou et al. 2021 in Environment International
Title: Environmentally induced ribosomal DNA (rDNA) instability in human cells and populations exposed to hexavalent chromium [Cr (VI)]
Samples Used: NA12878
Pettinato et al. 2021 in Cell Reports
Title: Sarcomere function activates a p53-dependent DNA damage response that promotes polyploidization and limits in vivo cell engraftment
Samples Used: GM23338
Raimo et al. 2021 in Redox Biology
Title: Mitochondrial morphology, bioenergetics and proteomic responses in fatty acid oxidation disorders
Samples Used: GM17475, GM07843, GM17482, and GM20265
Title: A small-molecule ICMT inhibitor delays senescence of Hutchinson-Gilford progeria syndrome cells
Samples Used: GM01972, AG03513, AG03258, and AG03512
Lamontagne et al. 2021 in PLoS Pathogens
Title: A multi-omics approach to Epstein-Barr virus immortalization of B-cells reveals EBNA1 chromatin pioneering activities targeting nucleotide metabolism
Samples Used: GM11411, GM02471, GM11412, GM11413, and GM02472
Martinez-Sanz et al. 2021 in Emerging Microbes & Infections
Title: Role of ACE2 genetic polymorphisms in susceptibility to SARS-CoV-2 among highly exposed but non infected healthcare workers
Samples Used: GM01972, AG03513, AG03258, and AG03512
Khosravifarsani et al. 2021 in Journal of Medicinal Chemistry
Title: High Cytotoxic Effect by Combining Copper-64 with a NOTA-Terpyridine Platinum Conjugate
Samples Used: GM05757
Miller et al. 2020 in Nature Biotechnology:
Title: Continuous evolution of SpCas9 variants compatible with non-G PAMs
Samples Used: GM04541
Michelet et al. 2020 in Stem Cell Research & Therapy:
Title: Rapid generation of purified human RPE from pluripotent stem cells using 2D cultures and lipoprotein uptake-based sorting
Samples Used: GM23280
Long et al. 2020 in Nature Communications:
Title: Structural basis for itraconazole-mediated NPC1 inhibition
Samples Used: GM00639
Pierzynowska et al. 2020 in International Journal of Molecular Sciences:
Title: Genetic Base of Behavioral Disorders in Mucopolysaccharidoses: Transcriptomic Studies
Samples Used: GM00798, GM13203, GM00879, GM00156, GM05157, GM05093, GM00593, GM03251, GM03722, GM00121, and GM17494
Liu et al. 2020 in Cancer Research:
Title: ATM Paradoxically Promotes Oncogenic Transformation via Transcriptional Reprogramming
Samples Used: GM01588, GM02052, GM03395, AG11555, AG04350, and AG11249
Nakamori et al. 2020 in Nature Genetics:
Title: A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo
Title: CRISPR-mediated live imaging of genome editing and transcription
Samples Used: GM00957
Lee et al. 2019 in Nature Methods:
Title: Simultaneous profiling of 3D genome structure and DNA methylation in single human cells
Samples Used: GM12878
Qu et al. 2019 in Nature Biotechnology:
Title: Programmable RNA editing by recruiting endogenous ADAR using engineered RNAs
Low et al. 2019 in Cell Stem Cell:
Title: Generation of Human PSC-Derived Kidney Organoids with Patterned Nephron Segments and a De Novo Vascular Network
Samples Used: GM10287
Potapova et al. 2019 in Journal of Cell Biology:
Title: Superresolution microscopy reveals linkages between ribosomal DNA on heterologous chromosomes
Samples Used: GM15292
Kitsera et al. 2019 in Nucleic Acids Research:
Title: Nucleotide excision repair of abasic DNA lesions
Samples Used: GM04312, GM15876, GM16095, GM16094, and GM15983
Ozgyin et al. 2019 in Scientific Reports:
Title: Extensive epigenetic and transcriptomic variability between genetically identical human B-lymphoblastoid cells with implications in pharmacogenomics research
Samples Used: GM22647, GM22648, GM22649, GM22650, and GM22651
Korogi et al. 2019 in Stem Cell Reports:
Title: In Vitro Disease Modeling of Hermansky-Pudlak Syndrome Type 2 Using Human Induced Pluripotent Stem Cell-Derived Alveolar Organoids
Samples Used: GM17890
Title: Error-Prone Replication through UV Lesions by DNA Polymerase θ Protects against Skin Cancers
Li et al. 2019 in Stem Cell Research:
Title: Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene
Shen et al. 2019 in Nature Neuroscience:
Title: Reduced mitochondrial fusion and Huntingtin levels contribute to impaired dendritic maturation and behavioral deficits in Fmr1-mutant mice
Samples Used: GM00498
Folk et al. 2019 in Journal of Biological Chemistry:
Title: Loss of the tumor suppressor BIN1 enables ATM Ser/Thr kinase activation by the nuclear protein E2F1 and renders cancer cells resistant to cisplatin
Pal et al. 2019 in Proceedings of the National Academy of Sciences of the United States of America:
Title: Abnormal glycogen storage in tuberous sclerosis complex caused by impairment of mTORC1-dependent and -independent signaling pathways
Flint et al. 2019 in Nature Communications:
Title: A genome-wide CRISPR screen identifies N-acetylglucosamine-1-phosphate transferase as a potential antiviral target for Ebola virus
Samples Used: GM05659, GM03066, GM00080, GM00081, GM01586, GM01589, GM01590, GM03112, GM02046, GM02047, GM03391, GM01494, GM02425, GM02065, GM00113, GM02558, GM17914, GM03123, GM18411, GM05659, GM05565, and GM00038
Liang et al. 2019 in Cell Reports:
Title: Binding of FANCI-FANCD2 Complex to RNA and R-Loops Stimulates Robust FANCD2 Monoubiquitination
Samples Used: GM16756
Cohn et al. 2019 in Stem Cell Reports:
Title: A Contraction Stress Model of Hypertrophic Cardiomyopathy due to Sarcomere Mutations
Samples Used: GM23338
Nadadhur et al. 2018 in Stem Cell Reports:
Title: Neuron-Glia Interactions Increase Neuronal Phenotypes in Tuberous Sclerosis Complex Patient iPSC-Derived Models
Schrank et al. 2018 in Nature:
Title: Nuclear ARP2/3 drives DNA break clustering for homology-directed repair
Title: Predictable and precise template-free CRISPR editing of pathogenic variant
Backhoum et al. 2018 in Nature:
Title: Chromosomal instability drives metastasis through a cytosolic DNA response
Title: Higher-order inter-chromosomal hubs shape 3D genome organization in the nucleus
Samples Used: GM12878
Title: Urea cycle dysregulation generates clinically relevant genomic and biochemical signatures
Samples Used: GM06902
Title: Disease-associated short tandem repeats co-localize with chromatin domain boundaries
Title: Direct promoter repression by BCL11A controls the fetal to adult hemoglobin switch
Samples Used: GM00086
Title: Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts
Samples Used: GM23780
Title: Inhibition of HDAC3 reverses Alzheimer's disease-related pathologies in vitro and in the 3xTg-AD mouse model
Samples Used: GM24675
Schaffer et al. 2018 in Nature Genetics:
Title: Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration
Samples Used: GM09209
Ihry et al. 2018 in Nature Medicine:
Title: p53 inhibits CRISPR-Cas9 engineering in human pluripotent stem cells
Samples Used: GM08402
Cruz et al. 2018 in Journal of Biological Chemistry:
Title: Protein kinase A activation inhibits DUX4 gene expression in myotubes from patients with facioscapulohumeral muscular dystrophy
Payer et al. 2018 in Nucleic Acids Research:
Title: Alu insertion variants alter mRNA splicing
Samples Used: HAPMAPPT01
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