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  • Search Condition : Filter (MeSH = Genetic Association Studies)
Species Resource Title
Human and Animal Cells 201B7(HPS0063) Induced pluripotent stem cells established from a female patient with Xq22 deletion confirm that BEX2 escapes from X-chromosome inactivation.
Zebrafish Tg(cmlc2:Mermaid) Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases.
Human and Animal Cells 293(RCB1637) Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia.
C.elegans tm2452 , tm925 Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans.
Human and Animal Cells MKN45(RCB1001) CRISPR Screens Provide a Comprehensive Assessment of Cancer Vulnerabilities but Generate False-Positive Hits for Highly Amplified Genomic Regions.
Human and Animal Cells LC-2/ad(RCB0440) Loss of YAP1 defines neuroendocrine differentiation of lung tumors.
Medaka HdrR-II1 (IB178) , HNI-II (IB176) , HSOK (IB183) Centromere evolution and CpG methylation during vertebrate speciation.
Medaka O. celebensis (Ujung pandang) (RS278) Genome editing reveals fitness effects of a gene for sexual dichromatism in Sulawesian fishes.
DNA material pGL4-phGLI1 (RDB07902) , pcDNA3.1-His-hGLI3 (RDB08066) Novel GLI3 pathogenic variants in complex pre- and postaxial polysyndactyly and Greig cephalopolysyndactyly syndrome.
Clawed frogs / Newts A simple and practical workflow for genotyping of CRISPR-Cas9-based knockout phenotypes using multiplexed amplicon sequencing.
C.elegans tm6139 Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans.
C.elegans tm2149 , tm1297 Forward Genetic Screen for Caenorhabditis elegans Mutants with a Shortened Locomotor Healthspan.
Drosophila Ras2, the TC21/R-Ras2 Drosophila homologue, contributes to insulin signalling but is not required for organism viability.
Drosophila D. melanogaster (Hikone-R)  Genome-wide association analysis of host genotype and plastic wing morphological variation of an endoparasitoid wasp Asobara japonica (Hymenoptera: Braconidae).
Mice RBRC01828 New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis.
Barley Seed sample of H602 The β-Ketoacyl-CoA Synthase HvKCS1, Encoded by Cer-zh, Plays a Key Role in Synthesis of Barley Leaf Wax and Germination of Barley Powdery Mildew.
C.elegans tm840 Quantitating transcription factor redundancy: The relative roles of the ELT-2 and ELT-7 GATA factors in the C. elegans endoderm.
DNA material CSIV-RfA-TRE-EF-KT (RDB12872) Whole-Genome DNA Methylation Analyses Revealed Epigenetic Instability in Tumorigenic Human iPS Cell-Derived Neural Stem/Progenitor Cells.
Prokaryotes E. coli Novel features of the ISC machinery revealed by characterization of Escherichia coli mutants that survive without iron-sulfur clusters.
C.elegans tm2026 , tm1298 Genomic Scars Generated by Polymerase Theta Reveal the Versatile Mechanism of Alternative End-Joining.