Author details

Full Name

Richard A Gatti

Affiliation

ORCID

Career Start Year

1966

Papers

312

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
34153142	Genes affecting ionizing radiation survival identified through combined exome sequencing and functional screening.	Hum Mutat	2021
31347043	Mass Spectrometry-Based Tissue Imaging of Small Molecules.	Adv Exp Med Biol	2019
31748230	Impaired ATM activation in B cells is associated with bone resorption in rheumatoid arthritis.	Science Translational Medicine	2019
29029884	Identification of ATIC as a Novel Target for Chemoradiosensitization.	Int J Radiat Oncol Biol Phys	2018
28477107	Assaying Radiosensitivity of Ataxia-Telangiectasia.	Methods in Molecular Biology	2017
26721895	Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family.	Haematologica	2016
26883462	RNA sequencing reveals the consequences of a novel insertion in dedicator of cytokinesis-8.	Journal of Allergy and Clinical Immunology	2016
26287674	Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.	PLoS ONE	2015
25914063	Ataxia-telangiectasia with female fertility.	American Journal of Medical Genetics, Part A	2015
25646469	Aberrant recombination and repair during immunoglobulin class switching in BRCA1-deficient human B cells.	Proceedings of the National Academy of Sciences of the United States of America	2015
25677497	Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).	J Clin Immunol	2015
25077176	A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity.	Molecular genetics & genomic medicine	2014
24123394	Extreme growth failure is a common presentation of ligase IV deficiency.	Hum Mutat	2014
24952187	Mass spectrometry-based tissue imaging of small molecules.	Adv Exp Med Biol	2014
24760770	Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.	Hum Mol Genet	2014
24892279	Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.	PLoS One	2014
24651433	Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks.	Cell Death Dis	2014
23696749	ATM-dependent MiR-335 targets CtIP and modulates the DNA damage response.	PLoS Genetics	2013
23774824	A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene.	Molecular Therapy	2013
24218596	Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.	Proceedings of the National Academy of Sciences of the United States of America	2013
23199656	Aberrant overexpression of miR-421 downregulates ATM and leads to a pronounced DSB repair defect and clinical hypersensitivity in SKX squamous cell carcinoma.	Radiotherapy and Oncology	2013
23440242	Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions.	Blood	2013
23211698	Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).	European Journal of Human Genetics	2013
23652012	SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs.	Nature Communications	2013
21978196	Heterotopic Purkinje cells in ataxia-telangiectasia.	Neuropathology	2012
22552818	Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.	Neurogenetics	2012
22364446	SMRT compounds correct nonsense mutations in primary immunodeficiency and other genetic models.	Annals of the New York Academy of Sciences	2012
23197857	Induced pluripotent stem cells from ataxia-telangiectasia recapitulate the cellular phenotype.	Stem Cells Transl Med	2012
22240110	Rapid and progressive pulmonary fibrosis in 2 families with DNA repair deficiencies of undetermined etiology.	Journal of Pediatrics	2012
22006793	Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.	Human Mutation	2012
22200558	Common copy number variations in fifty radiosensitive cell lines.	Genomics	2012
21962002	Comprehensive profiling of radiosensitive human cell lines with DNA damage response assays identifies the neutral comet assay as a potential surrogate for clonogenic survival.	Radiation Research	2012
21827897	Ataxia-telangiectasia.	Handbook of Clinical Neurology	2012
21905016	Defective DNA double-strand break repair in pediatric systemic lupus erythematosus.		2012
21593342	Stable brain ATM message and residual kinase-active ATM protein in ataxia-telangiectasia.	Journal of Neuroscience	2011
21394101	Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia.	Cell Death Differ	2011
21147113	Potential therapeutic applications of antisense morpholino oligonucleotides in modulation of splicing in primary immunodeficiency diseases.	Journal of Immunological Methods	2011
21236386	A history of bone marrow transplantation.	Hematology/Oncology Clinics of North America	2011
21183529	MicroRNAs: new players in the DNA damage response.	Journal of Molecular Cell Biology	2011
21401317	High throughput screening of small molecule libraries for modifiers of radiation responses.		2011
21576124	Arginine-rich cell-penetrating peptide dramatically enhances AMO-mediated ATM aberrant splicing correction and enables delivery to brain and cerebellum.	Human Molecular Genetics	2011
21722985	Assessing 'radiosensitivity' with kinetic profiles of Î³-H2AX, 53BP1 and BRCA1 foci.	Radiotherapy and Oncology	2011
21873052	Synthesis and evaluation of compounds that induce readthrough of premature termination codons.	Bioorganic and Medicinal Chemistry Letters	2011
20051774	Ataxia-telangiectasia with hyper-IgM and Wilms tumor: fatal reaction to irradiation.	Journal of Pediatric Hematology/Oncology	2010
20864035	AID-induced genotoxic stress promotes B cell differentiation in the germinal center via ATM and LKB1 signaling.	Molecular Cell	2010
20566716	ATM-deficient thymic lymphoma is associated with aberrant tcrd rearrangement and gene amplification.	J Exp Med	2010
20080624	ATM is down-regulated by N-Myc-regulated microRNA-421.	Proceedings of the National Academy of Sciences of the United States of America	2010
20113883	A history of bone marrow transplantation.	Immunology and Allergy Clinics of North America	2010
20305132	Radiation exposure, the ATM Gene, and contralateral breast cancer in the women's environmental cancer and radiation epidemiology study.	J Natl Cancer Inst	2010
18634022	Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.	Human Mutation	2009