| Year |
Citation |
Score |
| 2021 |
Perez H, Abdallah MF, Chavira JI, Norris AS, Egeland MT, Vo KL, Buechsenschuetz CL, Sanghez V, Kim JL, Pind M, Nakamura K, Hicks GG, Gatti RA, Madrenas J, Iacovino M, et al. A novel, ataxic mouse model of ataxia telangiectasia caused by a clinically relevant nonsense mutation. Elife. 10. PMID 34723800 DOI: 10.7554/eLife.64695 |
0.315 |
|
| 2017 |
Liu X, Paila UD, Teraoka SN, Wright JA, Huang X, Quinlan AR, Gatti RA, Concannon P. Identification of ATIC as a Novel Target for Chemoradiosensitization. International Journal of Radiation Oncology, Biology, Physics. PMID 29029884 DOI: 10.1016/J.Ijrobp.2017.08.033 |
0.334 |
|
| 2017 |
Hu H, Nahas S, Gatti RA. Assaying Radiosensitivity of Ataxia-Telangiectasia. Methods in Molecular Biology (Clifton, N.J.). 1599: 1-11. PMID 28477107 DOI: 10.1007/978-1-4939-6955-5_1 |
0.726 |
|
| 2015 |
Pathak A, Seipel K, Pemov A, Dewan R, Brown C, Ravichandran S, Luke BT, Malasky M, Suman S, Yeager M, Cancer GenomicsResearch Laboratory ND, Cancer Sequencing Working Group ND, Parry DM, Gatti RA, Caporaso NE, et al. Whole-exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow-up of a large family. Haematologica. PMID 26721895 DOI: 10.3324/Haematol.2015.130799 |
0.392 |
|
| 2015 |
Gómez-Grau M, Garrido E, Cozar M, Rodriguez-Sureda V, Domínguez C, Arenas C, Gatti RA, Cormand B, Grinberg D, Vilageliu L. Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases. Plos One. 10: e0135873. PMID 26287674 DOI: 10.1371/Journal.Pone.0135873 |
0.372 |
|
| 2015 |
Patel JP, Puck JM, Srinivasan R, Brown C, Sunderam U, Kundu K, Brenner SE, Gatti RA, Church JA. Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs). Journal of Clinical Immunology. 35: 227-33. PMID 25677497 DOI: 10.1007/s10875-015-0136-6 |
0.413 |
|
| 2015 |
Björkman A, Qvist P, Du L, Bartish M, Zaravinos A, Georgiou K, Børglum AD, Gatti RA, Törngren T, Pan-Hammarström Q. 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. 112: 2157-62. PMID 25646469 DOI: 10.1073/Pnas.1418947112 |
0.359 |
|
| 2015 |
Pathak A, Seipel K, Pemov A, Dewan R, Brown C, Ravichandran S, Luke BT, Yeager M, Gatti RA, Caporaso N, Mulvihill JJ, Goldin L, Pabst TM, McMaster ML, Stewart DR. Abstract 2756: Whole-exome sequencing reveals a novel germline variant in CEBPA-associated familial acute myeloid leukemia: 45-year follow-up of a large family Cancer Research. 75: 2756-2756. DOI: 10.1158/1538-7445.Am2015-2756 |
0.397 |
|
| 2014 |
Nakamura K, Fike F, Haghayegh S, Saunders-Pullman R, Dawson AJ, Dörk T, Gatti RA. 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. 2: 332-40. PMID 25077176 DOI: 10.1002/Mgg3.72 |
0.441 |
|
| 2014 |
Stewart DR, Pemov A, Johnston JJ, Sapp JC, Yeager M, He J, Boland JF, Burdett L, Brown C, Gatti RA, Alter BP, Biesecker LG, Savage SA. Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders. Plos One. 9: e98686. PMID 24892279 DOI: 10.1371/Journal.Pone.0098686 |
0.403 |
|
| 2014 |
Fogel BL, Cho E, Wahnich A, Gao F, Becherel OJ, Wang X, Fike F, Chen L, Criscuolo C, De Michele G, Filla A, Collins A, Hahn AF, Gatti RA, Konopka G, et al. Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2. Human Molecular Genetics. 23: 4758-69. PMID 24760770 DOI: 10.1093/Hmg/Ddu190 |
0.363 |
|
| 2014 |
Martin NT, Nakamura K, Paila U, Woo J, Brown C, Wright JA, Teraoka SN, Haghayegh S, McCurdy D, Schneider M, Hu H, Quinlan AR, Gatti RA, Concannon P. Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks. Cell Death & Disease. 5: e1130. PMID 24651433 DOI: 10.1038/Cddis.2014.99 |
0.744 |
|
| 2014 |
Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth JS, ... ... Gatti RA, et al. Extreme growth failure is a common presentation of ligase IV deficiency. Human Mutation. 35: 76-85. PMID 24123394 DOI: 10.1002/Humu.22461 |
0.384 |
|
| 2014 |
Xu J, Patel Z, Kottyan LC, Gatti RA, McCurdy DK, Kaufman KM, Harley JB. DNA repair in lupus Arthritis Research & Therapy. 16: 1-23. DOI: 10.1186/Ar4623 |
0.313 |
|
| 2014 |
Etzioni A, Ochs HD, McCurdy D, Gatti RA. Finally Found: The Ataxia-Telangiectasia Gene and its Function Primary Immunodeficiency Disorders: a Historic and Scientific Perspective. 83-95. DOI: 10.1016/B978-0-12-407179-7.00008-4 |
0.379 |
|
| 2013 |
Kuschal C, DiGiovanna JJ, Khan SG, Gatti RA, Kraemer KH. 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. 110: 19483-8. PMID 24218596 DOI: 10.1073/Pnas.1312088110 |
0.387 |
|
| 2013 |
Du L, Jung ME, Damoiseaux R, Completo G, Fike F, Ku JM, Nahas S, Piao C, Hu H, Gatti RA. A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene. Molecular Therapy : the Journal of the American Society of Gene Therapy. 21: 1653-60. PMID 23774824 DOI: 10.1038/Mt.2013.150 |
0.695 |
|
| 2013 |
Martin NT, Nakamura K, Davies R, Nahas SA, Brown C, Tunuguntla R, Gatti RA, Hu H. ATM-dependent MiR-335 targets CtIP and modulates the DNA damage response. Plos Genetics. 9: e1003505. PMID 23696749 DOI: 10.1371/Journal.Pgen.1003505 |
0.765 |
|
| 2013 |
Lee P, Martin NT, Nakamura K, Azghadi S, Amiri M, Ben-David U, Perlman S, Gatti RA, Hu H, Lowry WE. SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs. Nature Communications. 4: 1824. PMID 23652012 DOI: 10.1038/Ncomms2824 |
0.726 |
|
| 2013 |
Ambrose M, Gatti RA. Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions. Blood. 121: 4036-45. PMID 23440242 DOI: 10.1182/Blood-2012-09-456897 |
0.435 |
|
| 2013 |
Cavalieri S, Pozzi E, Gatti RA, Brusco A. Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO). European Journal of Human Genetics : Ejhg. 21: 774-8. PMID 23211698 DOI: 10.1038/Ejhg.2012.266 |
0.429 |
|
| 2013 |
Mansour WY, Bogdanova NV, Kasten-Pisula U, Rieckmann T, Köcher S, Borgmann K, Baumann M, Krause M, Petersen C, Hu H, Gatti RA, Dikomey E, Dörk T, Dahm-Daphi J. 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 : Journal of the European Society For Therapeutic Radiology and Oncology. 106: 147-54. PMID 23199656 DOI: 10.1016/J.Radonc.2012.10.020 |
0.328 |
|
| 2013 |
Lim KJ, Stiehm ER, Gatti R, Yang O. Disseminated Aspergillosis in Adult-Onset Severe Combined Immunodeficiency: A Case of Xcind Syndrome The Journal of Allergy and Clinical Immunology. 131. DOI: 10.1016/J.Jaci.2012.12.1210 |
0.386 |
|
| 2012 |
Nayler S, Gatei M, Kozlov S, Gatti R, Mar JC, Wells CA, Lavin M, Wolvetang E. Induced pluripotent stem cells from ataxia-telangiectasia recapitulate the cellular phenotype. Stem Cells Translational Medicine. 1: 523-35. PMID 23197857 DOI: 10.5966/Sctm.2012-0024 |
0.418 |
|
| 2012 |
Mancini C, Vaula G, Scalzitti L, Cavalieri S, Bertini E, Aiello C, Lucchini C, Gatti RA, Brussino A, Brusco A. 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. 13: 205-14. PMID 22552818 DOI: 10.1007/S10048-012-0331-Z |
0.422 |
|
| 2012 |
Gatti RA. SMRT compounds correct nonsense mutations in primary immunodeficiency and other genetic models. Annals of the New York Academy of Sciences. 1250: 33-40. PMID 22364446 DOI: 10.1111/J.1749-6632.2012.06467.X |
0.39 |
|
| 2012 |
Saunders-Pullman R, Raymond D, Stoessl AJ, Hobson D, Nakamura K, Nakamura T, Pullman S, Lefton D, Okun MS, Uitti R, Sachdev R, Stanley K, San Luciano M, Hagenah J, Gatti R, et al. Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. Neurology. 78: 649-57. PMID 22345219 DOI: 10.1212/Wnl.0B013E3182494D51 |
0.431 |
|
| 2012 |
Vece TJ, Schecter MG, Gatti RA, Tunuguntla R, Garcia CK, Langston C, Dishop MK, Moore RH, Fan LL. Rapid and progressive pulmonary fibrosis in 2 families with DNA repair deficiencies of undetermined etiology. The Journal of Pediatrics. 160: 700-702.e3. PMID 22240110 DOI: 10.1016/J.Jpeds.2011.12.001 |
0.351 |
|
| 2012 |
Li X, Zhou J, Nahas SA, Wan H, Hu H, Gatti RA. Common copy number variations in fifty radiosensitive cell lines. Genomics. 99: 96-100. PMID 22200558 DOI: 10.1016/J.Ygeno.2011.11.001 |
0.657 |
|
| 2012 |
Nakamura K, Du L, Tunuguntla R, Fike F, Cavalieri S, Morio T, Mizutani S, Brusco A, Gatti RA. Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. Human Mutation. 33: 198-208. PMID 22006793 DOI: 10.1002/Humu.21632 |
0.442 |
|
| 2012 |
Bottini AR, Gatti RA, Wirenfeldt M, Vinters HV. Heterotopic Purkinje cells in ataxia-telangiectasia. Neuropathology : Official Journal of the Japanese Society of Neuropathology. 32: 23-9. PMID 21978196 DOI: 10.1111/J.1440-1789.2011.01210.X |
0.367 |
|
| 2012 |
Nahas SA, Davies R, Fike F, Nakamura K, Du L, Kayali R, Martin NT, Concannon P, Gatti RA. 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. 177: 176-86. PMID 21962002 DOI: 10.1667/Rr2580.1 |
0.795 |
|
| 2012 |
Davies RC, Pettijohn K, Fike F, Wang J, Nahas SA, Tunuguntla R, Hu H, Gatti RA, McCurdy D. Defective DNA double-strand break repair in pediatric systemic lupus erythematosus. Arthritis and Rheumatism. 64: 568-78. PMID 21905016 DOI: 10.1002/Art.33334 |
0.679 |
|
| 2012 |
Perlman SL, Boder Deceased E, Sedgewick RP, Gatti RA. Ataxia-telangiectasia. Handbook of Clinical Neurology. 103: 307-32. PMID 21827897 DOI: 10.1016/B978-0-444-51892-7.00019-X |
0.355 |
|
| 2011 |
Martin NT, Nahas SA, Tunuguntla R, Fike F, Gatti RA. Assessing 'radiosensitivity' with kinetic profiles of γ-H2AX, 53BP1 and BRCA1 foci. Radiotherapy and Oncology : Journal of the European Society For Therapeutic Radiology and Oncology. 101: 35-8. PMID 21722985 DOI: 10.1016/J.Radonc.2011.05.065 |
0.788 |
|
| 2011 |
Li J, Chen J, Vinters HV, Gatti RA, Herrup K. Stable brain ATM message and residual kinase-active ATM protein in ataxia-telangiectasia. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 31: 7568-77. PMID 21593342 DOI: 10.1523/Jneurosci.0778-11.2011 |
0.415 |
|
| 2011 |
Du L, Kayali R, Bertoni C, Fike F, Hu H, Iversen PL, Gatti RA. Arginine-rich cell-penetrating peptide dramatically enhances AMO-mediated ATM aberrant splicing correction and enables delivery to brain and cerebellum. Human Molecular Genetics. 20: 3151-60. PMID 21576124 DOI: 10.1093/Hmg/Ddr217 |
0.39 |
|
| 2011 |
Kim K, Damoiseaux R, Norris AJ, Rivina L, Bradley K, Jung ME, Gatti RA, Schiestl RH, McBride WH. High throughput screening of small molecule libraries for modifiers of radiation responses. International Journal of Radiation Biology. 87: 839-45. PMID 21401317 DOI: 10.3109/09553002.2011.560994 |
0.316 |
|
| 2011 |
Devgan SS, Sanal O, Doil C, Nakamura K, Nahas SA, Pettijohn K, Bartek J, Lukas C, Lukas J, Gatti RA. Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia. Cell Death and Differentiation. 18: 1500-6. PMID 21394101 DOI: 10.1038/Cdd.2011.18 |
0.733 |
|
| 2011 |
Hu H, Gatti RA. MicroRNAs: new players in the DNA damage response. Journal of Molecular Cell Biology. 3: 151-8. PMID 21183529 DOI: 10.1093/Jmcb/Mjq042 |
0.315 |
|
| 2011 |
Du L, Gatti RA. Potential therapeutic applications of antisense morpholino oligonucleotides in modulation of splicing in primary immunodeficiency diseases. Journal of Immunological Methods. 365: 1-7. PMID 21147113 DOI: 10.1016/J.Jim.2010.12.001 |
0.373 |
|
| 2011 |
Uhrhammer N, Bay J, Gatti R. Nijmegen breakage syndrome Atlas of Genetics and Cytogenetics in Oncology and Haematology. DOI: 10.4267/2042/37571 |
0.301 |
|
| 2011 |
Uhrhammer N, Bay J, Gatti RA. NBS1 (Nijmegen breakage syndrome 1) Atlas of Genetics and Cytogenetics in Oncology and Haematology. DOI: 10.4267/2042/37551 |
0.334 |
|
| 2011 |
Uhrhammer N, Bay J, Gatti RA. ATM (ataxia telangiectasia mutated) Atlas of Genetics and Cytogenetics in Oncology and Haematology. DOI: 10.4267/2042/37550 |
0.423 |
|
| 2010 |
Sherman MH, Kuraishy AI, Deshpande C, Hong JS, Cacalano NA, Gatti RA, Manis JP, Damore MA, Pellegrini M, Teitell MA. AID-induced genotoxic stress promotes B cell differentiation in the germinal center via ATM and LKB1 signaling. Molecular Cell. 39: 873-85. PMID 20864035 DOI: 10.1016/J.Molcel.2010.08.019 |
0.314 |
|
| 2010 |
Zha S, Bassing CH, Sanda T, Brush JW, Patel H, Goff PH, Murphy MM, Tepsuporn S, Gatti RA, Look AT, Alt FW. ATM-deficient thymic lymphoma is associated with aberrant tcrd rearrangement and gene amplification. The Journal of Experimental Medicine. 207: 1369-80. PMID 20566716 DOI: 10.1084/Jem.20100285 |
0.375 |
|
| 2010 |
Hu H, Du L, Nagabayashi G, Seeger RC, Gatti RA. ATM is down-regulated by N-Myc-regulated microRNA-421. Proceedings of the National Academy of Sciences of the United States of America. 107: 1506-11. PMID 20080624 DOI: 10.1073/Pnas.0907763107 |
0.329 |
|
| 2010 |
Pietrucha BM, Heropolitańska-Pliszka E, Wakulińska A, Skopczyńska H, Gatti RA, Bernatowska E. Ataxia-telangiectasia with hyper-IgM and Wilms tumor: fatal reaction to irradiation. Journal of Pediatric Hematology/Oncology. 32: e28-30. PMID 20051774 DOI: 10.1097/Mph.0B013E3181Bfd3D9 |
0.378 |
|
| 2009 |
Kim K, Pollard JM, Norris AJ, McDonald JT, Sun Y, Micewicz E, Pettijohn K, Damoiseaux R, Iwamoto KS, Sayre JW, Price BD, Gatti RA, McBride WH. High-throughput screening identifies two classes of antibiotics as radioprotectors: tetracyclines and fluoroquinolones. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. 15: 7238-45. PMID 19920105 DOI: 10.1158/1078-0432.Ccr-09-1964 |
0.662 |
|
| 2009 |
Nahas SA, Gatti RA. DNA double strand break repair defects, primary immunodeficiency disorders, and 'radiosensitivity'. Current Opinion in Allergy and Clinical Immunology. 9: 510-6. PMID 19858715 DOI: 10.1097/Aci.0B013E328332Be17 |
0.705 |
|
| 2009 |
Du L, Damoiseaux R, Nahas S, Gao K, Hu H, Pollard JM, Goldstine J, Jung ME, Henning SM, Bertoni C, Gatti RA. Nonaminoglycoside compounds induce readthrough of nonsense mutations. The Journal of Experimental Medicine. 206: 2285-97. PMID 19770270 DOI: 10.1084/Jem.20081940 |
0.802 |
|
| 2009 |
Morio T, Takahashi N, Watanabe F, Honda F, Sato M, Takagi M, Imadome K, Miyawaki T, Delia D, Nakamura K, Gatti RA, Mizutani S. Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan. International Journal of Hematology. 90: 455-62. PMID 19705055 DOI: 10.1007/S12185-009-0408-0 |
0.338 |
|
| 2009 |
Yanofsky RA, Seshia SS, Dawson AJ, Stobart K, Greenberg CR, Booth FA, Prasad C, Del Bigio MR, Wrogemann JJ, Fike F, Gatti RA. Ataxia-telangiectasia: atypical presentation and toxicity of cancer treatment. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 36: 462-7. PMID 19650357 DOI: 10.1017/S0317167100007794 |
0.327 |
|
| 2009 |
Pollard JM, Gatti RA. Clinical radiation sensitivity with DNA repair disorders: an overview. International Journal of Radiation Oncology, Biology, Physics. 74: 1323-31. PMID 19616740 DOI: 10.1016/J.Ijrobp.2009.02.057 |
0.705 |
|
| 2009 |
Saunders-Pullman RJ, Gatti R. Ataxia-telangiectasia: Without ataxia or telangiectasia? Neurology. 73: 414-415. PMID 19605768 DOI: 10.1212/Wnl.0B013E3181B39140 |
0.413 |
|
| 2009 |
Gatti RA, Perlman S. A proposed bailout for A-T patients? European Journal of Neurology. 16: 653-5. PMID 19459929 DOI: 10.1111/J.1468-1331.2009.02597.X |
0.421 |
|
| 2009 |
Reliene R, Pollard JM, Sobol Z, Trouiller B, Gatti RA, Schiestl RH. N-acetyl cysteine protects against ionizing radiation-induced DNA damage but not against cell killing in yeast and mammals. Mutation Research. 665: 37-43. PMID 19427509 DOI: 10.1016/J.Mrfmmm.2009.02.016 |
0.703 |
|
| 2009 |
Pollard JM, Reboucas JS, Durazo A, Kos I, Fike F, Panni M, Gralla EB, Valentine JS, Batinic-Haberle I, Gatti RA. Radioprotective effects of manganese-containing superoxide dismutase mimics on ataxia-telangiectasia cells. Free Radical Biology & Medicine. 47: 250-60. PMID 19389472 DOI: 10.1016/J.Freeradbiomed.2009.04.018 |
0.708 |
|
| 2009 |
Nahas SA, Butch AW, Du L, Gatti RA. Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes. Clinical Chemistry. 55: 463-72. PMID 19147735 DOI: 10.1373/Clinchem.2008.107128 |
0.703 |
|
| 2009 |
Mitui M, Nahas SA, Du LT, Yang Z, Lai CH, Nakamura K, Arroyo S, Scott S, Purayidom A, Concannon P, Lavin M, Gatti RA. Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk. Human Mutation. 30: 12-21. PMID 18634022 DOI: 10.1002/Humu.20805 |
0.769 |
|
| 2009 |
Pollard JM, Reboucas JS, Durazo A, Kos I, Fike F, Panni M, Gralla EB, Valentine JS, Batinic-Haberle I, Gatti RA. Corrigendum to "Radio-protective effects of manganese-containing superoxide dismutase mimics on ataxia telangiectasia cells" [Free Radic. Biol. Med. 47/3 (2009) 250-260] (DOI:10.1016/j.freeradbiomed.2009.04.018) Free Radical Biology and Medicine. 47: 1234. DOI: 10.1016/J.Freeradbiomed.2009.07.004 |
0.655 |
|
| 2008 |
Hu H, Gatti RA. New approaches to treatment of primary immunodeficiencies: fixing mutations with chemicals. Current Opinion in Allergy and Clinical Immunology. 8: 540-6. PMID 18978469 DOI: 10.1097/Aci.0B013E328314B63B |
0.326 |
|
| 2008 |
Ehlayel M, de Beaucoudrey L, Fike F, Nahas SA, Feinberg J, Casanova JL, Gatti RA. Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor beta1 deficiency and ataxia-telangiectasia. The Journal of Allergy and Clinical Immunology. 122: 1217-9. PMID 18718650 DOI: 10.1016/J.Jaci.2008.07.005 |
0.617 |
|
| 2008 |
Concannon P, Haile RW, Børresen-Dale AL, Rosenstein BS, Gatti RA, Teraoka SN, Diep TA, Jansen L, Atencio DP, Langholz B, Capanu M, Liang X, Begg CB, Thomas DC, Bernstein L, et al. Variants in the ATM gene associated with a reduced risk of contralateral breast cancer. Cancer Research. 68: 6486-91. PMID 18701470 DOI: 10.1158/0008-5472.Can-08-0134 |
0.308 |
|
| 2008 |
Du L, Lai CH, Concannon P, Gatti RA. Rapid screen for truncating ATM mutations by PTT-ELISA. Mutation Research. 640: 139-44. PMID 18321536 DOI: 10.1016/J.Mrfmmm.2008.01.002 |
0.63 |
|
| 2008 |
Cavalieri S, Funaro A, Pappi P, Migone N, Gatti RA, Brusco A. Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20. Annals of Human Genetics. 72: 10-8. PMID 17910737 DOI: 10.1111/J.1469-1809.2007.00399.X |
0.426 |
|
| 2008 |
Jacob CMA, Pastorino AC, Santos VZC, Chong AK, Dorna M, Fomin ABF, Castro ABM, Gatti RA, Coutinho G, Carneiro-Sampaio M. Ataxia-Telangiectasia: Clinical, Laboratorial and Mutational Analysis of Patients from a Reference Center for Primary Immunodeficiency The Journal of Allergy and Clinical Immunology. 121. DOI: 10.1016/J.Jaci.2007.12.602 |
0.378 |
|
| 2008 |
Gatti R, Nahas S, Butch A. F.55. Rapid Flow Cytometry-based SMC1 Phosphorylation Assay for Identification of Ataxia-telangiectasia Homozygotes and Heterozygotes Clinical Immunology. 127. DOI: 10.1016/J.Clim.2008.03.167 |
0.626 |
|
| 2007 |
Gatti RA, Boder E, Good RA. Immunodeficiency, radiosensitivity, and the XCIND syndrome. Immunologic Research. 38: 87-101. PMID 17917014 DOI: 10.1007/S12026-007-0018-Y |
0.379 |
|
| 2007 |
Nahas SA, Duquette A, Roddier K, Gatti RA, Brais B. Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation. Neuromuscular Disorders : Nmd. 17: 968-9. PMID 17720498 DOI: 10.1016/J.Nmd.2007.06.464 |
0.703 |
|
| 2007 |
Ambrose M, Goldstine JV, Gatti RA. Intrinsic mitochondrial dysfunction in ATM-deficient lymphoblastoid cells. Human Molecular Genetics. 16: 2154-64. PMID 17606465 DOI: 10.1093/Hmg/Ddm166 |
0.344 |
|
| 2007 |
Lavin MF, Gueven N, Bottle S, Gatti RA. Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia. British Medical Bulletin. 81: 129-47. PMID 17586848 DOI: 10.1093/Bmb/Ldm012 |
0.414 |
|
| 2007 |
Landmark H, Nahas SA, Aarøe J, Gatti R, Børresen-Dale AL, Rødningen OK. Transcriptional response to ionizing radiation in human radiation sensitive cell lines Radiotherapy and Oncology. 83: 256-260. PMID 17512073 DOI: 10.1016/J.Radonc.2007.04.017 |
0.668 |
|
| 2007 |
Du L, Pollard JM, Gatti RA. Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides. Proceedings of the National Academy of Sciences of the United States of America. 104: 6007-12. PMID 17389389 DOI: 10.1073/Pnas.0608616104 |
0.727 |
|
| 2007 |
Pollard J, Angel E, McNitt-Gray M, Gatti R. SU-FF-T-211: Evaluation of Diagnostic Radiation Exposure Risks From CT Scans for a Radiosensitive Patient Medical Physics. 34: 2450-2450. DOI: 10.1118/1.2760872 |
0.659 |
|
| 2007 |
Pietrucha B, Heropolitańska-Pliszka E, Gatti RA, Bernatowska E. Ataxia-Telangiectasia: Guidelines for diagnosis and comprehensive care Central-European Journal of Immunology. 32: 234-238. DOI: 10.1016/S1090-3798(08)70052-7 |
0.426 |
|
| 2006 |
Cavalieri S, Funaro A, Porcedda P, Turinetto V, Migone N, Gatti RA, Brusco A. ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions. Human Mutation. 27: 1061. PMID 16941484 DOI: 10.1002/Humu.9454 |
0.446 |
|
| 2006 |
Pashankar F, Singhal V, Akabogu I, Gatti RA, Goldman FD. Intact T cell responses in ataxia telangiectasia. Clinical Immunology (Orlando, Fla.). 120: 156-62. PMID 16762595 DOI: 10.1016/J.Clim.2006.04.568 |
0.348 |
|
| 2006 |
Goldstine JV, Nahas S, Gamo K, Gartler SM, Hansen RS, Roelfsema JH, Gatti RA, Marahrens Y. Constitutive phosphorylation of ATM in lymphoblastoid cell lines from patients with ICF syndrome without downstream kinase activity. Dna Repair. 5: 432-43. PMID 16426903 DOI: 10.1016/J.Dnarep.2005.12.002 |
0.692 |
|
| 2005 |
Mitui M, Bernatowska E, Pietrucha B, Piotrowska-Jastrzebska J, Eng L, Nahas S, Teraoka S, Sholty G, Purayidom A, Concannon P, Gatti RA. ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia. Annals of Human Genetics. 69: 657-64. PMID 16266405 DOI: 10.1111/J.1529-8817.2005.00199.X |
0.73 |
|
| 2005 |
Ouyang Y, Salstrom J, Diaz-Perez S, Nahas S, Matsuno Y, Dawson D, Teitell MA, Horvath S, Riggs AD, Gatti RA, Marahrens Y. Inhibition of Atm and/or Atr disrupts gene silencing on the inactive X chromosome. Biochemical and Biophysical Research Communications. 337: 875-80. PMID 16213462 DOI: 10.1016/J.Bbrc.2005.09.122 |
0.681 |
|
| 2005 |
Birrell GW, Kneebone K, Nefedov M, Nefedova E, Jartsev MN, Mitsui M, Gatti RA, Lavin MF. ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia. Human Mutation. 25: 593. PMID 15880721 DOI: 10.1002/Humu.9341 |
0.435 |
|
| 2005 |
Babaei M, Mitui M, Olson ER, Gatti RA. ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype. Human Genetics. 117: 101-6. PMID 15843990 DOI: 10.1007/s00439-005-1254-7 |
0.341 |
|
| 2005 |
Nahas SA, Lai CH, Gatti RA. Post-irradiation phosphorylation of structural maintenance chromosome 1 (SMC1) is independent of the Fanconi protein pathway. International Journal of Radiation Oncology, Biology, Physics. 61: 1167-72. PMID 15752898 DOI: 10.1016/J.Ijrobp.2004.11.023 |
0.744 |
|
| 2005 |
Pan-Hammarström Q, Jones AM, Lähdesmäki A, Zhou W, Gatti RA, Hammarström L, Gennery AR, Ehrenstein MR. Impact of DNA ligase IV on nonhomologous end joining pathways during class switch recombination in human cells. The Journal of Experimental Medicine. 201: 189-94. PMID 15657289 DOI: 10.1084/Jem.20040772 |
0.331 |
|
| 2005 |
Coutinho G, Xie J, Du L, Brusco A, Krainer AR, Gatti RA. Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28a. Human Mutation. 25: 118-24. PMID 15643608 DOI: 10.1002/Humu.20170 |
0.355 |
|
| 2005 |
Aarøe J, Gatti R, Børresen-Dale A, Rødningen O. Gene expression studies in radiation-sensitive cell lines Breast Cancer Research. 7: 1-1. DOI: 10.1186/Bcr1152 |
0.301 |
|
| 2005 |
Gatti R, Concannon P. ATM mutations associated with breast cancer Breast Cancer Research. 7: 1-2. DOI: 10.1186/Bcr1048 |
0.396 |
|
| 2004 |
Lai CH, Chun HH, Nahas SA, Mitui M, Gamo KM, Du L, Gatti RA. Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons. Proceedings of the National Academy of Sciences of the United States of America. 101: 15676-81. PMID 15498871 DOI: 10.1073/Pnas.0405155101 |
0.811 |
|
| 2004 |
Butch AW, Chun HH, Nahas SA, Gatti RA. Immunoassay to measure ataxia-telangiectasia mutated protein in cellular lysates. Clinical Chemistry. 50: 2302-8. PMID 15486025 DOI: 10.1373/Clinchem.2004.039461 |
0.774 |
|
| 2004 |
Chun HH, Cary RB, Lansigan F, Whitelegge J, Rawlings DJ, Gatti RA. ATM protein purified from vaccinia virus expression system: DNA binding requirements for kinase activation. Biochemical and Biophysical Research Communications. 322: 74-81. PMID 15313175 DOI: 10.1016/J.Bbrc.2004.07.085 |
0.581 |
|
| 2004 |
Chun HH, Gatti RA. Ataxia-telangiectasia, an evolving phenotype. Dna Repair. 3: 1187-96. PMID 15279807 DOI: 10.1016/J.Dnarep.2004.04.010 |
0.657 |
|
| 2004 |
Bernstein JL, Langholz B, Haile RW, Bernstein L, Thomas DC, Stovall M, Malone KE, Lynch CF, Olsen JH, Anton-Culver H, Shore RE, Boice JD, Berkowitz GS, Gatti RA, Teitelbaum SL, et al. Study design: evaluating gene-environment interactions in the etiology of breast cancer - the WECARE study. Breast Cancer Research : Bcr. 6: R199-214. PMID 15084244 DOI: 10.1186/Bcr771 |
0.353 |
|
| 2004 |
Gueven N, Becherel OJ, Kijas AW, Chen P, Howe O, Rudolpg JH, Gatti R, Date H, Onodera O, Taucher-Scholz G, Lavin MF. Aprataxin, a novel protein that protects against genotoxic stress Human Molecular Genetics. 13: 1081-1093. PMID 15044383 DOI: 10.1093/Hmg/Ddh122 |
0.402 |
|
| 2004 |
Coutinho G, Mitui M, Campbell C, Costa Carvalho BT, Nahas S, Sun X, Huo Y, Lai CH, Thorstenson Y, Tanouye R, Raskin S, Kim CA, Llerena J, Gatti RA. Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations. American Journal of Medical Genetics. Part A. 126: 33-40. PMID 15039971 DOI: 10.1002/Ajmg.A.20570 |
0.78 |
|
| 2004 |
Eng L, Coutinho G, Nahas S, Yeo G, Tanouye R, Babaei M, Dörk T, Burge C, Gatti RA. Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths. Human Mutation. 23: 67-76. PMID 14695534 DOI: 10.1002/Humu.10295 |
0.709 |
|
| 2003 |
Chun HH, Sun X, Nahas SA, Teraoka S, Lai CH, Concannon P, Gatti RA. Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression. Molecular Genetics and Metabolism. 80: 437-43. PMID 14654357 DOI: 10.1016/J.Ymgme.2003.09.008 |
0.805 |
|
| 2003 |
Perlman S, Becker-Catania S, Gatti RA. Ataxia-telangiectasia: diagnosis and treatment. Seminars in Pediatric Neurology. 10: 173-82. PMID 14653405 DOI: 10.1016/S1071-9091(03)00026-3 |
0.786 |
|
| 2003 |
Bernstein JL, Bernstein L, Thompson WD, Lynch CF, Malone KE, Teitelbaum SL, Olsen JH, Anton-Culver H, Boice JD, Rosenstein BS, Børresen-Dale AL, Gatti RA, Concannon P, Haile RW. ATM variants 7271T>G and IVS10-6T>G among women with unilateral and bilateral breast cancer. British Journal of Cancer. 89: 1513-6. PMID 14562025 DOI: 10.1038/Sj.Bjc.6601289 |
0.346 |
|
| 2003 |
Mitui M, Campbell C, Coutinho G, Sun X, Lai CH, Thorstenson Y, Castellvi-Bel S, Fernandez L, Monros E, Carvalho BT, Porras O, Fontan G, Gatti RA. Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. Human Mutation. 22: 43-50. PMID 12815592 DOI: 10.1002/Humu.10232 |
0.618 |
|
| 2003 |
Bernstein JL, Teraoka S, Haile RW, Børresen-Dale AL, Rosenstein BS, Gatti RA, Diep AT, Jansen L, Atencio DP, Olsen JH, Bernstein L, Teitelbaum SL, Thompson WD, Concannon P. Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer. Human Mutation. 21: 542-50. PMID 12673797 DOI: 10.1002/Humu.10206 |
0.304 |
|
| 2003 |
Pan-Hammarström Q, Dai S, Zhao Y, van Dijk-Härd IF, Gatti RA, Børresen-Dale AL, Hammarström L. ATM is not required in somatic hypermutation of VH, but is involved in the introduction of mutations in the switch mu region. Journal of Immunology (Baltimore, Md. : 1950). 170: 3707-16. PMID 12646636 DOI: 10.4049/Jimmunol.170.7.3707 |
0.406 |
|
| 2003 |
Bakhshi S, Cerosaletti KM, Concannon P, Bawle EV, Fontanesi J, Gatti RA, Bhambhani K. Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome. Journal of Pediatric Hematology/Oncology. 25: 248-51. PMID 12621246 DOI: 10.1097/00043426-200303000-00013 |
0.349 |
|
| 2003 |
Buzin CH, Gatti RA, Nguyen VQ, Wen CY, Mitui M, Sanal O, Chen JS, Nozari G, Mengos A, Li X, Fujimura F, Sommer SS. Comprehensive scanning of the ATM gene with DOVAM-S. Human Mutation. 21: 123-31. PMID 12552559 DOI: 10.1002/Humu.10158 |
0.422 |
|
| 2003 |
Campbell C, Mitui M, Eng L, Coutinho G, Thorstenson Y, Gatti RA. ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects. Human Mutation. 21: 80-5. PMID 12497634 DOI: 10.1002/Humu.10156 |
0.412 |
|
| 2002 |
Sun X, Becker-Catania SG, Chun HH, Hwang MJ, Huo Y, Wang Z, Mitui M, Sanal O, Chessa L, Crandall B, Gatti RA. Early diagnosis of ataxia-telangiectasia using radiosensitivity testing. The Journal of Pediatrics. 140: 724-31. PMID 12072877 DOI: 10.1067/Mpd.2002.123879 |
0.772 |
|
| 2002 |
Resnick IB, Kondratenko I, Togoev O, Vasserman N, Shagina I, Evgrafov O, Tverskaya S, Cerosaletti KM, Gatti RA, Concannon P. Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families. The Journal of Pediatrics. 140: 355-61. PMID 11953735 DOI: 10.1067/Mpd.2002.122724 |
0.357 |
|
| 2002 |
Chun HH, Castellví-Bel S, Wang Z, Nagourney RA, Plaeger S, Becker-Catania SG, Naeim F, Sparkes RS, Gatti RA. TCL-1, MTCP-1 and TML-1 gene expression profile in non-leukemic clonal proliferations associated with ataxia-telangiectasia. International Journal of Cancer. 97: 726-31. PMID 11857346 DOI: 10.1002/Ijc.10102 |
0.791 |
|
| 2001 |
O'Driscoll M, Cerosaletti KM, Girard PM, Dai Y, Stumm M, Kysela B, Hirsch B, Gennery A, Palmer SE, Seidel J, Gatti RA, Varon R, Oettinger MA, Neitzel H, Jeggo PA, et al. DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Molecular Cell. 8: 1175-85. PMID 11779494 DOI: 10.1016/S1097-2765(01)00408-7 |
0.429 |
|
| 2001 |
Becker-Catania SG, Gatti RA. Ataxia-telangiectasia. Advances in Experimental Medicine and Biology. 495: 191-8. PMID 11774566 |
0.761 |
|
| 2001 |
Gatti RA. The inherited basis of human radiosensitivity Acta Oncologica. 40: 702-711. PMID 11765064 DOI: 10.1080/02841860152619115 |
0.361 |
|
| 2001 |
Tangsinmankong N, Wayne AS, Howenstine MS, Washington KR, Langston C, Gatti RA, Good RA, Nelson RP. Lymphocytic interstitial pneumonitis, elevated IgM concentration, and hepatosplenomegaly in ataxia-telangiectasia. The Journal of Pediatrics. 138: 939-41. PMID 11391347 DOI: 10.1067/Mpd.2001.113356 |
0.364 |
|
| 2001 |
Gatti RA, Becker-Catania S, Chun HH, Sun X, Mitui M, Lai CH, Khanlou N, Babaei M, Cheng R, Clark C, Huo Y, Udar NC, Iyer RK. The pathogenesis of ataxia-telangiectasia. Learning from a Rosetta Stone. Clinical Reviews in Allergy & Immunology. 20: 87-108. PMID 11269230 DOI: 10.1385/Criai:20:1:87 |
0.802 |
|
| 2000 |
Yeo TC, Xia D, Hassouneh S, Yang XO, Sabath DE, Sperling K, Gatti RA, Concannon P, Willerford DM. V(D)J rearrangement in Nijmegen breakage syndrome. Molecular Immunology. 37: 1131-1139. PMID 11451418 DOI: 10.1016/S0161-5890(01)00026-8 |
0.402 |
|
| 2000 |
Becker-Catania SG, Chen G, Hwang MJ, Wang Z, Sun X, Sanal O, Bernatowska-Matuszkiewicz E, Chessa L, Lee EY, Gatti RA. Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. Molecular Genetics and Metabolism. 70: 122-33. PMID 10873394 DOI: 10.1006/Mgme.2000.2998 |
0.8 |
|
| 2000 |
Zhao S, Weng YC, Yuan SS, Lin YT, Hsu HC, Lin SC, Gerbino E, Song MH, Zdzienicka MZ, Gatti RA, Shay JW, Ziv Y, Shiloh Y, Lee EY. Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products. Nature. 405: 473-7. PMID 10839544 DOI: 10.1038/35013083 |
0.455 |
|
| 2000 |
Rivero-Carmena M, Porras O, Pelaez B, Pacheco-Castro A, Gatti RA, Regueiro JR. Membrane and transmembrane signaling in Herpesvirus saimiri-transformed human CD4+ and CD8+ T lymphocytes is ATM-independent International Immunology. 12: 927-935. PMID 10837420 DOI: 10.1093/Intimm/12.6.927 |
0.337 |
|
| 2000 |
Gatei M, Young D, Cerosaletti KM, Desai-Mehta A, Spring K, Kozlov S, Lavin MF, Gatti RA, Concannon P, Khanna K. ATM-dependent phosphorylation of nibrin in response to radiation exposure. Nature Genetics. 25: 115-9. PMID 10802669 DOI: 10.1038/75508 |
0.476 |
|
| 2000 |
Buzin CH, Wen CY, Nguyen VQ, Nozari G, Mengos A, Li X, Chen JS, Liu Q, Gatti RA, Fujimura FK, Sommer SS. Scanning by DOVAM-S detects all unique sequence changes in blinded analyses: evidence that the scanning conditions are generic. Biotechniques. 28: 746-50, 752-3. PMID 10769754 DOI: 10.2144/00284Rr04 |
0.355 |
|
| 2000 |
Regueiro JR, Porras O, Lavin M, Gatti RA. ATAXIA-TELANGIECTASIA : A Primary Immunodeficiency Revisited Immunology and Allergy Clinics of North America. 20: 177-206. DOI: 10.1016/S0889-8561(05)70141-7 |
0.386 |
|
| 1999 |
Gatti RA, Tward A, Concannon P. Cancer risk in ATM heterozygotes: A model of phenotypic and mechanistic differences between missense and truncating mutations Molecular Genetics and Metabolism. 68: 419-423. PMID 10607471 DOI: 10.1006/Mgme.1999.2942 |
0.42 |
|
| 1999 |
Udar NS, Xu S, Bay JO, Dandekar SS, Patel N, Chen X, Liang TY, Uhrhammer N, Klisak I, Shizuya H, Yang H, Samara G, Nelissen J, Sawicki M, Concannon P, ... Gatti RA, et al. Physical map of the region surrounding the ataxia-telangiectasia gene on human chromosome 11q22-23 Neuropediatrics. 30: 176-180. PMID 10569208 DOI: 10.1055/S-2007-973487 |
0.345 |
|
| 1999 |
Fanos JH, Gatti RA. A mark on the arm: Myths of carrier status in Sibs of individuals with ataxia-telangiectasia American Journal of Medical Genetics. 86: 338-346. PMID 10494090 DOI: 10.1002/(Sici)1096-8628(19991008)86:4<338::Aid-Ajmg8>3.0.Co;2-F |
0.34 |
|
| 1999 |
Bebb DG, Yu Z, Chen J, Telatar M, Gelmon K, Phillips N, Gatti RA, Glickman BW. Absence of mutations in the ATM gene in forty-seven cases of sporadic breast cancer. British Journal of Cancer. 80: 1979-81. PMID 10471049 DOI: 10.1038/Sj.Bjc.6690630 |
0.317 |
|
| 1999 |
Castellví-Bel S, Sheikhavandi S, Telatar M, Tai LQ, Hwang M, Wang Z, Yang Z, Cheng R, Gatti RA. New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy. Human Mutation. 14: 156-162. PMID 10425038 DOI: 10.1002/(Sici)1098-1004(1999)14:2<156::Aid-Humu7>3.0.Co;2-E |
0.43 |
|
| 1999 |
Teraoka SN, Telatar M, Becker-Catania S, Liang T, Onengüt S, Tolun A, Chessa L, Sanal O, Bernatowska E, Gatti RA, Concannon P. Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. American Journal of Human Genetics. 64: 1617-31. PMID 10330348 DOI: 10.1086/302418 |
0.791 |
|
| 1998 |
Park SH, Becker-Catania S, Gatti RA, Crandall BF, Emelin JK, Vinters HV. Congenital olivopontocerebellar atrophy: report of two siblings with paleo- and neocerebellar atrophy. Acta Neuropathologica. 96: 315-21. PMID 9796994 DOI: 10.1007/S004010050900 |
0.749 |
|
| 1998 |
Laake K, Telatar M, Geitvik GA, Hansen RØ, Heiberg A, Andresen AM, Gatti R, Børresen-Dale AL. Identical mutation in 55% of the ATM alleles in 11 Norwegian AT families: evidence for a founder effect. European Journal of Human Genetics. 6: 235-244. PMID 9781027 DOI: 10.1038/Sj.Ejhg.5200181 |
0.409 |
|
| 1998 |
Telatar M, Wang S, Castellvi-Bel S, Tai LQ, Sheikhavandi S, Regueiro JR, Porras O, Gatti RA. A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia. Molecular Genetics and Metabolism. 64: 36-43. PMID 9682216 DOI: 10.1006/Mgme.1998.2693 |
0.432 |
|
| 1998 |
Cerosaletti KM, Lange E, Stringham HM, Weemaes CMR, Smeets D, Sölder B, Belohradsky BH, Taylor AMR, Karnes P, Elliott A, Komatsu K, Gatti RA, Boehnke M, Concannon P. Fine localization of the Nijmegen breakage syndrome gene to 8q21: Evidence for a common founder haplotype American Journal of Human Genetics. 63: 125-134. PMID 9634525 DOI: 10.1086/301927 |
0.329 |
|
| 1998 |
Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanová E, Cooper PR, Nowak NJ, Stumm M, Weemaes CMR, Gatti RA, Wilson RK, Digweed M, et al. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome Cell. 93: 467-476. PMID 9590180 DOI: 10.1016/S0092-8674(00)81174-5 |
0.451 |
|
| 1998 |
Gilad S, Chessa L, Khosravi R, Russell P, Galanty Y, Piane M, Gatti RA, Jorgensen TJ, Shiloh Y, Bar-Shira A. Genotype-phenotype relationships in ataxia-telangiectasia and variants. American Journal of Human Genetics. 62: 551-61. PMID 9497252 DOI: 10.1086/301755 |
0.497 |
|
| 1998 |
Telatar M, Teraoka S, Wang Z, Chun HH, Liang T, Castellvi-Bel S, Udar N, Borresen-Dale AL, Chessa L, Bernatowska-Matuszkiewicz E, Porras O, Watanabe M, Junker A, Concannon P, Gatti RA. Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. American Journal of Human Genetics. 62: 86-97. PMID 9443866 DOI: 10.1086/301673 |
0.63 |
|
| 1997 |
Chen X, Yang L, Udar N, Liang T, Uhrhammer N, Xu S, Bay JO, Wang Z, Dandakar S, Chiplunkar S, Klisak I, Telatar M, Yang H, Concannon P, Gatti RA. CAND3: A ubiquitously expressed gene immediately adjacent and in opposite transcriptional orientation to the ATM gene at 1lq23.1. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 8: 129-33. PMID 27518307 DOI: 10.1007/S003359900371 |
0.357 |
|
| 1997 |
Geschwind DH, Perlman S, Grody WW, Milhan Telatar P, Laura Montermini P, Pandolfo M, Gatti RA. Friedreich's ataxia GAA repeat expansion in patients with recessive or sporadic ataxia Neurology. 49: 1004-1009. PMID 9339680 DOI: 10.1212/Wnl.49.4.1004 |
0.303 |
|
| 1997 |
Concannon P, Gatti RA. Diversity of ATM gene mutations detected in patients with ataxia- telangiectasia Human Mutation. 10: 100-107. PMID 9259193 DOI: 10.1002/(Sici)1098-1004(1997)10:2<100::Aid-Humu2>3.0.Co;2-O |
0.435 |
|
| 1997 |
Watters D, Khanna KK, Beamish H, Birrell G, Spring K, Kedar P, Gatei M, Stenzel D, Hobson K, Kozlov S, Zhang N, Farrell A, Ramsay J, Gatti R, Lavin M. Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms. Oncogene. 14: 1911-21. PMID 9150358 DOI: 10.1038/Sj.Onc.1201037 |
0.452 |
|
| 1997 |
Pérez-Vera P, Angel AG, Molina B, Gómez L, Frías S, Gatti RA, Carnevale A. Chromosome instability with bleomycin and X-ray hypersensitivity in a boy with Nijmegen breakage syndrome. American Journal of Medical Genetics. 70: 24-27. PMID 9129736 DOI: 10.1002/(Sici)1096-8628(19970502)70:1<24::Aid-Ajmg5>3.0.Co;2-R |
0.345 |
|
| 1997 |
Khanna KK, Yan J, Watters D, Hobson K, Beamish H, Spring K, Shiloh Y, Gatti RA, Lavin MF. Defective signaling through the B cell antigen receptor in Epstein-Barr virus-transformed ataxia-telangiectasia cells. The Journal of Biological Chemistry. 272: 9489-95. PMID 9083089 DOI: 10.1074/Jbc.272.14.9489 |
0.373 |
|
| 1997 |
Telatar M, Concannon PK, Gatti RA. Genetic testing for ataxia-telangiectasia. • 634 Pediatric Research. 41: 108-108. DOI: 10.1203/00006450-199704001-00654 |
0.428 |
|
| 1996 |
Liang T, Udar N, Gatti RA. Designing positive internal controls for mutation detection gels Biotechniques. 21: 1036-1038. PMID 8969831 DOI: 10.2144/96216Bm16 |
0.307 |
|
| 1996 |
Gilad S, Khosravi R, Shkedy D, Uziel T, Ziv Y, Savitsky K, Rotman G, Smith S, Chessa L, Jorgensen TJ, Harnik R, Frydman M, Sanal O, Portnoi S, Goldwicz Z, ... ... Gatti RA, et al. Predominance of null mutations in ataxia-telangiectasia. Human Molecular Genetics. 5: 433-9. PMID 8845835 DOI: 10.1093/Hmg/5.4.433 |
0.477 |
|
| 1996 |
Wright J, Teraoka S, Onengut S, Tolun A, Gatti RA, Ochs HD, Concannon P. A high frequency of distinct ATM gene mutations in ataxia- telangiectasia American Journal of Human Genetics. 59: 839-846. PMID 8808599 |
0.316 |
|
| 1996 |
Lin Q, Rohrer J, Allen RC, Larché M, Greene JM, Shigeoka AO, Gatti RA, Derauf DC, Belmont JW, Conley ME. A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. The Journal of Clinical Investigation. 97: 196-201. PMID 8550833 DOI: 10.1172/Jci118389 |
0.416 |
|
| 1994 |
Hong JH, Gatti RA, Huo YK, Chiang CS, McBride WH. G2/M-phase arrest and release in ataxia telangiectasia and normal cells after exposure to ionizing radiation Radiation Research. 140: 17-23. PMID 7938450 DOI: 10.2307/3578563 |
0.3 |
|
| 1994 |
Gatti RA, Lange E, Rotman G, Chen X, Uhrhammer N, Liang T, Chiplunkar S, Yang L, Udar N, Dandekar S, Sheikhavandi S, Wang Z, Yang HM, Polikow J, Elashoff M, et al. Genetic haplotyping of ataxia-telangiectasia families localizes the major gene to an ∼ 850 kb region on chromosome 11q23.1 International Journal of Radiation Biology. 66: S57-S62. PMID 7836853 DOI: 10.1080/09553009414551861 |
0.332 |
|
| 1992 |
Ziv Y, Frydman M, Lange E, Zelnik N, Rotman G, Julier C, Jaspers NG, Dagan Y, Abeliovicz D, Dar H, Borochowitz Z, Lathrop M, Gatti RA, Shiloh Y. Ataxia-telangiectasia: linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome. Human Genetics. 88: 619-26. PMID 1551665 DOI: 10.1007/Bf02265285 |
0.375 |
|
| 1991 |
Gatti RA. Localizing the genes for ataxia-teleangiectasia: A human model for inherited cancer susceptibility Advances in Cancer Research. 56: 77-104. PMID 2028843 DOI: 10.1016/S0065-230X(08)60478-9 |
0.362 |
|
| 1991 |
Kojis TL, Gatti RA, Sparkes RS. The cytogenetics of ataxia telangiectasia Cancer Genetics and Cytogenetics. 56: 143-156. PMID 1756458 DOI: 10.1016/0165-4608(91)90164-P |
0.4 |
|
| 1991 |
Gatti RA. Speculations on the ataxia-telangiectasia defect Clinical Immunology and Immunopathology. 61. PMID 1718644 DOI: 10.1016/S0090-1229(05)80032-7 |
0.434 |
|
| 1991 |
Weeks DE, Paterson MC, Lange K, Andrais B, Davis RC, Yoder F, Gatti RA. Assessment of Chronic γ Radiosensitivity as an in Vitro Assay for Heterozygote Identification of Ataxia-Telangiectasia Radiation Research. 128: 90. DOI: 10.2307/3578071 |
0.349 |
|
| 1991 |
GATTI RA, BODER E, VINTERS HV, SPARKES RS, NORMAN A, LANGE K. Ataxia-Telangiectasia Medicine. 70: 99-117. DOI: 10.1097/00005792-199103000-00003 |
0.376 |
|
| 1990 |
Charmley P, Chao A, Concannon P, Hood L, Gatti RA. Haplotyping the human T-cell receptor β-chain gene complex by use of restriction fragment length polymorphisms Proceedings of the National Academy of Sciences of the United States of America. 87: 4823-4827. PMID 1972281 DOI: 10.1073/Pnas.87.12.4823 |
0.316 |
|
| 1989 |
Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, Ersoy F, Foroud T, Jaspers NG, Lange K. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature. 336: 577-80. PMID 3200306 DOI: 10.1038/336577A0 |
0.38 |
|
| 1989 |
Kojis TL, Schreck RR, Gatti RA, Sparkes RS. Tissue specificity of chromosomal rearrangements in ataxia-telangiectasia Human Genetics. 83: 347-352. PMID 2807275 DOI: 10.1007/Bf00291379 |
0.322 |
|
| 1989 |
Russo G, Isobe M, Gatti R, Finan J, Batuman O, Huebner K, Nowell PC, Croce CM. Molecular analysis of a t(14;14) translocation in leukemic T-cells of an ataxia telangiectasia patient. Proceedings of the National Academy of Sciences of the United States of America. 86: 602-6. PMID 2783489 DOI: 10.1073/Pnas.86.2.602 |
0.34 |
|
| 1989 |
Rosin MP, Ochs HD, Gatti RA, Boder E. Heterogeneity of chromosomal breakage levels in epithelial tissue of ataxia-telangiectasia homozygotes and heterozygotes Human Genetics. 83: 133-138. PMID 2777252 DOI: 10.1007/Bf00286705 |
0.343 |
|
| 1989 |
Charmley P, Sanal O, Wei S, Chou A, Terhorst C, Gatti RA. Human T-cell receptor CD3-ε (CD3D) / TaqI DNA polymorphism Nucleic Acids Research. 17: 2374. PMID 2565030 DOI: 10.1093/Nar/17.6.2374 |
0.319 |
|
| 1989 |
Charmley P, Wei S, Sanal O, Malhotra U, Concannon P, Terhorst C, Gatti RA. Human T-cell receptor cd3-γ (CD3G) / MspI DNA polymorphism Nucleic Acids Research. 17: 2372. PMID 2468133 DOI: 10.1093/Nar/17.6.2372 |
0.32 |
|
| 1987 |
Chou CC, Davis RC, Fuller ML, Slovin JP, Wong A, Wright J, Kania S, Shaked R, Gatti RA, Salser WA. Gamma-actin: unusual mRNA 3'-untranslated sequence conservation and amino acid substitutions that may be cancer related. Proceedings of the National Academy of Sciences of the United States of America. 84: 2575-9. PMID 3472224 DOI: 10.1073/Pnas.84.9.2575 |
0.343 |
|
| 1987 |
Concannon P, Gatti RA, Hood LE. Human T cell receptor V beta gene polymorphism. The Journal of Experimental Medicine. 165: 1130-40. PMID 2951480 DOI: 10.1084/Jem.165.4.1130 |
0.309 |
|
| 1984 |
Gatti R. Immune dysfunction is one of many defects. Immunology Today. 5: 121-123. PMID 25289547 DOI: 10.1016/0167-5699(84)90226-3 |
0.346 |
|
| 1984 |
Wallace DJ, Medici MA, Nichols S, Klinenberg JR, Brck M, Gatti R, Goidfinger D. Plasmapheresis versus lymphoplasmapheresis in rheumatoid arthritis: immunologic comparisons and literature review. Journal of Clinical Apheresis. 2: 184-189. PMID 6536669 DOI: 10.1002/Jca.2920020207 |
0.306 |
|
| 1982 |
Gatti RA, Bick M, Tam CF, Medici MA, Oxelius VA, Holland M, Goldstein AL, Boder E. Ataxia-Telangiectasia: a multiparameter analysis of eight families. Clinical Immunology and Immunopathology. 23: 501-16. PMID 6213343 DOI: 10.1016/0090-1229(82)90134-9 |
0.365 |
|
| 1981 |
van Scoy-Mosher MB, Bick M, Capostagno V, Walford RL, Gatti RA. A clinicopathologic analysis of chronic lymphocytic leukemia American Journal of Hematology. 10: 9-18. PMID 6973272 DOI: 10.1002/Ajh.2830100103 |
0.319 |
|
| 1980 |
Hodge SE, Berkel AI, Gatti RA, Boder E, Spence MA. Ataxia-telangiectasia and xeroderma pigmentosum: No evidence of linkage to HLA Tissue Antigens. 15: 313-317. PMID 7466773 DOI: 10.1111/J.1399-0039.1980.Tb00922.X |
0.347 |
|
| 1980 |
Kempner DH, Leibold W, Gatti RA. T-cell regulation of B-lymphoblastoid cell line function Cellular Immunology. 55: 32-41. PMID 6253086 DOI: 10.1016/0008-8749(80)90134-3 |
0.321 |
|
| 1979 |
Naeim F, Capostagno VJ, Johnson CE, Lehrer R, Gatti RA. Sézary syndrome. Tartrate-resistant acid phosphatase in the neoplastic cells. American Journal of Clinical Pathology. 71: 528-33. PMID 453071 DOI: 10.1093/Ajcp/71.5.528 |
0.302 |
|
| 1978 |
Naeim F, Gatti RA, Johnson CE, Gossett T, Walford RL. "Hairy cell" leukemia. A heterogeneous chronic lymphoproliferative disorder The American Journal of Medicine. 65: 479-487. PMID 82403 DOI: 10.1016/0002-9343(78)90774-X |
0.329 |
|
| 1973 |
Gatti RA, Gershanik JJ, Levkoff AH, Wertelecki W, Good RA. Combined system immunodeficiency with Digeorge syndrome and dissociation of PHA-MLC responses Advances in Experimental Medicine and Biology. 29: 327-336. PMID 4277412 DOI: 10.1007/978-1-4615-9017-0_48 |
0.336 |
|
| 1969 |
Cole RB, D'sousa A, Good RA, Gatti RA, Hoyer JR. Lymphopenic Agammaglobulinemia (Swiss Type) in Chicago: Autosomal Recessive Form American Journal of Diseases of Children. 118: 748-758. PMID 5348373 DOI: 10.1001/Archpedi.1969.02100040750012 |
0.303 |
|
| Show low-probability matches. |