Richard Anthony Gatti, M.D.

Laboratory Address:
MRL 4609

Work Address:
MRL 4736
CAMPUS - 173216

Professor, Pathology and Laboratory Medicine
Professor In-Residence, Human Genetics
Member, Basic/Translational Research, Jonsson Comprehensive Cancer Center, Brain Research Institute, JCCC Cancer and Stem Cell Biology Program Area, Physics & Biology in Medicine GPB Home Area
Faculty, Cellular and Molecular Pathology PhD Program
Research Interests
Ataxia-telangiectasia (A-T) is a progressive neurological disorder of childhood, associated with increased cancer risk, immunodeficiency, radiosensitivity, and cell cycle defects. In 1988, we localized the gene for A-T to chromosome 11q22-23 by linkage analyses. To fine map the region, we formed an international consortium of over 200 families and localized the gene to within 500 kb by classical linkage analysis. In 1995, the ATM (A-T mutated) gene was cloned and found to be a serine-threonine kinase that plays a hierarchical role in cell signalling and DNA repair. We are presently identifying and characterizing how ATM mutations cause disease in A-T patients. For diagnostic services, we perform immunoblotting and assay radiosensitivity; both require that a cell line be established on each incoming blood sample. This provides a renewal sample for many additional lab studies. Other projects in the lab: 1) analyzing DNA repair and cell signaling proteins on a panel of 40 radiosensitive cell lines from non-AT patients, 2) testing the function of ATM DNA variants in a mutagenesis assay that involves making stable transfections, 3) constructing minigenes for detect aberrant splicing within the many exons in the ATM gene, 4) producing recombinant ATM in a vaccinia expression system, for structural studies of ATM, and 5) aminoglycoside-induced expression of ATM protein as a potential therapeutic approach. This might be useful for about 15% of A-T patients worldwide. Our long-term goals are gene-based therapy and improved diagnostic testing, for patients and carriers. Carriers, like patients, are at an increased risk of cancer.

Gatti is interested in translational research, including both the development of diagnostic assays and finding new drugs to treat genetic disorders. His research focuses on DNA repair disorders, using ataxia-telangiectsia (A-T) as the primary working model. The lab collaborates with investigators in many other countries. Ongoing projects include: 1) identification of genes that cause hypersensitivity to ionizing radiation, 2) identification of chemicals that correct the effects of specific types of mutations in the ATM gene, 3) better diagnostic assays for A-T, and 4) identification of chemicals that might be useful in combating a "dirty bomb" attack in a major city. The Gatti lab was the first at UCLA to localize a gene to a particular chromosome by linkage analysis (1988). This was the gene for A-T. An international consortium was then formed to fine map the region of interest on chromosome 11q22-23. Seven years later the consortium successfully cloned the ATM gene from within this region. The ATM protein is a serine/threonine kinase that phosphorylates over 700 substrates, impacting primarily on cell cycle checkpoints and DNA repair signaling cascades. These findings have accounted for the pleiotropic A-T syndrome, which includes cancer susceptibility, radiation sensitivity, immunodeficiency, a progressive loss of balance, specific chromosome translocations, and perhaps a resistance to infection by HIV. The lab identifies ~30 new A-T patients, worldwide, per year, and has characterized the majority of the ~500 unique ATM mutations ( Individual ongoing projects are now trying to characterize drugs that correct the expression of full length, functional ATM protein in cells with nonsense-type mutations and in others that have splicing mutations. These involve high throughput screening of 10,000s of chemicals, as well as collaborations with pharma companies and with the NIH for Neurological Diseases and Stroke (NINDS) on other compounds. This lab has the largest repository of cell lines from A-T patients, an important resource for these ongoing studies. Recent publications include: Lange et al. Localization of an ataxia-telangiectasia gene to a ~500 kb interval on chromosome 11q23.1: linkage analysis of 176 families in an international consortium. Amer J Hum Genet 57: 112-119, 1995. Savitsky et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268: 1749-1753, 1995. [Accompanying Research News article by R. Nowak: Discovery of AT gene sparks biomedical research bonanza. Science 268: 1700-1701, 1995.] Pan-Hammarstrom et al. ATM is not required in somatic hypermutation of VH, but is involved in the introduction of mutations in the switch u region. J. Immunol. 170:3707-3716, 2003 Lai et al. Correction of ATM gene function by aminoglycoside-induced readthrough of premature termination codons. Proc Natl Acad Sci.101: 15676-81, 2004. Birrell et al. ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia. Hum Mutation 25: 593m 2005. Nahas et al. Post-irradiation phosphorylation of structural maintenance chromosome 1 (SMC1) is independent of the Fanconi protein pathway. Intl J Rad Oncol Biol. Physics 61: 1167-72, 2005. Cavalieri et al. ATM mutations in Italian families with ataxia-telangiectasia include two distinct large genomic deletiions. Hum Mutation 27:1061-71, 2006 Du L, Pollard J, Gatti RA. Correction of prototypic ATM splicing mutation and aberrant ATM function with antisense morpholino oligonucleotides. PNAS 104: 6007-6012, 2007.


A selected list of publications:

Du Liutao, Jung Michael E, Damoiseaux Robert, Completo Gladys, Fike Francesca, Ku Jin-Mo, Nahas Shareef, Piao Cijing, Hu Hailiang, Gatti Richard A   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, 2013; 21(9): 1653-60.
Martin Nathan T, Nakamura Kotoka, Davies Robert, Nahas Shareef A, Brown Christina, Tunuguntla Rashmi, Gatti Richard A, Hu Hailiang   ATM-dependent MiR-335 targets CtIP and modulates the DNA damage response PLoS genetics, 2013; 9(5): e1003505.
Mansour Wael Y, Bogdanova Natalia V, Kasten-Pisula Ulla, Rieckmann Thorsten, Köcher Sabrina, Borgmann Kerstin, Baumann Michael, Krause Mechtild, Petersen Cordula, Hu Hailiang, Gatti Richard A, Dikomey Ekkehard, Dörk Thilo, Dahm-Daphi Jochen   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, 2013; 106(1): 147-54.
Cavalieri Simona, Pozzi Elisa, Gatti Richard A, Brusco Alfredo   Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO) European journal of human genetics : EJHG, 2013; 21(7): 774-8.
Ambrose Mark, Gatti Richard A   Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions Blood, 2013; 121(20): 4036-45.
Lee Peiyee, Martin Nathan T, Nakamura Kotoka, Azghadi Soheila, Amiri Mandana, Ben-David Uri, Perlman Susan, Gatti Richard A, Hu Hailiang, Lowry William E   SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs Nature communications, 2013; 4(5): 1824.
Li Xinmin, Zhou Jian, Nahas Shareef A, Wan Haolei, Hu Hailiang, Gatti Richard A   Common copy number variations in fifty radiosensitive cell lines Genomics, 2012; 99(2): 96-100.
Nahas Shareef A, Davies Robert, Fike Francesca, Nakamura Kotoka, Du Liutao, Kayali Refik, Martin Nathan T, Concannon Patrick, Gatti Richard A   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; 177(2): 176-86.
Davies Robert C, Pettijohn Kelly, Fike Francesca, Wang Jiexi, Nahas Shareef A, Tunuguntla Rashmi, Hu Hailiang, Gatti Richard A, McCurdy Deborah   Defective DNA double-strand break repair in pediatric systemic lupus erythematosus Arthritis and rheumatism, 2012; 64(2): 568-78.
Nakamura Kotoka, Du Liutao, Tunuguntla Rashmi, Fike Francesca, Cavalieri Simona, Morio Tomohiro, Mizutani Shuki, Brusco Alfredo, Gatti Richard A   Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia Human mutation, 2012; 33(1): 198-208.
Bottini Alexander R, Gatti Richard A, Wirenfeldt Martin, Vinters Harry V   Heterotopic Purkinje cells in ataxia-telangiectasia Neuropathology : official journal of the Japanese Society of Neuropathology, 2012; 32(1): 23-9.
Nayler Sam, Gatei Magtouf, Kozlov Sergei, Gatti Richard, Mar Jessica C, Wells Christine A, Lavin Martin, Wolvetang Ernst   Induced pluripotent stem cells from ataxia-telangiectasia recapitulate the cellular phenotype Stem cells translational medicine, 2012; 1(7): 523-35.
Mancini Cecilia, Vaula Giovanna, Scalzitti Laura, Cavalieri Simona, Bertini Enrico, Aiello Chiara, Lucchini Cinzia, Gatti Richard A, Brussino Alessandro, Brusco Alfredo   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; 13(3): 205-14.
Vece Timothy J, Schecter Marc G, Gatti Richard A, Tunuguntla Rashmi, Garcia Christine Kim, Langston Claire, Dishop Megan K, Moore Robert H, Fan Leland L   Rapid and progressive pulmonary fibrosis in 2 families with DNA repair deficiencies of undetermined etiology The Journal of pediatrics, 2012; 160(4): 700-702.e3.
Gatti Richard A   SMRT compounds correct nonsense mutations in primary immunodeficiency and other genetic models Annals of the New York Academy of Sciences, 2012; 1250(4): 33-40.
de la Morena M Teresa, Gatti Richard A   A history of bone marrow transplantation Hematology/oncology clinics of North America, 2011; 25(1): 1-15.
Du Liutao, Kayali Refik, Bertoni Carmen, Fike Francesca, Hu Hailiang, Iversen Patrick L, Gatti Richard A   Arginine-rich cell-penetrating peptide dramatically enhances AMO-mediated ATM aberrant splicing correction and enables delivery to brain and cerebellum Human molecular genetics, 2011; 20(16): 3151-60.
Martin Nathan T, Nahas Shareef A, Tunuguntla Rashmi, Fike Francesca, Gatti Richard A   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, 2011; 101(1): 35-8.
Kim Kwanghee, Damoiseaux Robert, Norris Andrew J, Rivina Leena, Bradley Kenneth, Jung Michael E, Gatti Richard A, Schiestl Robert H, McBride William H   High throughput screening of small molecule libraries for modifiers of radiation responses International journal of radiation biology, 2011; 87(8): 839-45.
Hu Hailiang, Gatti Richard A   MicroRNAs: new players in the DNA damage response Journal of molecular cell biology, 2011; 3(3): 151-8.
Du Liutao, Gatti Richard A   Potential therapeutic applications of antisense morpholino oligonucleotides in modulation of splicing in primary immunodeficiency diseases Journal of immunological methods, 2011; 365(1-2): 1-7.
Li Jiali, Chen Jianmin, Vinters Harry V, Gatti Richard A, Herrup Karl   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, 2011; 31(20): 7568-77.
Jung Michael E, Ku Jin-Mo, Du Liutao, Hu Hailiang, Gatti Richard A   Synthesis and evaluation of compounds that induce readthrough of premature termination codons Bioorganic & medicinal chemistry letters, 2011; 21(19): 5842-8.
de la Morena M Teresa, Gatti Richard A   A history of bone marrow transplantation Immunology and allergy clinics of North America, 2010; 30(1): 1-15.
Sherman Mara H, Kuraishy Ali I, Deshpande Chetan, Hong Jason S, Cacalano Nicholas A, Gatti Richard A, Manis John P, Damore Michael A, Pellegrini Matteo, Teitell Michael A   AID-induced genotoxic stress promotes B cell differentiation in the germinal center via ATM and LKB1 signaling Molecular cell, 2010; 39(6): 873-85.
Hu Hailiang, Du Liutao, Nagabayashi Gindy, Seeger Robert C, Gatti Richard A   ATM is down-regulated by N-Myc-regulated microRNA-421 Proceedings of the National Academy of Sciences of the United States of America, 2010; 107(4): 1506-11.
Zha Shan, Bassing Craig H, Sanda Takaomi, Brush James W, Patel Harin, Goff Peter H, Murphy Michael M, Tepsuporn Suprawee, Gatti Richard A, Look A Thomas, Alt Frederick W   ATM-deficient thymic lymphoma is associated with aberrant tcrd rearrangement and gene amplification The Journal of experimental medicine, 2010; 207(7): 1369-80.
Pietrucha Barbara Maria, Heropolitańska-Pliszka Edyta, Wakulińska Anna, Skopczyńska Hanna, Gatti Richard A, Bernatowska Ewa   Ataxia-telangiectasia with hyper-IgM and Wilms tumor: fatal reaction to irradiation Journal of pediatric hematology/oncology, 2010; 32(1): e28-30.
Bernstein Jonine L, Haile Robert W, Stovall Marilyn, Boice John D, Shore Roy E, Langholz Bryan, Thomas Duncan C, Bernstein Leslie, Lynch Charles F, Olsen Jorgen H, Malone Kathleen E, Mellemkjaer Lene, Borresen-Dale Anne-Lise, Rosenstein Barry S, Teraoka Sharon N, Diep Anh T, Smith Susan A, Capanu Marinela, Reiner Anne S, Liang Xiaolin, Gatti Richard A, Concannon Patrick, Concannon Patrick   Radiation exposure, the ATM Gene, and contralateral breast cancer in the women's environmental cancer and radiation epidemiology study Journal of the National Cancer Institute, 2010; 102(7): 475-83.
Gatti Richard A, Perlman Susan   A proposed bailout for A-T patients? European journal of neurology : the official journal of the European Federation of Neurological Societies, 2009; 16(6): 653-5.
Yanofsky Rochelle A, Seshia Sashi S, Dawson Angelika J, Stobart Kent, Greenberg Cheryl R, Booth Frances A, Prasad Chitra, Del Bigio Marc R, Wrogemann Jens J, Fike Francesca, Gatti Richard A   Ataxia-telangiectasia: atypical presentation and toxicity of cancer treatment The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, 2009; 36(4): 462-7.
Saunders-Pullman Rachel J, Gatti Richard   Ataxia-telangiectasia: without ataxia or telangiectasia? Neurology, 2009; 73(6): 414-5.
Pollard Julianne M, Gatti Richard A   Clinical radiation sensitivity with DNA repair disorders: an overview International journal of radiation oncology, biology, physics, 2009; 74(5): 1323-31.
Nahas Shareef A, Gatti Richard A   DNA double strand break repair defects, primary immunodeficiency disorders, and 'radiosensitivity' Current opinion in allergy and clinical immunology, 2009; 9(6): 510-6.
Kim Kwanghee, Pollard Julianne M, Norris Andrew J, McDonald J Tyson, Sun Yingli, Micewicz Ewa, Pettijohn Kelly, Damoiseaux Robert, Iwamoto Keisuke S, Sayre James W, Price Brendan D, Gatti Richard A, McBride William H   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, 2009; 15(23): 7238-45.
Reliene Ramune, Pollard Julianne M, Sobol Zhanna, Trouiller Benedicte, Gatti Richard A, Schiestl Robert H   N-acetyl cysteine protects against ionizing radiation-induced DNA damage but not against cell killing in yeast and mammals Mutation research, 2009; 665(1-2): 37-43.
Du Liutao, Damoiseaux Robert, Nahas Shareef, Gao Kun, Hu Hailiang, Pollard Julianne M, Goldstine Jimena, Jung Michael E, Henning Susanne M, Bertoni Carmen, Gatti Richard A   Nonaminoglycoside compounds induce readthrough of nonsense mutations The Journal of experimental medicine, 2009; 206(10): 2285-97.
Morio Tomohiro, Takahashi Naomi, Watanabe Fumiaki, Honda Fumiko, Sato Masaki, Takagi Masatoshi, Imadome Ken-ichi, Miyawaki Toshio, Delia Domenico, Nakamura Kotoka, Gatti Richard A, Mizutani Shuki   Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan International journal of hematology, 2009; 90(4): 455-62.
Du Liutao, Gatti Richard A   Progress toward therapy with antisense-mediated splicing modulation Current opinion in molecular therapeutics, 2009; 11(2): 116-23.
Pollard Julianne M, Reboucas Julio S, Durazo Armando, Kos Ivan, Fike Francesca, Panni Moeen, Gralla Edith Butler, Valentine Joan Selverstone, Batinic-Haberle Ines, Gatti Richard A   Radioprotective effects of manganese-containing superoxide dismutase mimics on ataxia-telangiectasia cells Free radical biology & medicine, 2009; 47(3): 250-60.
Nahas Shareef A, Butch Anthony W, Du Liutao, Gatti Richard A   Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes Clinical chemistry, 2009; 55(3): 463-72.
Hu Hailiang, Gatti Richard A   New approaches to treatment of primary immunodeficiencies: fixing mutations with chemicals Current opinion in allergy and clinical immunology, 2008; 8(6): 540-6.
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 Science, 2007; 104: 6007-6012.
Ambrose M, Goldstine JV, Gatti RA   Intrinsic mitochondrial dysfunction in ATM-deficient lymphoblastoid cells, Hum Mol Genet, 2007; 16: 1-11.
Landmark H, Nahas SA et al.   Transcriptional response to ionizing radiation in human radiation sensitive cell lines, Radiotherapy and Oncology, 2007; 83: 256-260.
Pashankar F, et al.   Intact T cell responses in ataxia telangiectasia, Clin Immunol, 2006; 120: 158-162.
Mitui M, Bernatowska E, Peitrucha B, et al.   ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectsia, Ann Hum Genet, 2005; 89: 1-8.
Bento MC, Chang KT, Guan Y, Liu E, Caldas G, Gatti RA, Prchal JT   Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients Haematologica. , 2005; 90(1): 128-9.
Goldstine JV, Nahas, SA et al.   Constitutive phosphorylation of ATM in lymphoblastoid cell lines from patients with ICF syndrome without downstream kinase activity, DNA Repair, 2005; 5: 432-43.
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. , 2005; 25(2): 118-24.
Pan-Hammarstrom Q, Jones AM, Lahdesmaki A, Zhou W, Gatti RA, Hammarstrom L, Gennery AR, Ehrenstein MR   Impact of DNA ligase IV on nonhomologous end joining pathways during class switch recombination in human cells J Exp Med, 2005; 201(2): 189-94.
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. , 2004; 322(1): 74-81.
Chun HH, Gatti RA   Ataxia-telangiectasia, an evolving phenotype DNA repair. , 2004; 3(8-9): 1187-96.
C-H Lai, HH Chun, SA Nahas, M Mitui, KM Gamo, L Du, RA Gatti   Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons, Proceedings of the National Academy of Science, 2004; 101: 15676-17681.
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. , 2004; 126(1): 33-40.
Butch AW, Chun HH, Nahas SA, Gatti RA   Immunoassay to measure ataxia-telangiectasia mutated protein in cellular lysates Clinical chemistry. , 2004; 50(12): 2302-8.
Eng L, Coutinho G, Nahas S, Yeo G, Tanouye R, Babaei M, D??rk 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. , 2004; 23(1): 67-76.
Bernstein JL, Langholz B, Haile RW, Bernstein L, Thomas DC, Stovall M, Malone KE, Lynch CF, Olsen JH, Anton-Culver H, Shore RE, Boice Jr. JD, Berkowitz GS, Gatti RA, Teitelbaum SL, Smith SA, Rosenstein BS, Borresen-Dale AL, Concannon P, Thompson WD   Study design: evaluating gene-environment interactions in the etiology of breast cancer - the WECARE study Breast Cancer Res, 2004; 6(3): R199-214.
Pan-Hammarstrom Q, Dai S, Zhao Y, van Dijk-Hard IF, Gatti RA, Borresen-Dale AL, Hammarstrom L   ATM is not required in somatic hypermutation of VH, but is involved in the introduction of mutations in the switch mu region J Immunol, 2003; 170(7): 3707-16.
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. , 2003; 21(1): 80-5.
Bernstein JL, Bernstein L, Thompson WD, Lynch CF, Malone KE, Teitelbaum SL, Olsen JH, Anton-Culver H, Boice JD, Rosenstein BS, Borresen-Dale AL, Gatti RA, Concannon P, Haile RW   ATM variants 7271T>G and IVS10-6T>G among women with unilateral and bilateral breast cancer Br J Cancer, 2003; 89(8): 1513-6.
Perlman S, Becker-Catania S, Gatti RA   Ataxia-telangiectasia: diagnosis and treatment Semin Pediatr Neurol, 2003; 10(3): 173-82.
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. , 2003; 21(2): 123-31.
Bernstein JL, Teraoka S, Haile RW, Borresen-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 Hum Mutat, 2003; 21(5): 542-50.
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. , 2003; 80(4): 437-43.
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. , 2003; 22(1): 43-50.
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 : official journal of the American Society of Pediatric Hematology/Oncology. , 2003; 25(3): 248-51.
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. , 2002; 140(6): 724-31.
Chun HH et al   TCL-1, MTCP-1 and TML-1 gene expression profile in ataxia-telangiectasia patients with clonal proliferations or leukemia, Internat J Cancer, 2002; 97: 726-731.
O'Driscoll M et al   DNA ligaseIV mutations identified in patients exhibiting developmental delay and immunodeficiency, Molec Cell, 2001; 8: 1175-1185.
Zhao et al   A functional link between ATM kinase and NBS1 in the DNA damage response, Nature, 2000; 405: 473-476.
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. , 2000; 25(1): 115-9.