Gatti RA - Search Results

1

Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.

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. Stewart DR, et al. Among authors: gatti ra. PLoS One. 2014 Jun 3;9(6):e98686. doi: 10.1371/journal.pone.0098686. eCollection 2014. PLoS One. 2014. PMID: 24892279 Free PMC article.

2

Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family.

Pathak A, Seipel K, Pemov A, Dewan R, Brown C, Ravichandran S, Luke BT, Malasky M, Suman S, Yeager M; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group; Gatti RA, Caporaso NE, Mulvihill JJ, Goldin LR, Pabst T, McMaster ML, Stewart DR. Pathak A, et al. Among authors: gatti ra. Haematologica. 2016 Jul;101(7):846-52. doi: 10.3324/haematol.2015.130799. Epub 2015 Dec 31. Haematologica. 2016. PMID: 26721895 Free PMC article.

3

ATM-dependent MiR-335 targets CtIP and modulates the DNA damage response.

Martin NT, Nakamura K, Davies R, Nahas SA, Brown C, Tunuguntla R, Gatti RA, Hu H. Martin NT, et al. Among authors: gatti ra. PLoS Genet. 2013 May;9(5):e1003505. doi: 10.1371/journal.pgen.1003505. Epub 2013 May 16. PLoS Genet. 2013. PMID: 23696749 Free PMC article.

4

Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).

Patel JP, Puck JM, Srinivasan R, Brown C, Sunderam U, Kundu K, Brenner SE, Gatti RA, Church JA. Patel JP, et al. Among authors: gatti ra. J Clin Immunol. 2015 Feb;35(2):227-33. doi: 10.1007/s10875-015-0136-6. Epub 2015 Feb 13. J Clin Immunol. 2015. PMID: 25677497 Free PMC article.

5

Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks.

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. Martin NT, et al. Among authors: gatti ra. Cell Death Dis. 2014 Mar 20;5(3):e1130. doi: 10.1038/cddis.2014.99. Cell Death Dis. 2014. PMID: 24651433 Free PMC article.

6

Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.

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 Jr, Gatti RA. Coutinho G, et al. Among authors: gatti ra. Am J Med Genet A. 2004 Apr 1;126A(1):33-40. doi: 10.1002/ajmg.a.20570. Am J Med Genet A. 2004. PMID: 15039971

7

Extreme growth failure is a common presentation of ligase IV deficiency.

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, Doonanco K, Adès L, Ma A, Field M, Johnson D, Shackley F, Firth H, Woods CG, Nürnberg P, Gatti RA, Hurles M, Bober MB, Wollnik B, Jackson AP. Murray JE, et al. Among authors: gatti ra. Hum Mutat. 2014 Jan;35(1):76-85. doi: 10.1002/humu.22461. Epub 2013 Nov 8. Hum Mutat. 2014. PMID: 24123394 Free PMC article.

8

Genes affecting ionizing radiation survival identified through combined exome sequencing and functional screening.

Gupta M, Liu X, Teraoka SN, Wright JA, Gatti RA, Quinlan A, Concannon P. Gupta M, et al. Among authors: gatti ra. Hum Mutat. 2021 Sep;42(9):1124-1138. doi: 10.1002/humu.24241. Epub 2021 Jul 6. Hum Mutat. 2021. PMID: 34153142

9

Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.

Gómez-Grau M, Garrido E, Cozar M, Rodriguez-Sureda V, Domínguez C, Arenas C, Gatti RA, Cormand B, Grinberg D, Vilageliu L. Gómez-Grau M, et al. Among authors: gatti ra. PLoS One. 2015 Aug 19;10(8):e0135873. doi: 10.1371/journal.pone.0135873. eCollection 2015. PLoS One. 2015. PMID: 26287674 Free PMC article.

10

The inherited basis of human radiosensitivity.

Gatti RA. Gatti RA. Acta Oncol. 2001;40(6):702-11. doi: 10.1080/02841860152619115. Acta Oncol. 2001. PMID: 11765064 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

314 results

Search Page