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Items: 30

1.

Implementation of cancer next-generation sequencing testing in a community hospital.

Akkari Y, Smith T, Westfall J, Lupo S.

Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3). pii: a003707. doi: 10.1101/mcs.a003707. Print 2019 Jun.

2.

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.

LaCroix AJ, Stabley D, Sahraoui R, Adam MP, Mehaffey M, Kernan K, Myers CT, Fagerstrom C, Anadiotis G, Akkari YM, Robbins KM, Gripp KW, Baratela WAR, Bober MB, Duker AL, Doherty D, Dempsey JC, Miller DG, Kircher M, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics, Mefford HC, Sol-Church K.

Am J Hum Genet. 2019 Jan 3;104(1):35-44. doi: 10.1016/j.ajhg.2018.11.005. Epub 2018 Dec 13.

3.

A case for expanding carrier testing to include actionable X-linked disorders.

Rope AF, Kauffman TL, Himes P, Amendola LM, Punj S, Akkari Y, Potter A, Davis JV, Schneider JL, Reiss JA, Gilmore MJ, McMullen CK, Nickerson DA, Richards CS, Jarvik GP, Wilfond BS, Goddard KAB.

Clin Case Rep. 2018 Sep 19;6(11):2092-2095. doi: 10.1002/ccr3.1806. eCollection 2018 Nov.

4.

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.

Punj S, Akkari Y, Huang J, Yang F, Creason A, Pak C, Potter A, Dorschner MO, Nickerson DA, Robertson PD, Jarvik GP, Amendola LM, Schleit J, Simpson DK, Rope AF, Reiss J, Kauffman T, Gilmore MJ, Himes P, Wilfond B, Goddard KAB, Richards CS.

Am J Hum Genet. 2018 Jun 7;102(6):1078-1089. doi: 10.1016/j.ajhg.2018.04.004. Epub 2018 May 10.

5.

Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG).

Cherry AM, Akkari YM, Barr KM, Kearney HM, Rose NC, South ST, Tepperberg JH, Meck JM.

Genet Med. 2017 Aug;19(8):845-850. doi: 10.1038/gim.2017.91. Epub 2017 Jul 20.

PMID:
28726804
6.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL.

Am J Hum Genet. 2016 Jul 7;99(1):247. doi: 10.1016/j.ajhg.2016.06.001. No abstract available.

7.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL.

Am J Hum Genet. 2016 Jun 2;98(6):1067-1076. doi: 10.1016/j.ajhg.2016.03.024. Epub 2016 May 12. Erratum in: Am J Hum Genet. 2016 Jul 7;99(1):247.

8.

Fanconi anemia-like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene.

Click ES, Cox B, Olson SB, Grompe M, Akkari Y, Moreau LA, Shimamura A, Sternen DL, Liu YJ, Leppig KA, Matthews DC, Parisi MA.

Am J Med Genet A. 2011 Jul;155A(7):1673-9. doi: 10.1002/ajmg.a.34024. Epub 2011 May 27.

PMID:
21626672
9.

Topo IIIalpha and BLM act within the Fanconi anemia pathway in response to DNA-crosslinking agents.

Hemphill AW, Akkari Y, Newell AH, Schultz RA, Grompe M, North PS, Hickson ID, Jakobs PM, Rennie S, Pauw D, Hejna J, Olson SB, Moses RE.

Cytogenet Genome Res. 2009;125(3):165-75. doi: 10.1159/000230001. Epub 2009 Sep 4.

10.

Loss of homologous recombination or non-homologous end-joining leads to radial formation following DNA interstrand crosslink damage.

Hanlon Newell AE, Hemphill A, Akkari YM, Hejna J, Moses RE, Olson SB.

Cytogenet Genome Res. 2008;121(3-4):174-80. doi: 10.1159/000138882. Epub 2008 Aug 28.

11.

ERCC1 is required for FANCD2 focus formation.

McCabe KM, Hemphill A, Akkari Y, Jakobs PM, Pauw D, Olson SB, Moses RE, Grompe M.

Mol Genet Metab. 2008 Sep-Oct;95(1-2):66-73. doi: 10.1016/j.ymgme.2008.06.009. Epub 2008 Jul 30.

12.

Mammalian SNM1 is required for genome stability.

Hemphill AW, Bruun D, Thrun L, Akkari Y, Torimaru Y, Hejna K, Jakobs PM, Hejna J, Jones S, Olson SB, Moses RE.

Mol Genet Metab. 2008 May;94(1):38-45. doi: 10.1016/j.ymgme.2007.11.012. Epub 2008 Jan 3.

13.

Cytogenetic instability in ovarian epithelial cells from women at risk of ovarian cancer.

Pejovic T, Yates JE, Liu HY, Hays LE, Akkari Y, Torimaru Y, Keeble W, Rathbun RK, Rodgers WH, Bale AE, Ameziane N, Zwaan CM, Errami A, Thuillier P, Cappuccini F, Olson SB, Cain JM, Bagby GC Jr.

Cancer Res. 2006 Sep 15;66(18):9017-25.

14.

CRELD2: gene mapping, alternate splicing, and comparative genomic identification of the promoter region.

Maslen CL, Babcock D, Redig JK, Kapeli K, Akkari YM, Olson SB.

Gene. 2006 Nov 1;382:111-20. Epub 2006 Jul 7.

PMID:
16919896
15.

Aberrant stabilization of c-Myc protein in some lymphoblastic leukemias.

Malempati S, Tibbitts D, Cunningham M, Akkari Y, Olson S, Fan G, Sears RC.

Leukemia. 2006 Sep;20(9):1572-81. Epub 2006 Jul 20.

16.

Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia.

Yates J, Keeble W, Pals G, Ameziane N, van Spaendonk R, Olson S, Akkari Y, Pasquini R, Bagby G.

Hum Mutat. 2006 Feb;27(2):214.

PMID:
16429406
17.

Natural gene therapy in monozygotic twins with Fanconi anemia.

Mankad A, Taniguchi T, Cox B, Akkari Y, Rathbun RK, Lucas L, Bagby G, Olson S, D'Andrea A, Grompe M.

Blood. 2006 Apr 15;107(8):3084-90. Epub 2006 Jan 5.

18.

Fanconi anemia proteins are required to prevent accumulation of replication-associated DNA double-strand breaks.

Sobeck A, Stone S, Costanzo V, de Graaf B, Reuter T, de Winter J, Wallisch M, Akkari Y, Olson S, Wang W, Joenje H, Christian JL, Lupardus PJ, Cimprich KA, Gautier J, Hoatlin ME.

Mol Cell Biol. 2006 Jan;26(2):425-37.

19.

In vivo genetic selection of renal proximal tubules.

Held PK, Al-Dhalimy M, Willenbring H, Akkari Y, Jiang S, Torimaru Y, Olson S, Fleming WH, Finegold M, Grompe M.

Mol Ther. 2006 Jan;13(1):49-58. Epub 2005 Oct 10.

20.

Fancd2 functions in a double strand break repair pathway that is distinct from non-homologous end joining.

Houghtaling S, Newell A, Akkari Y, Taniguchi T, Olson S, Grompe M.

Hum Mol Genet. 2005 Oct 15;14(20):3027-33. Epub 2005 Aug 31.

PMID:
16135554
21.

Y chromosome heterochromatin of differing lengths in two cell populations of the same individual.

Akkari Y, Lawce H, Kelson S, Smith C, Davis C, Boyd L, Magenis RE, Olson S.

Prenat Diagn. 2005 Apr;25(4):304-6.

PMID:
15849801
22.

Heterozygosity for p53 (Trp53+/-) accelerates epithelial tumor formation in fanconi anemia complementation group D2 (Fancd2) knockout mice.

Houghtaling S, Granville L, Akkari Y, Torimaru Y, Olson S, Finegold M, Grompe M.

Cancer Res. 2005 Jan 1;65(1):85-91.

23.

Fanconi Anemia: A Decade of Discoveries.

Akkari Y, Olson S.

J Assoc Genet Technol. 2004;30(2):48-53.

PMID:
15345865
24.

Gamma-tubulin at ten: progress and prospects.

Oakley BR, Akkari YN.

Cell Struct Funct. 1999 Oct;24(5):365-72. Review.

25.

Myelomonocytic cells are sufficient for therapeutic cell fusion in liver.

Willenbring H, Bailey AS, Foster M, Akkari Y, Dorrell C, Olson S, Finegold M, Fleming WH, Grompe M.

Nat Med. 2004 Jul;10(7):744-8. Epub 2004 Jun 13.

PMID:
15195088
26.

Interstrand crosslink-induced radials form between non-homologous chromosomes, but are absent in sex chromosomes.

Newell AE, Akkari YM, Torimaru Y, Rosenthal A, Reifsteck CA, Cox B, Grompe M, Olson SB.

DNA Repair (Amst). 2004 May 4;3(5):535-42.

PMID:
15084315
27.

siRNA depletion of BRCA1, but not BRCA2, causes increased genome instability in Fanconi anemia cells.

Bruun D, Folias A, Akkari Y, Cox Y, Olson S, Moses R.

DNA Repair (Amst). 2003 Sep 18;2(9):1007-13.

PMID:
12967657
28.

Cell fusion is the principal source of bone-marrow-derived hepatocytes.

Wang X, Willenbring H, Akkari Y, Torimaru Y, Foster M, Al-Dhalimy M, Lagasse E, Finegold M, Olson S, Grompe M.

Nature. 2003 Apr 24;422(6934):897-901. Epub 2003 Mar 30.

PMID:
12665832
29.

The 4N cell cycle delay in Fanconi anemia reflects growth arrest in late S phase.

Akkari YM, Bateman RL, Reifsteck CA, D'Andrea AD, Olson SB, Grompe M.

Mol Genet Metab. 2001 Dec;74(4):403-12.

PMID:
11749045
30.

DNA replication is required To elicit cellular responses to psoralen-induced DNA interstrand cross-links.

Akkari YM, Bateman RL, Reifsteck CA, Olson SB, Grompe M.

Mol Cell Biol. 2000 Nov;20(21):8283-9.

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