Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 17

1.

Reliable Gene Expression Profiling from Small and Hematoxylin and Eosin-Stained Clinical Formalin-Fixed, Paraffin-Embedded Specimens Using the HTG EdgeSeq Platform.

Qi Z, Wang L, Desai K, Cogswell J, Stern M, Lawson B, Kerkar SP, Vitazka P.

J Mol Diagn. 2019 Sep;21(5):796-807. doi: 10.1016/j.jmoldx.2019.04.011. Epub 2019 Jun 27.

PMID:
31255795
2.

Tumor Mutational Burden and Efficacy of Nivolumab Monotherapy and in Combination with Ipilimumab in Small-Cell Lung Cancer.

Hellmann MD, Callahan MK, Awad MM, Calvo E, Ascierto PA, Atmaca A, Rizvi NA, Hirsch FR, Selvaggi G, Szustakowski JD, Sasson A, Golhar R, Vitazka P, Chang H, Geese WJ, Antonia SJ.

Cancer Cell. 2019 Feb 11;35(2):329. doi: 10.1016/j.ccell.2019.01.011. No abstract available.

PMID:
30753829
3.

STK11/LKB1 Mutations and PD-1 Inhibitor Resistance in KRAS-Mutant Lung Adenocarcinoma.

Skoulidis F, Goldberg ME, Greenawalt DM, Hellmann MD, Awad MM, Gainor JF, Schrock AB, Hartmaier RJ, Trabucco SE, Gay L, Ali SM, Elvin JA, Singal G, Ross JS, Fabrizio D, Szabo PM, Chang H, Sasson A, Srinivasan S, Kirov S, Szustakowski J, Vitazka P, Edwards R, Bufill JA, Sharma N, Ou SI, Peled N, Spigel DR, Rizvi H, Aguilar EJ, Carter BW, Erasmus J, Halpenny DF, Plodkowski AJ, Long NM, Nishino M, Denning WL, Galan-Cobo A, Hamdi H, Hirz T, Tong P, Wang J, Rodriguez-Canales J, Villalobos PA, Parra ER, Kalhor N, Sholl LM, Sauter JL, Jungbluth AA, Mino-Kenudson M, Azimi R, Elamin YY, Zhang J, Leonardi GC, Jiang F, Wong KK, Lee JJ, Papadimitrakopoulou VA, Wistuba II, Miller VA, Frampton GM, Wolchok JD, Shaw AT, Jänne PA, Stephens PJ, Rudin CM, Geese WJ, Albacker LA, Heymach JV.

Cancer Discov. 2018 Jul;8(7):822-835. doi: 10.1158/2159-8290.CD-18-0099. Epub 2018 May 17.

4.

Tumor Mutational Burden and Efficacy of Nivolumab Monotherapy and in Combination with Ipilimumab in Small-Cell Lung Cancer.

Hellmann MD, Callahan MK, Awad MM, Calvo E, Ascierto PA, Atmaca A, Rizvi NA, Hirsch FR, Selvaggi G, Szustakowski JD, Sasson A, Golhar R, Vitazka P, Chang H, Geese WJ, Antonia SJ.

Cancer Cell. 2018 May 14;33(5):853-861.e4. doi: 10.1016/j.ccell.2018.04.001. Epub 2018 May 3. Erratum in: Cancer Cell. 2019 Feb 11;35(2):329.

5.

Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Hellmann MD, Nathanson T, Rizvi H, Creelan BC, Sanchez-Vega F, Ahuja A, Ni A, Novik JB, Mangarin LMB, Abu-Akeel M, Liu C, Sauter JL, Rekhtman N, Chang E, Callahan MK, Chaft JE, Voss MH, Tenet M, Li XM, Covello K, Renninger A, Vitazka P, Geese WJ, Borghaei H, Rudin CM, Antonia SJ, Swanton C, Hammerbacher J, Merghoub T, McGranahan N, Snyder A, Wolchok JD.

Cancer Cell. 2018 May 14;33(5):843-852.e4. doi: 10.1016/j.ccell.2018.03.018. Epub 2018 Apr 12.

6.

De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay.

Yang H, Douglas G, Monaghan KG, Retterer K, Cho MT, Escobar LF, Tucker ME, Stoler J, Rodan LH, Stein D, Marks W, Enns GM, Platt J, Cox R, Wheeler PG, Crain C, Calhoun A, Tryon R, Richard G, Vitazka P, Chung WK.

Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000562. doi: 10.1101/mcs.a000562.

7.

De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly.

Ye Y, Cho MT, Retterer K, Alexander N, Ben-Omran T, Al-Mureikhi M, Cristian I, Wheeler PG, Crain C, Zand D, Weinstein V, Vernon HJ, McClellan R, Krishnamurthy V, Vitazka P, Millan F, Chung WK.

Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000455. doi: 10.1101/mcs.a000455.

8.

Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.

Millan F, Cho MT, Retterer K, Monaghan KG, Bai R, Vitazka P, Everman DB, Smith B, Angle B, Roberts V, Immken L, Nagakura H, DiFazio M, Sherr E, Haverfield E, Friedman B, Telegrafi A, Juusola J, Chung WK, Bale S.

Am J Med Genet A. 2016 Jul;170(7):1791-8. doi: 10.1002/ajmg.a.37670. Epub 2016 May 2.

PMID:
27133397
9.

Clinical application of whole-exome sequencing across clinical indications.

Retterer K, Juusola J, Cho MT, Vitazka P, Millan F, Gibellini F, Vertino-Bell A, Smaoui N, Neidich J, Monaghan KG, McKnight D, Bai R, Suchy S, Friedman B, Tahiliani J, Pineda-Alvarez D, Richard G, Brandt T, Haverfield E, Chung WK, Bale S.

Genet Med. 2016 Jul;18(7):696-704. doi: 10.1038/gim.2015.148. Epub 2015 Dec 3.

PMID:
26633542
10.

WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.

DeSanto C, D'Aco K, Araujo GC, Shannon N; DDD Study, Vernon H, Rahrig A, Monaghan KG, Niu Z, Vitazka P, Dodd J, Tang S, Manwaring L, Martir-Negron A, Schnur RE, Juusola J, Schroeder A, Pan V, Helbig KL, Friedman B, Shinawi M.

J Med Genet. 2015 Nov;52(11):754-61. doi: 10.1136/jmedgenet-2015-103069. Epub 2015 Aug 11.

PMID:
26264232
11.

Mutations in ARID2 are associated with intellectual disabilities.

Shang L, Cho MT, Retterer K, Folk L, Humberson J, Rohena L, Sidhu A, Saliganan S, Iglesias A, Vitazka P, Juusola J, O'Donnell-Luria AH, Shen Y, Chung WK.

Neurogenetics. 2015 Oct;16(4):307-14. doi: 10.1007/s10048-015-0454-0. Epub 2015 Aug 4.

PMID:
26238514
12.

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.

Yavarna T, Al-Dewik N, Al-Mureikhi M, Ali R, Al-Mesaifri F, Mahmoud L, Shahbeck N, Lakhani S, AlMulla M, Nawaz Z, Vitazka P, Alkuraya FS, Ben-Omran T.

Hum Genet. 2015 Sep;134(9):967-80. doi: 10.1007/s00439-015-1575-0. Epub 2015 Jun 16.

PMID:
26077850
13.

Reporting incidental findings in genomic scale clinical sequencing--a clinical laboratory perspective: a report of the Association for Molecular Pathology.

Hegde M, Bale S, Bayrak-Toydemir P, Gibson J, Jeng LJ, Joseph L, Laser J, Lubin IM, Miller CE, Ross LF, Rothberg PG, Tanner AK, Vitazka P, Mao R.

J Mol Diagn. 2015 Mar;17(2):107-17. doi: 10.1016/j.jmoldx.2014.10.004. Epub 2015 Feb 12.

14.

Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy.

Lyon E, Gastier Foster J, Palomaki GE, Pratt VM, Reynolds K, Sábato MF, Scott SA, Vitazka P; working group of the Molecular Genetics Subcommittee on behalf of the American College of Medical Genetics and Genomics ACMG) Laboratory Quality Assurance Committee.

Genet Med. 2012 Dec;14(12):990-1000. doi: 10.1038/gim.2012.108. Epub 2012 Sep 6. Review.

PMID:
22955113
15.

Presence of SPINK-1 variant alters the course of chronic pancreatitis.

Sandhu B, Vitazka P, Ferreira-Gonzalez A, Pandya A, Vachhani R, Bouhaidar D, Zfass A, Sanyal A.

J Gastroenterol Hepatol. 2011 Jun;26(6):965-9. doi: 10.1111/j.1440-1746.2011.06713.x.

PMID:
21375584
16.

CpG methylation analysis--current status of clinical assays and potential applications in molecular diagnostics: a report of the Association for Molecular Pathology.

Sepulveda AR, Jones D, Ogino S, Samowitz W, Gulley ML, Edwards R, Levenson V, Pratt VM, Yang B, Nafa K, Yan L, Vitazka P.

J Mol Diagn. 2009 Jul;11(4):266-78. doi: 10.2353/jmoldx.2009.080125. Epub 2009 Jun 18.

17.

Insights into catalysis by a knotted TrmD tRNA methyltransferase.

Elkins PA, Watts JM, Zalacain M, van Thiel A, Vitazka PR, Redlak M, Andraos-Selim C, Rastinejad F, Holmes WM.

J Mol Biol. 2003 Nov 7;333(5):931-49.

PMID:
14583191

Supplemental Content

Loading ...
Support Center