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Items: 8

1.

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.

PMID:
29731394
2.

NaV channel variants in patients with painful and nonpainful peripheral neuropathy.

Wadhawan S, Pant S, Golhar R, Kirov S, Thompson J, Jacobsen L, Qureshi I, Ajroud-Driss S, Freeman R, Simpson DM, Smith AG, Hoke A, Bristow LJ.

Neurol Genet. 2017 Dec 15;3(6):e207. doi: 10.1212/NXG.0000000000000207. eCollection 2017 Dec.

3.

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.

Almoguera B, Li J, Fernandez-San Jose P, Liu Y, March M, Pellegrino R, Golhar R, Corton M, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Guo Y, Tian L, Liu X, Guan L, Zhang J, Keating B, Xu X, Hakonarson H, Ayuso C.

PLoS One. 2015 Jul 21;10(7):e0133624. doi: 10.1371/journal.pone.0133624. eCollection 2015.

4.

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

Glessner JT, Bick AG, Ito K, Homsy J, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ, State MW, Kaltman JR, White PS, Shen Y, Warburton D, Brueckner M, Seidman C, Goldmuntz E, Gelb BD, Lifton R, Seidman J, Hakonarson H, Chung WK.

Circ Res. 2014 Oct 24;115(10):884-896. doi: 10.1161/CIRCRESAHA.115.304458. Epub 2014 Sep 9.

5.

Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming.

Picard M, Zhang J, Hancock S, Derbeneva O, Golhar R, Golik P, O'Hearn S, Levy S, Potluri P, Lvova M, Davila A, Lin CS, Perin JC, Rappaport EF, Hakonarson H, Trounce IA, Procaccio V, Wallace DC.

Proc Natl Acad Sci U S A. 2014 Sep 23;111(38):E4033-42. doi: 10.1073/pnas.1414028111. Epub 2014 Sep 5.

6.

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement.

Wang K, Kim C, Bradfield J, Guo Y, Toskala E, Otieno FG, Hou C, Thomas K, Cardinale C, Lyon GJ, Golhar R, Hakonarson H.

Genome Med. 2013 Jul 26;5(7):67. doi: 10.1186/gm471. eCollection 2013.

7.

Whole-genome sequencing in an autism multiplex family.

Shi L, Zhang X, Golhar R, Otieno FG, He M, Hou C, Kim C, Keating B, Lyon GJ, Wang K, Hakonarson H.

Mol Autism. 2013 Apr 18;4(1):8. doi: 10.1186/2040-2392-4-8.

8.

Low p53 binding protein 1 (53BP1) expression is associated with increased local recurrence in breast cancer patients treated with breast-conserving surgery and radiotherapy.

Neboori HJ, Haffty BG, Wu H, Yang Q, Aly A, Goyal S, Schiff D, Moran MS, Golhar R, Chen C, Moore D, Ganesan S.

Int J Radiat Oncol Biol Phys. 2012 Aug 1;83(5):e677-83. doi: 10.1016/j.ijrobp.2012.01.089. Epub 2012 Apr 18.

PMID:
22520477

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