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Items: 1 to 50 of 344

1.

A diagnostic algorithm for enhanced detection of mosaic tuberous sclerosis complex in adults.

Treichel AM, Kwiatkowski DJ, Moss J, Darling TN.

Br J Dermatol. 2019 Jul 9. doi: 10.1111/bjd.18332. [Epub ahead of print]

PMID:
31287558
2.

Generalized mosaicism for TSC2 mutation in isolated Lymphangioleiomyomatosis.

Ogorek B, Hamieh L, Lasseter K, Bagwe S, Machado T, Herranz-Ors C, Thorner AR, Nag A, Gulleman P, Giannikou K, Young LR, Pujana MÀ, Darling TN, El-Chemaly S, Moss J, Henske EP, Kwiatkowski DJ.

Eur Respir J. 2019 Jul 4. pii: 1900938. doi: 10.1183/13993003.00938-2019. [Epub ahead of print] No abstract available.

PMID:
31273045
3.

MET IHC Is a Poor Screen for MET Amplification or MET Exon 14 Mutations in Lung Adenocarcinomas: Data from a Tri-Institutional Cohort of the Lung Cancer Mutation Consortium.

Guo R, Berry LD, Aisner DL, Sheren J, Boyle T, Bunn PA Jr, Johnson BE, Kwiatkowski DJ, Drilon A, Sholl LM, Kris MG.

J Thorac Oncol. 2019 Jun 20. pii: S1556-0864(19)30474-5. doi: 10.1016/j.jtho.2019.06.009. [Epub ahead of print]

PMID:
31228623
4.

Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study.

Moavero R, Benvenuto A, Emberti Gialloreti L, Siracusano M, Kotulska K, Weschke B, Riney K, Jansen FE, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Borkowska J, Sadowski K, Hertzberg C, Hulshof H, Samueli S, Benova B, Aronica E, Kwiatkowski DJ, Lagae L, Jozwiak S, Curatolo P.

J Clin Med. 2019 Jun 3;8(6). pii: E788. doi: 10.3390/jcm8060788.

5.

Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission.

Giannikou K, Lasseter KD, Grevelink JM, Tyburczy ME, Dies KA, Zhu Z, Hamieh L, Wollison BM, Thorner AR, Ruoss SJ, Thiele EA, Sahin M, Kwiatkowski DJ.

Genet Med. 2019 Jun 4. doi: 10.1038/s41436-019-0562-6. [Epub ahead of print]

PMID:
31160751
6.

Phenotypic distinctions between mosaic forms of tuberous sclerosis complex.

Treichel AM, Hamieh L, Nathan NR, Tyburczy ME, Wang JA, Oyerinde O, Raiciulescu S, Julien-Williams P, Jones AM, Gopalakrishnan V, Moss J, Kwiatkowski DJ, Darling TN.

Genet Med. 2019 May 22. doi: 10.1038/s41436-019-0520-3. [Epub ahead of print]

PMID:
31114024
7.

The Codon 72 TP53 Polymorphism Contributes to TSC Tumorigenesis through the Notch-Nodal Axis.

Cho JH, Patel B, Bonala S, Mansouri H, Manne S, Vadrevu SK, Ghouse S, Kung CP, Murphy ME, Astrinidis A, Henske EP, Kwiatkowski DJ, Markiewski MM, Karbowniczek M.

Mol Cancer Res. 2019 Aug;17(8):1639-1651. doi: 10.1158/1541-7786.MCR-18-1292. Epub 2019 May 14.

PMID:
31088907
8.

Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.

Salussolia CL, Klonowska K, Kwiatkowski DJ, Sahin M.

Annu Rev Genomics Hum Genet. 2019 Apr 24. doi: 10.1146/annurev-genom-083118-015354. [Epub ahead of print]

PMID:
31018109
9.

A genome-wide association study implicates NR2F2 in lymphangioleiomyomatosis pathogenesis.

Kim W, Giannikou K, Dreier JR, Lee S, Tyburczy ME, Silverman EK, Radzikowska E, Wu S, Wu CL, Henske EP, Hunninghake G, Carel H, Roman A, Pujana MA, Moss J, Won S, Kwiatkowski DJ.

Eur Respir J. 2019 Jun 27;53(6). pii: 1900329. doi: 10.1183/13993003.00329-2019. Print 2019 Jun.

PMID:
31000673
10.

MCL1 and DEDD Promote Urothelial Carcinoma Progression.

Hong AL, Guerriero JL, Doshi MB, Kynnap BD, Kim WJ, Schinzel AC, Modiste R, Schlauch AJ, Adam RM, Kwiatkowski DJ, Beroukhim R, Letai A, Rosenberg JE, Hahn WC.

Mol Cancer Res. 2019 Jun;17(6):1294-1304. doi: 10.1158/1541-7786.MCR-18-0963. Epub 2019 Feb 18.

PMID:
30777879
11.

Characteristics and Outcomes of Patients With Metastatic KRAS-Mutant Lung Adenocarcinomas: The Lung Cancer Mutation Consortium Experience.

El Osta B, Behera M, Kim S, Berry LD, Sica G, Pillai RN, Owonikoko TK, Kris MG, Johnson BE, Kwiatkowski DJ, Sholl LM, Aisner DL, Bunn PA, Khuri FR, Ramalingam SS.

J Thorac Oncol. 2019 May;14(5):876-889. doi: 10.1016/j.jtho.2019.01.020. Epub 2019 Feb 5.

PMID:
30735816
12.

Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites.

Nassar AH, Umeton R, Kim J, Lundgren K, Harshman L, Van Allen EM, Preston M, Dong F, Bellmunt J, Mouw KW, Choueiri TK, Sonpavde G, Kwiatkowski DJ.

Clin Cancer Res. 2019 Apr 15;25(8):2458-2470. doi: 10.1158/1078-0432.CCR-18-3147. Epub 2018 Dec 28.

PMID:
30593515
13.

Integrative Molecular Characterization of Malignant Pleural Mesothelioma.

Hmeljak J, Sanchez-Vega F, Hoadley KA, Shih J, Stewart C, Heiman D, Tarpey P, Danilova L, Drill E, Gibb EA, Bowlby R, Kanchi R, Osmanbeyoglu HU, Sekido Y, Takeshita J, Newton Y, Graim K, Gupta M, Gay CM, Diao L, Gibbs DL, Thorsson V, Iype L, Kantheti H, Severson DT, Ravegnini G, Desmeules P, Jungbluth AA, Travis WD, Dacic S, Chirieac LR, Galateau-Sallé F, Fujimoto J, Husain AN, Silveira HC, Rusch VW, Rintoul RC, Pass H, Kindler H, Zauderer MG, Kwiatkowski DJ, Bueno R, Tsao AS, Creaney J, Lichtenberg T, Leraas K, Bowen J; TCGA Research Network, Felau I, Zenklusen JC, Akbani R, Cherniack AD, Byers LA, Noble MS, Fletcher JA, Robertson AG, Shen R, Aburatani H, Robinson BW, Campbell P, Ladanyi M.

Cancer Discov. 2018 Dec;8(12):1548-1565. doi: 10.1158/2159-8290.CD-18-0804. Epub 2018 Oct 15.

PMID:
30322867
14.

Mechanisms of acquired resistance to rapalogs in metastatic renal cell carcinoma.

Hamieh L, Choueiri TK, Ogórek B, Khabibullin D, Rosebrock D, Livitz D, Fay A, Pignon JC, McDermott DF, Agarwal N, Gao W, Signoretti S, Kwiatkowski DJ.

PLoS Genet. 2018 Sep 26;14(9):e1007679. doi: 10.1371/journal.pgen.1007679. eCollection 2018 Sep.

15.

A novel mouse model of hemangiopericytoma due to loss of Tsc2.

Du H, Dreier JR, Zarei M, Wu CL, Bronson RW, Kwiatkowski DJ.

Hum Mol Genet. 2018 Dec 15;27(24):4169-4175. doi: 10.1093/hmg/ddy289.

PMID:
30124871
16.

Comprehensive Molecular Characterization of Muscle-Invasive Bladder Cancer.

Robertson AG, Kim J, Al-Ahmadie H, Bellmunt J, Guo G, Cherniack AD, Hinoue T, Laird PW, Hoadley KA, Akbani R, Castro MAA, Gibb EA, Kanchi RS, Gordenin DA, Shukla SA, Sanchez-Vega F, Hansel DE, Czerniak BA, Reuter VE, Su X, de Sa Carvalho B, Chagas VS, Mungall KL, Sadeghi S, Pedamallu CS, Lu Y, Klimczak LJ, Zhang J, Choo C, Ojesina AI, Bullman S, Leraas KM, Lichtenberg TM, Wu CJ, Schultz N, Getz G, Meyerson M, Mills GB, McConkey DJ; TCGA Research Network, Weinstein JN, Kwiatkowski DJ, Lerner SP.

Cell. 2018 Aug 9;174(4):1033. doi: 10.1016/j.cell.2018.07.036. No abstract available.

17.

Assessment of Resistance Mechanisms and Clinical Implications in Patients With EGFR T790M-Positive Lung Cancer and Acquired Resistance to Osimertinib.

Oxnard GR, Hu Y, Mileham KF, Husain H, Costa DB, Tracy P, Feeney N, Sholl LM, Dahlberg SE, Redig AJ, Kwiatkowski DJ, Rabin MS, Paweletz CP, Thress KS, Jänne PA.

JAMA Oncol. 2018 Nov 1;4(11):1527-1534. doi: 10.1001/jamaoncol.2018.2969.

18.

The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma.

Ricketts CJ, De Cubas AA, Fan H, Smith CC, Lang M, Reznik E, Bowlby R, Gibb EA, Akbani R, Beroukhim R, Bottaro DP, Choueiri TK, Gibbs RA, Godwin AK, Haake S, Hakimi AA, Henske EP, Hsieh JJ, Ho TH, Kanchi RS, Krishnan B, Kwiatkowski DJ, Lui W, Merino MJ, Mills GB, Myers J, Nickerson ML, Reuter VE, Schmidt LS, Shelley CS, Shen H, Shuch B, Signoretti S, Srinivasan R, Tamboli P, Thomas G, Vincent BG, Vocke CD, Wheeler DA, Yang L, Kim WY, Robertson AG; Cancer Genome Atlas Research Network, Spellman PT, Rathmell WK, Linehan WM.

Cell Rep. 2018 Jun 19;23(12):3698. doi: 10.1016/j.celrep.2018.06.032. No abstract available.

19.

Impairment of gamma-glutamyl transferase 1 activity in the metabolic pathogenesis of chromophobe renal cell carcinoma.

Priolo C, Khabibullin D, Reznik E, Filippakis H, Ogórek B, Kavanagh TR, Nijmeh J, Herbert ZT, Asara JM, Kwiatkowski DJ, Wu CL, Henske EP.

Proc Natl Acad Sci U S A. 2018 Jul 3;115(27):E6274-E6282. doi: 10.1073/pnas.1710849115. Epub 2018 Jun 11.

20.

Comprehensive Genomic Profiling of Metastatic Tumors in a Phase 2 Biomarker Study of Everolimus in Advanced Renal Cell Carcinoma.

Gao X, Jegede O, Gray C, Catalano PJ, Novak J, Kwiatkowski DJ, McKay RR, George DJ, Choueiri TK, McDermott DF, Signoretti S, Bhatt RS.

Clin Genitourin Cancer. 2018 Oct;16(5):341-348. doi: 10.1016/j.clgc.2018.04.001. Epub 2018 Apr 25.

PMID:
29754934
21.

RAS-MAPK Reactivation Facilitates Acquired Resistance in FGFR1-Amplified Lung Cancer and Underlies a Rationale for Upfront FGFR-MEK Blockade.

Bockorny B, Rusan M, Chen W, Liao RG, Li Y, Piccioni F, Wang J, Tan L, Thorner AR, Li T, Zhang Y, Miao C, Ovesen T, Shapiro GI, Kwiatkowski DJ, Gray NS, Meyerson M, Hammerman PS, Bass AJ.

Mol Cancer Ther. 2018 Jul;17(7):1526-1539. doi: 10.1158/1535-7163.MCT-17-0464. Epub 2018 Apr 13.

22.

The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma.

Ricketts CJ, De Cubas AA, Fan H, Smith CC, Lang M, Reznik E, Bowlby R, Gibb EA, Akbani R, Beroukhim R, Bottaro DP, Choueiri TK, Gibbs RA, Godwin AK, Haake S, Hakimi AA, Henske EP, Hsieh JJ, Ho TH, Kanchi RS, Krishnan B, Kwiatkowski DJ, Lui W, Merino MJ, Mills GB, Myers J, Nickerson ML, Reuter VE, Schmidt LS, Shelley CS, Shen H, Shuch B, Signoretti S, Srinivasan R, Tamboli P, Thomas G, Vincent BG, Vocke CD, Wheeler DA, Yang L, Kim WY, Robertson AG; Cancer Genome Atlas Research Network, Spellman PT, Rathmell WK, Linehan WM.

Cell Rep. 2018 Apr 3;23(1):313-326.e5. doi: 10.1016/j.celrep.2018.03.075. Erratum in: Cell Rep. 2018 Jun 19;23(12):3698.

23.

TSC2 regulates microRNA biogenesis via mTORC1 and GSK3β.

Ogórek B, Lam HC, Khabibullin D, Liu HJ, Nijmeh J, Triboulet R, Kwiatkowski DJ, Gregory RI, Henske EP.

Hum Mol Genet. 2018 May 1;27(9):1654-1663. doi: 10.1093/hmg/ddy073.

24.

Pan-Cancer Molecular Classes Transcending Tumor Lineage Across 32 Cancer Types, Multiple Data Platforms, and over 10,000 Cases.

Chen F, Zhang Y, Gibbons DL, Deneen B, Kwiatkowski DJ, Ittmann M, Creighton CJ.

Clin Cancer Res. 2018 May 1;24(9):2182-2193. doi: 10.1158/1078-0432.CCR-17-3378. Epub 2018 Feb 9.

25.

Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology.

Lindeman NI, Cagle PT, Aisner DL, Arcila ME, Beasley MB, Bernicker EH, Colasacco C, Dacic S, Hirsch FR, Kerr K, Kwiatkowski DJ, Ladanyi M, Nowak JA, Sholl L, Temple-Smolkin R, Solomon B, Souter LH, Thunnissen E, Tsao MS, Ventura CB, Wynes MW, Yatabe Y.

J Mol Diagn. 2018 Mar;20(2):129-159. doi: 10.1016/j.jmoldx.2017.11.004. Epub 2018 Jan 23.

PMID:
29398453
26.

Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology.

Lindeman NI, Cagle PT, Aisner DL, Arcila ME, Beasley MB, Bernicker EH, Colasacco C, Dacic S, Hirsch FR, Kerr K, Kwiatkowski DJ, Ladanyi M, Nowak JA, Sholl L, Temple-Smolkin R, Solomon B, Souter LH, Thunnissen E, Tsao MS, Ventura CB, Wynes MW, Yatabe Y.

J Thorac Oncol. 2018 Mar;13(3):323-358. doi: 10.1016/j.jtho.2017.12.001. Epub 2018 Jan 25.

27.

Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology.

Lindeman NI, Cagle PT, Aisner DL, Arcila ME, Beasley MB, Bernicker EH, Colasacco C, Dacic S, Hirsch FR, Kerr K, Kwiatkowski DJ, Ladanyi M, Nowak JA, Sholl L, Temple-Smolkin R, Solomon B, Souter LH, Thunnissen E, Tsao MS, Ventura CB, Wynes MW, Yatabe Y.

Arch Pathol Lab Med. 2018 Mar;142(3):321-346. doi: 10.5858/arpa.2017-0388-CP. Epub 2018 Jan 22. Review.

PMID:
29355391
28.

Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.

D'Gama AM, Woodworth MB, Hossain AA, Bizzotto S, Hatem NE, LaCoursiere CM, Najm I, Ying Z, Yang E, Barkovich AJ, Kwiatkowski DJ, Vinters HV, Madsen JR, Mathern GW, Blümcke I, Poduri A, Walsh CA.

Cell Rep. 2017 Dec 26;21(13):3754-3766. doi: 10.1016/j.celrep.2017.11.106.

29.

Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations.

Bongaarts A, Giannikou K, Reinten RJ, Anink JJ, Mills JD, Jansen FE, Spliet GMW, den Dunnen WFA, Coras R, Blümcke I, Paulus W, Scholl T, Feucht M, Kotulska K, Jozwiak S, Buccoliero AM, Caporalini C, Giordano F, Genitori L, Söylemezoğlu F, Pimentel J, Nellist M, Schouten-van Meeteren AYN, Nag A, Mühlebner A, Kwiatkowski DJ, Aronica E.

Oncotarget. 2017 Sep 8;8(56):95516-95529. doi: 10.18632/oncotarget.20764. eCollection 2017 Nov 10.

30.

The Impact of Smoking and TP53 Mutations in Lung Adenocarcinoma Patients with Targetable Mutations-The Lung Cancer Mutation Consortium (LCMC2).

Aisner DL, Sholl LM, Berry LD, Rossi MR, Chen H, Fujimoto J, Moreira AL, Ramalingam SS, Villaruz LC, Otterson GA, Haura E, Politi K, Glisson B, Cetnar J, Garon EB, Schiller J, Waqar SN, Sequist LV, Brahmer J, Shyr Y, Kugler K, Wistuba II, Johnson BE, Minna JD, Kris MG, Bunn PA, Kwiatkowski DJ; LCMC2 investigators.

Clin Cancer Res. 2018 Mar 1;24(5):1038-1047. doi: 10.1158/1078-0432.CCR-17-2289. Epub 2017 Dec 7.

31.

mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex.

Kelly E, Schaeffer SM, Dhamne SC, Lipton JO, Lindemann L, Honer M, Jaeschke G, Super CE, Lammers SH, Modi ME, Silverman JL, Dreier JR, Kwiatkowski DJ, Rotenberg A, Sahin M.

Neuropsychopharmacology. 2018 May;43(6):1457-1465. doi: 10.1038/npp.2017.295. Epub 2017 Dec 5.

32.

Notch transactivates Rheb to maintain the multipotency of TSC-null cells.

Cho JH, Patel B, Bonala S, Manne S, Zhou Y, Vadrevu SK, Patel J, Peronaci M, Ghouse S, Henske EP, Roegiers F, Giannikou K, Kwiatkowski DJ, Mansouri H, Markiewski MM, White B, Karbowniczek M.

Nat Commun. 2017 Nov 29;8(1):1848. doi: 10.1038/s41467-017-01845-1.

33.

mTORC1 Couples Nucleotide Synthesis to Nucleotide Demand Resulting in a Targetable Metabolic Vulnerability.

Valvezan AJ, Turner M, Belaid A, Lam HC, Miller SK, McNamara MC, Baglini C, Housden BE, Perrimon N, Kwiatkowski DJ, Asara JM, Henske EP, Manning BD.

Cancer Cell. 2017 Nov 13;32(5):624-638.e5. doi: 10.1016/j.ccell.2017.09.013. Epub 2017 Oct 19.

34.

Rapamycin-induced miR-21 promotes mitochondrial homeostasis and adaptation in mTORC1 activated cells.

Lam HC, Liu HJ, Baglini CV, Filippakis H, Alesi N, Nijmeh J, Du H, Lope AL, Cottrill KA, Handen A, Asara JM, Kwiatkowski DJ, Ben-Sahra I, Oldham WM, Chan SY, Henske EP.

Oncotarget. 2017 Aug 4;8(39):64714-64727. doi: 10.18632/oncotarget.19947. eCollection 2017 Sep 12.

35.

Comprehensive Molecular Characterization of Muscle-Invasive Bladder Cancer.

Robertson AG, Kim J, Al-Ahmadie H, Bellmunt J, Guo G, Cherniack AD, Hinoue T, Laird PW, Hoadley KA, Akbani R, Castro MAA, Gibb EA, Kanchi RS, Gordenin DA, Shukla SA, Sanchez-Vega F, Hansel DE, Czerniak BA, Reuter VE, Su X, de Sa Carvalho B, Chagas VS, Mungall KL, Sadeghi S, Pedamallu CS, Lu Y, Klimczak LJ, Zhang J, Choo C, Ojesina AI, Bullman S, Leraas KM, Lichtenberg TM, Wu CJ, Schultz N, Getz G, Meyerson M, Mills GB, McConkey DJ; TCGA Research Network, Weinstein JN, Kwiatkowski DJ, Lerner SP.

Cell. 2017 Oct 19;171(3):540-556.e25. doi: 10.1016/j.cell.2017.09.007. Epub 2017 Oct 5. Erratum in: Cell. 2018 Aug 9;174(4):1033.

36.

Genomic Activation of PPARG Reveals a Candidate Therapeutic Axis in Bladder Cancer.

Goldstein JT, Berger AC, Shih J, Duke FF, Furst L, Kwiatkowski DJ, Cherniack AD, Meyerson M, Strathdee CA.

Cancer Res. 2017 Dec 15;77(24):6987-6998. doi: 10.1158/0008-5472.CAN-17-1701. Epub 2017 Sep 18.

37.

Human Pluripotent Stem Cell-Derived TSC2-Haploinsufficient Smooth Muscle Cells Recapitulate Features of Lymphangioleiomyomatosis.

Julian LM, Delaney SP, Wang Y, Goldberg AA, Doré C, Yockell-Lelièvre J, Tam RY, Giannikou K, McMurray F, Shoichet MS, Harper ME, Henske EP, Kwiatkowski DJ, Darling TN, Moss J, Kristof AS, Stanford WL.

Cancer Res. 2017 Oct 15;77(20):5491-5502. doi: 10.1158/0008-5472.CAN-17-0925. Epub 2017 Aug 22.

38.

Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment.

Mills JD, Iyer AM, van Scheppingen J, Bongaarts A, Anink JJ, Janssen B, Zimmer TS, Spliet WG, van Rijen PC, Jansen FE, Feucht M, Hainfellner JA, Krsek P, Zamecnik J, Kotulska K, Jozwiak S, Jansen A, Lagae L, Curatolo P, Kwiatkowski DJ, Pasterkamp RJ, Senthilkumar K, von Oerthel L, Hoekman MF, Gorter JA, Crino PB, Mühlebner A, Scicluna BP, Aronica E.

Sci Rep. 2017 Aug 14;7(1):8089. doi: 10.1038/s41598-017-06145-8.

39.

Pharmacogenomic Markers of Targeted Therapy Toxicity in Patients with Metastatic Renal Cell Carcinoma.

de Velasco G, Gray KP, Hamieh L, Urun Y, Carol HA, Fay AP, Signoretti S, Kwiatkowski DJ, McDermott DF, Freedman M, Pomerantz MM, Choueiri TK.

Eur Urol Focus. 2016 Dec 15;2(6):633-639. doi: 10.1016/j.euf.2016.03.017. Epub 2016 Apr 23.

40.

Tuberin Regulates Prostaglandin Receptor-Mediated Viability, via Rheb, in mTORC1-Hyperactive Cells.

Li C, Liu X, Liu Y, Zhang E, Medepalli K, Masuda K, Li N, Wikenheiser-Brokamp KA, Osterburg A, Borchers MT, Kopras EJ, Plas DR, Sun J, Franz DN, Capal JK, Mays M, Sun Y, Kwiatkowski DJ, Alayev A, Holz MK, Krueger DA, Siroky BJ, Yu JJ.

Mol Cancer Res. 2017 Oct;15(10):1318-1330. doi: 10.1158/1541-7786.MCR-17-0077. Epub 2017 Jul 14.

41.

Apparent Sporadic Lymphangioleiomyomatosis in a Man as a Result of Extreme Mosaicism for a TSC2 Mutation.

Han MK, Tyburczy ME, Darling TN, Kazerooni EA, Myers JL, McCormack FX, Moss J, Kwiatkowski DJ.

Ann Am Thorac Soc. 2017 Jul;14(7):1227-1229. doi: 10.1513/AnnalsATS.201703-229LE. No abstract available.

42.

Erratum: Lkb1 inactivation drives lung cancer lineage switching governed by Polycomb Repressive Complex 2.

Zhang H, Brainson CF, Koyama S, Redig AJ, Chen T, Li S, Gupta M, Garcia-de-Alba C, Paschini M, Herter-Sprie GS, Lu G, Zhang X, Marsh BP, Tuminello SJ, Xu C, Chen Z, Wang X, Akbay EA, Zheng M, Palakurthi S, Sholl LM, Rustgi AK, Kwiatkowski DJ, Alan Diehl J, Bass AJ, Sharpless NE, Dranoff G, Hammerman PS, Ji H, Bardeesy N, Saur D, Watanabe H, Kim CF, Wong KK.

Nat Commun. 2017 Jun 9;8:15901. doi: 10.1038/ncomms15901.

43.

A Pan-Cancer Proteogenomic Atlas of PI3K/AKT/mTOR Pathway Alterations.

Zhang Y, Kwok-Shing Ng P, Kucherlapati M, Chen F, Liu Y, Tsang YH, de Velasco G, Jeong KJ, Akbani R, Hadjipanayis A, Pantazi A, Bristow CA, Lee E, Mahadeshwar HS, Tang J, Zhang J, Yang L, Seth S, Lee S, Ren X, Song X, Sun H, Seidman J, Luquette LJ, Xi R, Chin L, Protopopov A, Westbrook TF, Shelley CS, Choueiri TK, Ittmann M, Van Waes C, Weinstein JN, Liang H, Henske EP, Godwin AK, Park PJ, Kucherlapati R, Scott KL, Mills GB, Kwiatkowski DJ, Creighton CJ.

Cancer Cell. 2017 Jun 12;31(6):820-832.e3. doi: 10.1016/j.ccell.2017.04.013. Epub 2017 May 18.

44.

Lkb1 inactivation drives lung cancer lineage switching governed by Polycomb Repressive Complex 2.

Zhang H, Fillmore Brainson C, Koyama S, Redig AJ, Chen T, Li S, Gupta M, Garcia-de-Alba C, Paschini M, Herter-Sprie GS, Lu G, Zhang X, Marsh BP, Tuminello SJ, Xu C, Chen Z, Wang X, Akbay EA, Zheng M, Palakurthi S, Sholl LM, Rustgi AK, Kwiatkowski DJ, Diehl JA, Bass AJ, Sharpless NE, Dranoff G, Hammerman PS, Ji H, Bardeesy N, Saur D, Watanabe H, Kim CF, Wong KK.

Nat Commun. 2017 Apr 7;8:14922. doi: 10.1038/ncomms14922. Erratum in: Nat Commun. 2017 Jun 09;8:15901.

45.

Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation.

Cao J, Tyburczy ME, Moss J, Darling TN, Widlund HR, Kwiatkowski DJ.

J Clin Invest. 2017 Jan 3;127(1):349-364. doi: 10.1172/JCI84262. Epub 2016 Dec 5.

46.

Analysis of a Mouse Skin Model of Tuberous Sclerosis Complex.

Guo Y, Dreier JR, Cao J, Du H, Granter SR, Kwiatkowski DJ.

PLoS One. 2016 Dec 1;11(12):e0167384. doi: 10.1371/journal.pone.0167384. eCollection 2016.

47.

Institutional implementation of clinical tumor profiling on an unselected cancer population.

Sholl LM, Do K, Shivdasani P, Cerami E, Dubuc AM, Kuo FC, Garcia EP, Jia Y, Davineni P, Abo RP, Pugh TJ, van Hummelen P, Thorner AR, Ducar M, Berger AH, Nishino M, Janeway KA, Church A, Harris M, Ritterhouse LL, Campbell JD, Rojas-Rudilla V, Ligon AH, Ramkissoon S, Cleary JM, Matulonis U, Oxnard GR, Chao R, Tassell V, Christensen J, Hahn WC, Kantoff PW, Kwiatkowski DJ, Johnson BE, Meyerson M, Garraway LA, Shapiro GI, Rollins BJ, Lindeman NI, MacConaill LE.

JCI Insight. 2016 Nov 17;1(19):e87062. doi: 10.1172/jci.insight.87062.

48.

Pancreatic PEComa is a novel member of the family of tuberous sclerosis complex-associated tumors: case report and review of the literature.

Hartley CP, Kwiatkowski DJ, Hamieh L, Lefferts JA, Smith KD, Lisovsky M.

Virchows Arch. 2016 Dec;469(6):707-710. Epub 2016 Oct 18. Review. No abstract available.

PMID:
27757534
49.

Seizures in tuberous sclerosis complex: hitting the target.

Roach ES, Kwiatkowski DJ.

Lancet. 2016 Oct 29;388(10056):2062-2064. doi: 10.1016/S0140-6736(16)31576-8. Epub 2016 Sep 6. No abstract available.

PMID:
27613522
50.

Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.

Giannikou K, Malinowska IA, Pugh TJ, Yan R, Tseng YY, Oh C, Kim J, Tyburczy ME, Chekaluk Y, Liu Y, Alesi N, Finlay GA, Wu CL, Signoretti S, Meyerson M, Getz G, Boehm JS, Henske EP, Kwiatkowski DJ.

PLoS Genet. 2016 Aug 5;12(8):e1006242. doi: 10.1371/journal.pgen.1006242. eCollection 2016 Aug.

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