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Items: 1 to 20 of 310

1.

Shifting patterns of genomic variation in the somatic evolution of papillary thyroid carcinoma.

Rubinstein JC, Brown TC, Christison-Lagay ER, Zhang Y, Kunstman JW, Juhlin CC, Nelson-Williams C, Goh G, Quinn CE, Callender GG, Udelsman R, Lifton RP, Korah R, Carling T.

BMC Cancer. 2016 Aug 18;16:646. doi: 10.1186/s12885-016-2665-7.

PMID:
27538953
Free PMC Article
2.

Regression of chemotherapy-resistant Polymerase epsilon (POLE) ultra-mutated and MSH6 hyper-mutated endometrial tumors with nivolumab.

Santin AD, Bellone S, Buza N, Choi J, Schwartz PE, Schlessinger J, Lifton RP.

Clin Cancer Res. 2016 Aug 2. pii: clincanres.1031.2016. [Epub ahead of print]

PMID:
27486176
3.

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

Adam R, Spier I, Zhao B, Kloth M, Marquez J, Hinrichsen I, Kirfel J, Tafazzoli A, Horpaopan S, Uhlhaas S, Stienen D, Friedrichs N, Altmüller J, Laner A, Holzapfel S, Peters S, Kayser K, Thiele H, Holinski-Feder E, Marra G, Kristiansen G, Nöthen MM, Büttner R, Möslein G, Betz RC, Brieger A, Lifton RP, Aretz S.

Am J Hum Genet. 2016 Aug 4;99(2):337-51. doi: 10.1016/j.ajhg.2016.06.015. Epub 2016 Jul 28.

PMID:
27476653
4.

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Madeo M, Stewart M, Sun Y, Sahir N, Wiethoff S, Chandrasekar I, Yarrow A, Rosenfeld JA, Yang Y, Cordeiro D, McCormick EM, Muraresku CC, Jepperson TN, McBeth LJ, Seidahmed MZ, El Khashab HY, Hamad M, Azzedine H, Clark K, Corrochano S, Wells S, Elting MW, Weiss MM, Burn S, Myers A, Landsverk M, Crotwell PL, Waisfisz Q, Wolf NI, Nolan PM, Padilla-Lopez S, Houlden H, Lifton R, Mane S, Singh BB, Falk MJ, Mercimek-Mahmutoglu S, Bilguvar K, Salih MA, Acevedo-Arozena A, Kruer MC.

Am J Hum Genet. 2016 Jun 2;98(6):1249-55. doi: 10.1016/j.ajhg.2016.04.008. Epub 2016 May 26.

PMID:
27236917
5.

Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.

Li N, Subrahmanyan L, Smith E, Yu X, Zaidi S, Choi M, Mane S, Nelson-Williams C, Bahjati M, Kazemi M, Hashemi M, Fathzadeh M, Narayanan A, Tian L, Montazeri F, Mani M, Begleiter ML, Coon BG, Lynch HT, Olson EN, Zhao H, Ruland J, Lifton RP, Mani A.

Am J Hum Genet. 2016 Jun 2;98(6):1082-91. doi: 10.1016/j.ajhg.2016.03.022. Epub 2016 May 12.

PMID:
27181681
6.

De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.

Priest JR, Osoegawa K, Mohammed N, Nanda V, Kundu R, Schultz K, Lammer EJ, Girirajan S, Scheetz T, Waggott D, Haddad F, Reddy S, Bernstein D, Burns T, Steimle JD, Yang XH, Moskowitz IP, Hurles M, Lifton RP, Nickerson D, Bamshad M, Eichler EE, Mital S, Sheffield V, Quertermous T, Gelb BD, Portman M, Ashley EA.

PLoS Genet. 2016 Apr 8;12(4):e1005963. doi: 10.1371/journal.pgen.1005963. eCollection 2016 Apr.

7.

Genetic landscape of metastatic and recurrent head and neck squamous cell carcinoma.

Hedberg ML, Goh G, Chiosea SI, Bauman JE, Freilino ML, Zeng Y, Wang L, Diergaarde BB, Gooding WE, Lui VW, Herbst RS, Lifton RP, Grandis JR.

J Clin Invest. 2016 Apr 1;126(4):1606. doi: 10.1172/JCI86862. Epub 2016 Apr 1. No abstract available.

8.

FAT1 mutations cause a glomerulotubular nephropathy.

Gee HY, Sadowski CE, Aggarwal PK, Porath JD, Yakulov TA, Schueler M, Lovric S, Ashraf S, Braun DA, Halbritter J, Fang H, Airik R, Vega-Warner V, Cho KJ, Chan TA, Morris LG, ffrench-Constant C, Allen N, McNeill H, Büscher R, Kyrieleis H, Wallot M, Gaspert A, Kistler T, Milford DV, Saleem MA, Keng WT, Alexander SI, Valentini RP, Licht C, Teh JC, Bogdanovic R, Koziell A, Bierzynska A, Soliman NA, Otto EA, Lifton RP, Holzman LB, Sibinga NE, Walz G, Tufro A, Hildebrandt F.

Nat Commun. 2016 Feb 24;7:10822. doi: 10.1038/ncomms10822.

9.

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.

Braun DA, Sadowski CE, Kohl S, Lovric S, Astrinidis SA, Pabst WL, Gee HY, Ashraf S, Lawson JA, Shril S, Airik M, Tan W, Schapiro D, Rao J, Choi WI, Hermle T, Kemper MJ, Pohl M, Ozaltin F, Konrad M, Bogdanovic R, Büscher R, Helmchen U, Serdaroglu E, Lifton RP, Antonin W, Hildebrandt F.

Nat Genet. 2016 Apr;48(4):457-65. doi: 10.1038/ng.3512. Epub 2016 Feb 15.

10.

Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension.

Vilarinho S, Sari S, Yilmaz G, Stiegler AL, Boggon TJ, Jain D, Akyol G, Dalgic B, Günel M, Lifton RP.

Hepatology. 2016 Jun;63(6):1977-86. doi: 10.1002/hep.28499. Epub 2016 Mar 31.

PMID:
26874653
11.

Genomic characterization of sarcomatoid transformation in clear cell renal cell carcinoma.

Bi M, Zhao S, Said JW, Merino MJ, Adeniran AJ, Xie Z, Nawaf CB, Choi J, Belldegrun AS, Pantuck AJ, Kluger HM, Bilgüvar K, Lifton RP, Shuch B.

Proc Natl Acad Sci U S A. 2016 Feb 23;113(8):2170-5. doi: 10.1073/pnas.1525735113. Epub 2016 Feb 10.

12.

Early and multiple origins of metastatic lineages within primary tumors.

Zhao ZM, Zhao B, Bai Y, Iamarino A, Gaffney SG, Schlessinger J, Lifton RP, Rimm DL, Townsend JP.

Proc Natl Acad Sci U S A. 2016 Feb 23;113(8):2140-5. doi: 10.1073/pnas.1525677113. Epub 2016 Feb 8.

13.

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter GA Jr, Kim R, Bilguvar K, López-Giráldez F, Tikhonova I, Mane S, Romano-Adesman A, Qi H, Vardarajan B, Ma L, Daly M, Roberts AE, Russell MW, Mital S, Newburger JW, Gaynor JW, Breitbart RE, Iossifov I, Ronemus M, Sanders SJ, Kaltman JR, Seidman JG, Brueckner M, Gelb BD, Goldmuntz E, Lifton RP, Seidman CE, Chung WK.

Science. 2015 Dec 4;350(6265):1262-6. doi: 10.1126/science.aac9396.

14.

Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.

Spier I, Kerick M, Drichel D, Horpaopan S, Altmüller J, Laner A, Holzapfel S, Peters S, Adam R, Zhao B, Becker T, Lifton RP, Holinski-Feder E, Perner S, Thiele H, Nöthen MM, Hoffmann P, Timmermann B, Schweiger MR, Aretz S.

Fam Cancer. 2016 Apr;15(2):281-8. doi: 10.1007/s10689-016-9870-z.

PMID:
26780541
15.

Identification of a gain-of-function STAT3 mutation (p.Y640F) in lymphocytic variant hypereosinophilic syndrome.

Walker S, Wang C, Walradt T, Hong BS, Tanner JR, Levinsohn JL, Goh G, Subtil A, Lessin SR, Heymann WR, Vonderheid EC, King BA, Lifton RP, Choi J.

Blood. 2016 Feb 18;127(7):948-51. doi: 10.1182/blood-2015-06-654277. Epub 2015 Dec 23. No abstract available.

16.

Mutational landscape of MCPyV-positive and MCPyV-negative Merkel cell carcinomas with implications for immunotherapy.

Goh G, Walradt T, Markarov V, Blom A, Riaz N, Doumani R, Stafstrom K, Moshiri A, Yelistratova L, Levinsohn J, Chan TA, Nghiem P, Lifton RP, Choi J.

Oncotarget. 2016 Jan 19;7(3):3403-15. doi: 10.18632/oncotarget.6494.

17.

Genetic landscape of metastatic and recurrent head and neck squamous cell carcinoma.

Hedberg ML, Goh G, Chiosea SI, Bauman JE, Freilino ML, Zeng Y, Wang L, Diergaarde BB, Gooding WE, Lui VW, Herbst RS, Lifton RP, Grandis JR.

J Clin Invest. 2016 Jan;126(1):169-80. doi: 10.1172/JCI82066. Epub 2015 Nov 30. Erratum in: J Clin Invest. 2016 Apr 1;126(4):1606.

18.

Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.

Spier I, Drichel D, Kerick M, Kirfel J, Horpaopan S, Laner A, Holzapfel S, Peters S, Adam R, Zhao B, Becker T, Lifton RP, Perner S, Hoffmann P, Kristiansen G, Timmermann B, Nöthen MM, Holinski-Feder E, Schweiger MR, Aretz S.

J Med Genet. 2016 Mar;53(3):172-9. doi: 10.1136/jmedgenet-2015-103468. Epub 2015 Nov 27.

PMID:
26613750
19.

Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.

Boyden LM, Kam CY, Hernández-Martín A, Zhou J, Craiglow BG, Sidbury R, Mathes EF, Maguiness SM, Crumrine DA, Williams ML, Hu R, Lifton RP, Elias PM, Green KJ, Choate KA.

Hum Mol Genet. 2016 Jan 15;25(2):348-57. doi: 10.1093/hmg/ddv481. Epub 2015 Nov 24.

PMID:
26604139
20.

Genes and environment in neonatal intraventricular hemorrhage.

Ment LR, Ådén U, Bauer CR, Bada HS, Carlo WA, Kaiser JR, Lin A, Cotten CM, Murray J, Page G, Hallman M, Lifton RP, Zhang H; Gene Targets for IVH Study Group and the Neonatal Research Network.

Semin Perinatol. 2015 Dec;39(8):592-603. doi: 10.1053/j.semperi.2015.09.006. Epub 2015 Oct 26. Review.

PMID:
26516117
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