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Items: 1 to 50 of 327

1.

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.

Kim J, Hu C, Moufawad El Achkar C, Black LE, Douville J, Larson A, Pendergast MK, Goldkind SF, Lee EA, Kuniholm A, Soucy A, Vaze J, Belur NR, Fredriksen K, Stojkovska I, Tsytsykova A, Armant M, DiDonato RL, Choi J, Cornelissen L, Pereira LM, Augustine EF, Genetti CA, Dies K, Barton B, Williams L, Goodlett BD, Riley BL, Pasternak A, Berry ER, Pflock KA, Chu S, Reed C, Tyndall K, Agrawal PB, Beggs AH, Grant PE, Urion DK, Snyder RO, Waisbren SE, Poduri A, Park PJ, Patterson A, Biffi A, Mazzulli JR, Bodamer O, Berde CB, Yu TW.

N Engl J Med. 2019 Oct 9. doi: 10.1056/NEJMoa1813279. [Epub ahead of print]

PMID:
31597037
2.

Meta-analysis of prognostic factors for patients with colorectal peritoneal metastasis undergoing cytoreductive surgery and heated intraperitoneal chemotherapy.

Hallam S, Tyler R, Price M, Beggs A, Youssef H.

BJS Open. 2019 Jun 27;3(5):585-594. doi: 10.1002/bjs5.50179. eCollection 2019 Oct. Review.

3.

Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratification.

Kleeman SO, Koelzer VH, Jones HJ, Vazquez EG, Davis H, East JE, Arnold R, Koppens MA, Blake A, Domingo E, Cunningham C, Beggs AD, Pestinger V, Loughrey MB, Wang LM, Lannagan TR, Woods SL, Worthley D, Consortium SC, Tomlinson I, Dunne PD, Maughan T, Leedham SJ.

Gut. 2019 Sep 28. pii: gutjnl-2019-319126. doi: 10.1136/gutjnl-2019-319126. [Epub ahead of print]

4.

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.

Graham RJ, Muntoni F, Hughes I, Yum SW, Kuntz NL, Yang ML, Byrne BJ, Prasad S, Alvarez R, Genetti CA, Haselkorn T, James ES, LaRusso LB, Noursalehi M, Rico S, Beggs AH.

Arch Dis Child. 2019 Sep 4. pii: archdischild-2019-317910. doi: 10.1136/archdischild-2019-317910. [Epub ahead of print]

PMID:
31484632
5.

The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system.

Mandl KD, Glauser T, Krantz ID, Avillach P, Bartels A, Beggs AH, Biswas S, Bourgeois FT, Corsmo J, Dauber A, Devkota B, Fleisher GR, Heath AP, Helbig I, Hirschhorn JN, Kilbourn J, Kong SW, Kornetsky S, Majzoub JA, Marsolo K, Martin LJ, Nix J, Schwarzhoff A, Stedman J, Strauss A, Sund KL, Taylor DM, White PS; Genomics Research and Innovation Network.

Genet Med. 2019 Sep 4. doi: 10.1038/s41436-019-0646-3. [Epub ahead of print]

PMID:
31481752
6.

Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens.

Widrick JJ, Kawahara G, Alexander MS, Beggs AH, Kunkel LM.

J Neuromuscul Dis. 2019;6(3):271-287. doi: 10.3233/JND-190389.

PMID:
31282429
7.

Utility of surgeon-performed pre-operative ultrasound in the localisation of parathyroid adenomas.

Thomas PR, Beggs AD, Han TS.

JRSM Cardiovasc Dis. 2019 Jun 19;8:2048004019856950. doi: 10.1177/2048004019856949. eCollection 2019 Jan-Dec.

8.

Mechanisms of immunogenicity in colorectal cancer.

Sillo TO, Beggs AD, Morton DG, Middleton G.

Br J Surg. 2019 Sep;106(10):1283-1297. doi: 10.1002/bjs.11204. Epub 2019 Jun 19. Review.

9.

Development and Validation of a Combined Hypoxia and Immune Prognostic Classifier for Head and Neck Cancer.

Brooks JM, Menezes AN, Ibrahim M, Archer L, Lal N, Bagnall CJ, von Zeidler SV, Valentine HR, Spruce RJ, Batis N, Bryant JL, Hartley M, Kaul B, Ryan GB, Bao R, Khattri A, Lee SP, Ogbureke KUE, Middleton G, Tennant DA, Beggs AD, Deeks J, West CML, Cazier JB, Willcox BE, Seiwert TY, Mehanna H.

Clin Cancer Res. 2019 Sep 1;25(17):5315-5328. doi: 10.1158/1078-0432.CCR-18-3314. Epub 2019 Jun 10.

PMID:
31182433
10.

MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing.

Marttila M, Win W, Al-Ghamdi F, Abdel-Hamid HZ, Lacomis D, Beggs AH.

Cold Spring Harb Mol Case Stud. 2019 Aug 1;5(4). pii: a004184. doi: 10.1101/mcs.a004184. Print 2019 Aug.

11.

Targeted deep sequencing of urothelial bladder cancers and associated urinary DNA: a 23-gene panel with utility for non-invasive diagnosis and risk stratification.

Ward DG, Gordon NS, Boucher RH, Pirrie SJ, Baxter L, Ott S, Silcock L, Whalley CM, Stockton JD, Beggs AD, Griffiths M, Abbotts B, Ijakipour H, Latheef FN, Robinson RA, White AJ, James ND, Zeegers MP, Cheng KK, Bryan RT.

BJU Int. 2019 Sep;124(3):532-544. doi: 10.1111/bju.14808. Epub 2019 Jun 19.

12.

MicroRNA changes in maternal serum from pregnancies complicated by twin-twin transfusion syndrome: A discovery study.

Mackie FL, Baker BC, Beggs AD, Stodolna A, Morris RK, Kilby MD.

Prenat Diagn. 2019 Jul;39(8):616-634. doi: 10.1002/pd.5475. Epub 2019 Jun 18.

13.

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.

Schmitz-Abe K, Li Q, Rosen SM, Nori N, Madden JA, Genetti CA, Wojcik MH, Ponnaluri S, Gubbels CS, Picker JD, O'Donnell-Luria AH, Yu TW, Bodamer O, Brownstein CA, Beggs AH, Agrawal PB.

Eur J Hum Genet. 2019 Sep;27(9):1398-1405. doi: 10.1038/s41431-019-0401-x. Epub 2019 Apr 12.

PMID:
30979967
14.

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.

Bachmann C, Noreen F, Voermans NC, Schär PL, Vissing J, Fock JM, Bulk S, Kusters B, Moore SA, Beggs AH, Mathews KD, Meyer M, Genetti CA, Meola G, Cardani R, Mathews E, Jungbluth H, Muntoni F, Zorzato F, Treves S.

Hum Mutat. 2019 Jul;40(7):962-974. doi: 10.1002/humu.23745. Epub 2019 Apr 1.

PMID:
30932294
15.

The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution.

Taylor DM, Aronow BJ, Tan K, Bernt K, Salomonis N, Greene CS, Frolova A, Henrickson SE, Wells A, Pei L, Jaiswal JK, Whitsett J, Hamilton KE, MacParland SA, Kelsen J, Heuckeroth RO, Potter SS, Vella LA, Terry NA, Ghanem LR, Kennedy BC, Helbig I, Sullivan KE, Castelo-Soccio L, Kreigstein A, Herse F, Nawijn MC, Koppelman GH, Haendel M, Harris NL, Rokita JL, Zhang Y, Regev A, Rozenblatt-Rosen O, Rood JE, Tickle TL, Vento-Tormo R, Alimohamed S, Lek M, Mar JC, Loomes KM, Barrett DM, Uapinyoying P, Beggs AH, Agrawal PB, Chen YW, Muir AB, Garmire LX, Snapper SB, Nazarian J, Seeholzer SH, Fazelinia H, Singh LN, Faryabi RB, Raman P, Dawany N, Xie HM, Devkota B, Diskin SJ, Anderson SA, Rappaport EF, Peranteau W, Wikenheiser-Brokamp KA, Teichmann S, Wallace D, Peng T, Ding YY, Kim MS, Xing Y, Kong SW, Bönnemann CG, Mandl KD, White PS.

Dev Cell. 2019 Apr 8;49(1):10-29. doi: 10.1016/j.devcel.2019.03.001. Epub 2019 Mar 28. Review.

16.

The Safety and Tolerability of a Potential Alginate-Based Iron Chelator; Results of A Healthy Participant Study.

Horniblow RD, Mistry P, Quraishi MN, Beggs AD, Van de Wiele T, Iqbal TH, Tselepis C.

Nutrients. 2019 Mar 21;11(3). pii: E674. doi: 10.3390/nu11030674.

17.

The Genetic Landscape of Diamond-Blackfan Anemia.

Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT.

Am J Hum Genet. 2019 Feb 7;104(2):356. doi: 10.1016/j.ajhg.2018.12.011. No abstract available.

18.

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.

Ceyhan-Birsoy O, Murry JB, Machini K, Lebo MS, Yu TW, Fayer S, Genetti CA, Schwartz TS, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Rehm HL, Beggs AH; BabySeq Project Team.

Am J Hum Genet. 2019 Jan 3;104(1):76-93. doi: 10.1016/j.ajhg.2018.11.016.

19.

Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project.

Holm IA, McGuire A, Pereira S, Rehm H, Green RC, Beggs AH; BabySeq Project Team.

Pediatrics. 2019 Jan;143(Suppl 1):S37-S43. doi: 10.1542/peds.2018-1099H.

20.

Challenging the Current Recommendations for Carrier Testing in Children.

VanNoy GE, Genetti CA, McGuire AL, Green RC, Beggs AH, Holm IA; BabySeq Project Group.

Pediatrics. 2019 Jan;143(Suppl 1):S27-S32. doi: 10.1542/peds.2018-1099F.

21.

Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project.

Pereira S, Robinson JO, Gutierrez AM, Petersen DK, Hsu RL, Lee CH, Schwartz TS, Holm IA, Beggs AH, Green RC, McGuire AL; BabySeq Project Group.

Pediatrics. 2019 Jan;143(Suppl 1):S6-S13. doi: 10.1542/peds.2018-1099C.

22.

Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.

Gartner V, Markello TC, Macnamara E, De Biase A, Thurm A, Joseph L, Beggs A, Schmahmann JD, Berry GT, Anselm I, Boslet E, Tifft CJ, Gahl WA, Lee PR.

Am J Med Genet A. 2018 Dec;176(12):2768-2776. doi: 10.1002/ajmg.a.40628. Epub 2018 Dec 11.

PMID:
30548380
23.

The Genetic Landscape of Diamond-Blackfan Anemia.

Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT.

Am J Hum Genet. 2018 Dec 6;103(6):930-947. doi: 10.1016/j.ajhg.2018.10.027. Epub 2018 Nov 29. Erratum in: Am J Hum Genet. 2019 Feb 7;104(2):356.

24.

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.

Deisseroth CA, Birgmeier J, Bodle EE, Kohler JN, Matalon DR, Nazarenko Y, Genetti CA, Brownstein CA, Schmitz-Abe K, Schoch K, Cope H, Signer R; Undiagnosed Diseases Network, Martinez-Agosto JA, Shashi V, Beggs AH, Wheeler MT, Bernstein JA, Bejerano G.

Genet Med. 2019 Jul;21(7):1585-1593. doi: 10.1038/s41436-018-0381-1. Epub 2018 Dec 5.

25.

Validation of epigenetic markers to identify colitis associated cancer: Results of module 1 of the ENDCAP-C study.

Beggs AD, Mehta S, Deeks JJ, James JD, Caldwell GM, Dilworth MP, Stockton JD, Blakeway D, Pestinger V, Vince A, Taniere P, Iqbal T, Magill L, Matthews G, Morton DG; ENDCAP-C Module 1 Collaborative.

EBioMedicine. 2019 Jan;39:265-271. doi: 10.1016/j.ebiom.2018.11.034. Epub 2018 Nov 22.

26.

De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report.

Mavros CF, Brownstein CA, Thyagrajan R, Genetti CA, Tembulkar S, Graber K, Murphy Q, Cabral K, VanNoy GE, Bainbridge M, Shi J, Agrawal PB, Beggs AH, D'Angelo E, Gonzalez-Heydrich J.

BMC Med Genet. 2018 Nov 13;19(1):197. doi: 10.1186/s12881-018-0711-9.

27.

Subtype-specific regulatory network rewiring in acute myeloid leukemia.

Assi SA, Imperato MR, Coleman DJL, Pickin A, Potluri S, Ptasinska A, Chin PS, Blair H, Cauchy P, James SR, Zacarias-Cabeza J, Gilding LN, Beggs A, Clokie S, Loke JC, Jenkin P, Uddin A, Delwel R, Richards SJ, Raghavan M, Griffiths MJ, Heidenreich O, Cockerill PN, Bonifer C.

Nat Genet. 2019 Jan;51(1):151-162. doi: 10.1038/s41588-018-0270-1. Epub 2018 Nov 12.

28.

Disruption of CTCF-YY1-dependent looping of the human papillomavirus genome activates differentiation-induced viral oncogene transcription.

Pentland I, Campos-León K, Cotic M, Davies KJ, Wood CD, Groves IJ, Burley M, Coleman N, Stockton JD, Noyvert B, Beggs AD, West MJ, Roberts S, Parish JL.

PLoS Biol. 2018 Oct 25;16(10):e2005752. doi: 10.1371/journal.pbio.2005752. eCollection 2018 Oct.

29.

Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project.

Genetti CA, Schwartz TS, Robinson JO, VanNoy GE, Petersen D, Pereira S, Fayer S, Peoples HA, Agrawal PB, Betting WN, Holm IA, McGuire AL, Waisbren SE, Yu TW, Green RC, Beggs AH, Parad RB; BabySeq Project Team.

Genet Med. 2019 Mar;21(3):622-630. doi: 10.1038/s41436-018-0105-6. Epub 2018 Sep 13.

30.

The BabySeq project: implementing genomic sequencing in newborns.

Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, McGuire AL, Parad RB, Park PJ, Pereira S, Rehm HL, Schwartz TS, Waisbren SE, Yu TW; BabySeq Project Team, Green RC, Beggs AH.

BMC Pediatr. 2018 Jul 9;18(1):225. doi: 10.1186/s12887-018-1200-1.

31.

A systematic review of epigenetic biomarkers in progression from non-dysplastic Barrett's oesophagus to oesophageal adenocarcinoma.

Nieto T, Tomlinson CL, Dretzke J, Bayliss S, Price MJ, Dilworth M, Beggs AD, Tucker O.

BMJ Open. 2018 Jun 30;8(6):e020427. doi: 10.1136/bmjopen-2017-020427.

32.

Expanding the phenotypic spectrum associated with OPHN1 variants.

Schwartz TS, Wojcik MH, Pelletier RC, Edward HL, Picker JD, Holm IA, Towne MC, Beggs AH, Agrawal PB.

Eur J Med Genet. 2019 Feb;62(2):137-143. doi: 10.1016/j.ejmg.2018.06.015. Epub 2018 Jun 28.

PMID:
29960046
33.

An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish.

Widrick JJ, Gibbs DE, Sanchez B, Gupta VA, Pakula A, Lawrence C, Beggs AH, Kunkel LM.

PLoS One. 2018 Jun 26;13(6):e0199712. doi: 10.1371/journal.pone.0199712. eCollection 2018.

34.

De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.

Torres A, Brownstein CA, Tembulkar SK, Graber K, Genetti C, Kleiman RJ, Sweadner KJ, Mavros C, Liu KX, Smedemark-Margulies N, Maski K, Yang E, Agrawal PB, Shi J, Beggs AH, D'Angelo E, Lincoln SH, Carroll D, Dedeoglu F, Gahl WA, Biggs CM, Swoboda KJ, Berry GT, Gonzalez-Heydrich J.

Mol Genet Metab Rep. 2018 Jun 15;16:23-29. doi: 10.1016/j.ymgmr.2018.06.001. eCollection 2018 Sep.

35.

Metabolic therapy with PEG-arginase induces a sustained complete remission in immunotherapy-resistant melanoma.

De Santo C, Cheng P, Beggs A, Egan S, Bessudo A, Mussai F.

J Hematol Oncol. 2018 May 18;11(1):68. doi: 10.1186/s13045-018-0612-6.

36.

Discovery and Validation of Methylation Biomarkers for Ulcerative Colitis Associated Neoplasia.

Beggs AD, James J, Caldwell G, Prout T, Dilworth MP, Taniere P, Iqbal T, Morton DG, Matthews G.

Inflamm Bowel Dis. 2018 Jun 8;24(7):1503-1509. doi: 10.1093/ibd/izy119.

37.

Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report.

Murry JB, Machini K, Ceyhan-Birsoy O, Kritzer A, Krier JB, Lebo MS, Fayer S, Genetti CA, VanNoy GE, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Beggs AH, Rehm HL; BabySeq Project Team.

Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4). pii: a002873. doi: 10.1101/mcs.a002873. Print 2018 Aug.

38.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG.

Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241.

39.

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

Temko D, Van Gool IC, Rayner E, Glaire M, Makino S, Brown M, Chegwidden L, Palles C, Depreeuw J, Beggs A, Stathopoulou C, Mason J, Baker AM, Williams M, Cerundolo V, Rei M, Taylor JC, Schuh A, Ahmed A, Amant F, Lambrechts D, Smit VT, Bosse T, Graham TA, Church DN, Tomlinson I.

J Pathol. 2018 Jul;245(3):283-296. doi: 10.1002/path.5081. Epub 2018 Apr 30.

40.

Circulating tumor DNA as a biomarker and liquid biopsy in head and neck squamous cell carcinoma.

Payne K, Spruce R, Beggs A, Sharma N, Kong A, Martin T, Parmar S, Praveen P, Nankivell P, Mehanna H.

Head Neck. 2018 Jul;40(7):1598-1604. doi: 10.1002/hed.25140. Epub 2018 Mar 15. Review.

PMID:
29542214
41.

Sarcomeric and nonmuscle α-actinin isoforms exhibit differential dynamics at skeletal muscle Z-lines.

Hsu CP, Moghadaszadeh B, Hartwig JH, Beggs AH.

Cytoskeleton (Hoboken). 2018 May;75(5):213-228. doi: 10.1002/cm.21442. Epub 2018 Apr 1.

42.

RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes.

Bennett AH, O'Donohue MF, Gundry SR, Chan AT, Widrick J, Draper I, Chakraborty A, Zhou Y, Zon LI, Gleizes PE, Beggs AH, Gupta VA.

PLoS Genet. 2018 Mar 8;14(3):e1007226. doi: 10.1371/journal.pgen.1007226. eCollection 2018 Mar.

43.

SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling.

Huntoon V, Widrick JJ, Sanchez C, Rosen SM, Kutchukian C, Cao S, Pierson CR, Liu X, Perrella MA, Beggs AH, Jacquemond V, Agrawal PB.

Hum Mol Genet. 2018 May 1;27(9):1608-1617. doi: 10.1093/hmg/ddy068.

44.

Nanopore sequencing and assembly of a human genome with ultra-long reads.

Jain M, Koren S, Miga KH, Quick J, Rand AC, Sasani TA, Tyson JR, Beggs AD, Dilthey AT, Fiddes IT, Malla S, Marriott H, Nieto T, O'Grady J, Olsen HE, Pedersen BS, Rhie A, Richardson H, Quinlan AR, Snutch TP, Tee L, Paten B, Phillippy AM, Simpson JT, Loman NJ, Loose M.

Nat Biotechnol. 2018 Apr;36(4):338-345. doi: 10.1038/nbt.4060. Epub 2018 Jan 29.

45.

Whole Genome Methylation Analysis of Nondysplastic Barrett Esophagus that Progresses to Invasive Cancer.

Dilworth MP, Nieto T, Stockton JD, Whalley CM, Tee L, James JD, Noble F, Underwood TJ, Hallissey MT, Hejmadi R, Trudgill N, Tucker O, Beggs AD.

Ann Surg. 2019 Mar;269(3):479-485. doi: 10.1097/SLA.0000000000002658.

46.

Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).

Joureau B, de Winter JM, Conijn S, Bogaards SJP, Kovacevic I, Kalganov A, Persson M, Lindqvist J, Stienen GJM, Irving TC, Ma W, Yuen M, Clarke NF, Rassier DE, Malfatti E, Romero NB, Beggs AH, Ottenheijm CAC.

Ann Neurol. 2018 Feb;83(2):269-282. doi: 10.1002/ana.25144. Epub 2018 Feb 6.

47.

Robust RNA-based in situ mutation detection delineates colorectal cancer subclonal evolution.

Baker AM, Huang W, Wang XM, Jansen M, Ma XJ, Kim J, Anderson CM, Wu X, Pan L, Su N, Luo Y, Domingo E, Heide T, Sottoriva A, Lewis A, Beggs AD, Wright NA, Rodriguez-Justo M, Park E, Tomlinson I, Graham TA.

Nat Commun. 2017 Dec 8;8(1):1998. doi: 10.1038/s41467-017-02295-5.

48.

The arginine metabolome in acute lymphoblastic leukemia can be targeted by the pegylated-recombinant arginase I BCT-100.

De Santo C, Booth S, Vardon A, Cousins A, Tubb V, Perry T, Noyvert B, Beggs A, Ng M, Halsey C, Kearns P, Cheng P, Mussai F.

Int J Cancer. 2018 Apr 1;142(7):1490-1502. doi: 10.1002/ijc.31170. Epub 2017 Dec 26.

49.

A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.

Beggs AH, Byrne BJ, De Chastonay S, Haselkorn T, Hughes I, James ES, Kuntz NL, Simon J, Swanson LC, Yang ML, Yu ZF, Yum SW, Prasad S.

Muscle Nerve. 2018 Apr;57(4):550-560. doi: 10.1002/mus.26018. Epub 2017 Dec 22.

50.

KRAS Mutation and Consensus Molecular Subtypes 2 and 3 Are Independently Associated with Reduced Immune Infiltration and Reactivity in Colorectal Cancer.

Lal N, White BS, Goussous G, Pickles O, Mason MJ, Beggs AD, Taniere P, Willcox BE, Guinney J, Middleton GW.

Clin Cancer Res. 2018 Jan 1;24(1):224-233. doi: 10.1158/1078-0432.CCR-17-1090. Epub 2017 Oct 23.

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