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Items: 1 to 50 of 256

1.

Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra.

Roy NBA, Zaal AI, Hall G, Wilkinson N, Proven M, McGowan S, Hipkiss R, Buckle V, Kavirayani A, Babbs C.

Rheumatology (Oxford). 2020 Feb 1;59(2):448-451. doi: 10.1093/rheumatology/kez317. No abstract available.

PMID:
31377798
2.

Robust CRISPR/Cas9 Genome Editing of the HUDEP-2 Erythroid Precursor Line Using Plasmids and Single-Stranded Oligonucleotide Donors.

Moir-Meyer G, Cheong PL, Olijnik AA, Brown J, Knight S, King A, Kurita R, Nakamura Y, Gibbons RJ, Higgs DR, Buckle VJ, Babbs C.

Methods Protoc. 2018 Jul 30;1(3). pii: E28. doi: 10.3390/mps1030028.

3.

The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I.

Roy NBA, Babbs C.

Br J Haematol. 2019 May;185(3):436-449. doi: 10.1111/bjh.15817. Epub 2019 Mar 5. Review.

4.

Characterizing and Modeling Bone Formation during Mouse Calvarial Development.

Marghoub A, Libby J, Babbs C, Ventikos Y, Fagan MJ, Moazen M.

Phys Rev Lett. 2019 Feb 1;122(4):048103. doi: 10.1103/PhysRevLett.122.048103.

PMID:
30768286
5.

A tissue-specific self-interacting chromatin domain forms independently of enhancer-promoter interactions.

Brown JM, Roberts NA, Graham B, Waithe D, Lagerholm C, Telenius JM, De Ornellas S, Oudelaar AM, Scott C, Szczerbal I, Babbs C, Kassouf MT, Hughes JR, Higgs DR, Buckle VJ.

Nat Commun. 2018 Sep 21;9(1):3849. doi: 10.1038/s41467-018-06248-4.

6.

Predicting calvarial growth in normal and craniosynostotic mice using a computational approach.

Marghoub A, Libby J, Babbs C, Pauws E, Fagan MJ, Moazen M.

J Anat. 2018 Mar;232(3):440-448. doi: 10.1111/joa.12764. Epub 2017 Dec 15.

PMID:
29243252
7.

The chromatin remodelling factor ATRX suppresses R-loops in transcribed telomeric repeats.

Nguyen DT, Voon HPJ, Xella B, Scott C, Clynes D, Babbs C, Ayyub H, Kerry J, Sharpe JA, Sloane-Stanley JA, Butler S, Fisher CA, Gray NE, Jenuwein T, Higgs DR, Gibbons RJ.

EMBO Rep. 2017 Jun;18(6):914-928. doi: 10.15252/embr.201643078. Epub 2017 May 9.

8.

An international registry of survivors with Hb Bart's hydrops fetalis syndrome.

Songdej D, Babbs C, Higgs DR; BHFS International Consortium.

Blood. 2017 Mar 9;129(10):1251-1259. doi: 10.1182/blood-2016-08-697110. Epub 2017 Jan 5. Review.

9.

A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.

Roy NB, Wilson EA, Henderson S, Wray K, Babbs C, Okoli S, Atoyebi W, Mixon A, Cahill MR, Carey P, Cullis J, Curtin J, Dreau H, Ferguson DJ, Gibson B, Hall G, Mason J, Morgan M, Proven M, Qureshi A, Sanchez Garcia J, Sirachainan N, Teo J, Tedgård U, Higgs D, Roberts D, Roberts I, Schuh A.

Br J Haematol. 2016 Oct;175(2):318-330. doi: 10.1111/bjh.14221. Epub 2016 Jul 19.

10.

Genetic dissection of the α-globin super-enhancer in vivo.

Hay D, Hughes JR, Babbs C, Davies JOJ, Graham BJ, Hanssen L, Kassouf MT, Marieke Oudelaar AM, Sharpe JA, Suciu MC, Telenius J, Williams R, Rode C, Li PS, Pennacchio LA, Sloane-Stanley JA, Ayyub H, Butler S, Sauka-Spengler T, Gibbons RJ, Smith AJH, Wood WG, Higgs DR.

Nat Genet. 2016 Aug;48(8):895-903. doi: 10.1038/ng.3605. Epub 2016 Jul 4.

11.

Predicting the three-dimensional folding of cis-regulatory regions in mammalian genomes using bioinformatic data and polymer models.

Brackley CA, Brown JM, Waithe D, Babbs C, Davies J, Hughes JR, Buckle VJ, Marenduzzo D.

Genome Biol. 2016 Mar 31;17:59. doi: 10.1186/s13059-016-0909-0.

12.

The origin of Korotkoff sounds and the accuracy of auscultatory blood pressure measurements.

Babbs CF.

J Am Soc Hypertens. 2015 Dec;9(12):935-50.e3. doi: 10.1016/j.jash.2015.09.011. Epub 2015 Sep 25.

PMID:
26553392
13.

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Taylor JC, Martin HC, Lise S, Broxholme J, Cazier JB, Rimmer A, Kanapin A, Lunter G, Fiddy S, Allan C, Aricescu AR, Attar M, Babbs C, Becq J, Beeson D, Bento C, Bignell P, Blair E, Buckle VJ, Bull K, Cais O, Cario H, Chapel H, Copley RR, Cornall R, Craft J, Dahan K, Davenport EE, Dendrou C, Devuyst O, Fenwick AL, Flint J, Fugger L, Gilbert RD, Goriely A, Green A, Greger IH, Grocock R, Gruszczyk AV, Hastings R, Hatton E, Higgs D, Hill A, Holmes C, Howard M, Hughes L, Humburg P, Johnson D, Karpe F, Kingsbury Z, Kini U, Knight JC, Krohn J, Lamble S, Langman C, Lonie L, Luck J, McCarthy D, McGowan SJ, McMullin MF, Miller KA, Murray L, Németh AH, Nesbit MA, Nutt D, Ormondroyd E, Oturai AB, Pagnamenta A, Patel SY, Percy M, Petousi N, Piazza P, Piret SE, Polanco-Echeverry G, Popitsch N, Powrie F, Pugh C, Quek L, Robbins PA, Robson K, Russo A, Sahgal N, van Schouwenburg PA, Schuh A, Silverman E, Simmons A, Sørensen PS, Sweeney E, Taylor J, Thakker RV, Tomlinson I, Trebes A, Twigg SR, Uhlig HH, Vyas P, Vyse T, Wall SA, Watkins H, Whyte MP, Witty L, Wright B, Yau C, Buck D, Humphray S, Ratcliffe PJ, Bell JI, Wilkie AO, Bentley D, Donnelly P, McVean G.

Nat Genet. 2015 Jul;47(7):717-726. doi: 10.1038/ng.3304. Epub 2015 May 18.

14.

Mechanical properties of calvarial bones in a mouse model for craniosynostosis.

Moazen M, Peskett E, Babbs C, Pauws E, Fagan MJ.

PLoS One. 2015 May 12;10(5):e0125757. doi: 10.1371/journal.pone.0125757. eCollection 2015.

15.

Choosing inclusion criteria that minimize the time and cost of clinical trials.

Babbs CF.

World J Methodol. 2014 Jun 26;4(2):109-22. doi: 10.5662/wjm.v4.i2.109. eCollection 2014 Jun 26.

16.
17.

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

Babbs C, Lloyd D, Pagnamenta AT, Twigg SR, Green J, McGowan SJ, Mirza G, Naples R, Sharma VP, Volpi EV, Buckle VJ, Wall SA, Knight SJ; International Molecular Genetic Study of Autism Consortium (IMGSAC), Parr JR, Wilkie AO.

J Med Genet. 2014 Nov;51(11):737-47. doi: 10.1136/jmedgenet-2014-102582. Epub 2014 Sep 16.

18.

A compact theory of magnetic nerve stimulation: predicting how to aim.

Babbs CF.

Biomed Eng Online. 2014 Apr 30;13:53. doi: 10.1186/1475-925X-13-53.

19.

Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression.

Viprakasit V, Ekwattanakit S, Riolueang S, Chalaow N, Fisher C, Lower K, Kanno H, Tachavanich K, Bejrachandra S, Saipin J, Juntharaniyom M, Sanpakit K, Tanphaichitr VS, Songdej D, Babbs C, Gibbons RJ, Philipsen S, Higgs DR.

Blood. 2014 Mar 6;123(10):1586-95. doi: 10.1182/blood-2013-09-526087. Epub 2014 Jan 17.

PMID:
24443441
20.

Subtle paranodal injury slows impulse conduction in a mathematical model of myelinated axons.

Babbs CF, Shi R.

PLoS One. 2013 Jul 3;8(7):e67767. doi: 10.1371/journal.pone.0067767. Print 2013.

21.

We still need a real-time hemodynamic monitor for CPR.

Babbs CF.

Resuscitation. 2013 Oct;84(10):1297-8. doi: 10.1016/j.resuscitation.2013.06.005. Epub 2013 Jun 18. No abstract available.

PMID:
23791810
22.

Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.

Babbs C, Roberts NA, Sanchez-Pulido L, McGowan SJ, Ahmed MR, Brown JM, Sabry MA; WGS500 Consortium, Bentley DR, McVean GA, Donnelly P, Gileadi O, Ponting CP, Higgs DR, Buckle VJ.

Haematologica. 2013 Sep;98(9):1383-7. doi: 10.3324/haematol.2013.089490. Epub 2013 May 28.

23.

Structured gastroenterological intervention and improved outcome for patients with chronic gastrointestinal symptoms following pelvic radiotherapy.

Henson CC, Davidson SE, Ang Y, Babbs C, Crampton J, Kelly M, Lal S, Limdi JK, Whatley G, Swindell R, Makin W, McLaughlin J.

Support Care Cancer. 2013 Aug;21(8):2255-65. doi: 10.1007/s00520-013-1782-y. Epub 2013 Mar 21.

PMID:
23512314
24.

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.

Twigg SR, Babbs C, van den Elzen ME, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis J, Sadighi Akha E, Knight SJ, Zechi-Ceide RM, Hoogeboom JA, Pober BR, Toriello HV, Wall SA, Rita Passos-Bueno M, Brunner HG, Mathijssen IM, Wilkie AO.

Hum Mol Genet. 2013 Apr 15;22(8):1654-62. doi: 10.1093/hmg/ddt015. Epub 2013 Jan 17.

25.
26.

Optimizing electrode placement for hemodynamic benefit in cardiac resynchronization therapy.

Babbs CF.

Pacing Clin Electrophysiol. 2012 Sep;35(9):1135-45. doi: 10.1111/j.1540-8159.2012.03454.x. Epub 2012 Jul 4.

PMID:
22762433
27.

Physical symptom reporting is associated with a tendency to experience somatosensory distortion.

Brown RJ, Skehan D, Chapman A, Perry EP, McKenzie KJ, Lloyd DM, Babbs C, Paine P, Poliakoff E.

Psychosom Med. 2012 Jul-Aug;74(6):648-55. doi: 10.1097/PSY.0b013e3182595358. Epub 2012 Jun 28.

PMID:
22753627
28.

Nprl3 is required for normal development of the cardiovascular system.

Kowalczyk MS, Hughes JR, Babbs C, Sanchez-Pulido L, Szumska D, Sharpe JA, Sloane-Stanley JA, Morriss-Kay GM, Smoot LB, Roberts AE, Watkins H, Bhattacharya S, Gibbons RJ, Ponting CP, Wood WG, Higgs DR.

Mamm Genome. 2012 Aug;23(7-8):404-15. doi: 10.1007/s00335-012-9398-y. Epub 2012 Apr 27.

PMID:
22538705
29.

Quantitative reappraisal of the helmholtz-guyton resonance theory of frequency tuning in the cochlea.

Babbs CF.

J Biophys. 2011;2011:435135. doi: 10.1155/2011/435135. Epub 2011 Oct 19.

30.

Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.

Babbs C, Stewart HS, Williams LJ, Connell L, Goriely A, Twigg SR, Smith K, Lester T, Wilkie AO.

Hum Mutat. 2011 Aug;32(8):930-8. doi: 10.1002/humu.21521. Epub 2011 Jul 12.

31.

A questionnaire study assessing overuse injuries in United Kingdom endoscopists and any effect from the introduction of the National Bowel Cancer Screening Program on these injuries.

Geraghty J, George R, Babbs C.

Gastrointest Endosc. 2011 May;73(5):1069-70. doi: 10.1016/j.gie.2010.11.011. No abstract available.

PMID:
21521575
32.
33.

Endoscopic mucosal resection of colorectal polyps in typical UK hospitals.

Lim TR, Mahesh V, Singh S, Tan BH, Elsadig M, Radhakrishnan N, Conlong P, Babbs C, George R.

World J Gastroenterol. 2010 Nov 14;16(42):5324-8.

34.

Behavior of a viscoelastic valveless pump: a simple theory with experimental validation.

Babbs CF.

Biomed Eng Online. 2010 Aug 31;9:42. doi: 10.1186/1475-925X-9-42.

35.

Evaluation of the Neonatal Resuscitation Program's recommended chest compression depth using computerized tomography imaging.

Meyer A, Nadkarni V, Pollock A, Babbs C, Nishisaki A, Braga M, Berg RA, Ades A.

Resuscitation. 2010 May;81(5):544-8. doi: 10.1016/j.resuscitation.2010.01.032. Epub 2010 Mar 12.

PMID:
20223576
36.

Anterior-posterior impedance cardiography: a new approach to accurate, non-invasive monitoring of cardiac function.

Babbs CF.

Cardiovasc Eng. 2010 Jun;10(2):52-65. doi: 10.1007/s10558-010-9094-z.

PMID:
20204513
37.

Percutaneous endoscopic gastrostomy and ventriculoperitoneal shunts: a dangerous combination?

Cairns A, Geraghty J, Al-Rifai A, Babbs C.

Dig Endosc. 2009 Oct;21(4):228-31. doi: 10.1111/j.1443-1661.2009.00897.x.

PMID:
19961520
38.

Challenges in diagnosing acute pancreatitis in renal transplant patients.

Taylor K, Sinha S, Cowie A, Babbs C, Reeve R, Kalra PA.

Clin Transplant. 2009 Nov-Dec;23(6):985-9. doi: 10.1111/j.1399-0012.2009.01088.x. Epub 2009 Sep 11.

PMID:
19744092
39.

Neonatal CPR: room at the top--a mathematical study of optimal chest compression frequency versus body size.

Babbs CF, Meyer A, Nadkarni V.

Resuscitation. 2009 Nov;80(11):1280-4. doi: 10.1016/j.resuscitation.2009.07.014. Epub 2009 Aug 27.

PMID:
19713026
40.

Methods for calculating coronary perfusion pressure during CPR.

Otlewski MP, Geddes LA, Pargett M, Babbs CF.

Cardiovasc Eng. 2009 Sep;9(3):98-103. doi: 10.1007/s10558-009-9079-y. Epub 2009 Aug 7.

PMID:
19662530
41.

Quantitative prediction of body surface potentials from myocardial action potentials using a summed dipole model.

Babbs CF.

Cardiovasc Eng. 2009 Jun;9(2):59-71. doi: 10.1007/s10558-009-9075-2. Epub 2009 Jun 20.

PMID:
19543975
42.

Small bowel angiodysplasia in a patient on haemodialysis: difficulties in diagnosis and management.

Sinha S, Williams JL, Eddington H, Chrysochou C, Lamerton E, Babbs C, Cowie A, Smithard DJ, Kalra PA.

BMJ Case Rep. 2009;2009. pii: bcr07.2008.0542. doi: 10.1136/bcr.07.2008.0542. Epub 2009 Mar 27.

43.

Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome.

Twigg SR, Healy C, Babbs C, Sharpe JA, Wood WG, Sharpe PT, Morriss-Kay GM, Wilkie AO.

Dev Dyn. 2009 Feb;238(2):331-42. doi: 10.1002/dvdy.21790.

44.

High expression of obesity-linked phosphatase SHIP2 in invasive breast cancer correlates with reduced disease-free survival.

Prasad NK, Tandon M, Handa A, Moore GE, Babbs CF, Snyder PW, Bose S.

Tumour Biol. 2008;29(5):330-41. doi: 10.1159/000172970. Epub 2008 Nov 15.

PMID:
19065064
45.

Topiramate-induced psychosis in two members of the one family: a case report.

José RJ, Cairns A, Babbs C.

J Med Case Rep. 2008 Jun 6;2:195. doi: 10.1186/1752-1947-2-195.

46.

Optimal control applied to a thoraco-abdominal CPR model.

Jung E, Lenhart S, Protopopescu V, Babbs C.

Math Med Biol. 2008 Jun;25(2):157-70. doi: 10.1093/imammb/dqn009. Epub 2008 May 29.

PMID:
18515260
47.

A new paradigm for human resuscitation research using intelligent devices.

Babbs CF, Kemeny AE, Quan W, Freeman G.

Resuscitation. 2008 Jun;77(3):306-15. doi: 10.1016/j.resuscitation.2007.12.018. Epub 2008 Mar 7.

PMID:
18329159
48.

Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog.

Babbs C, Furniss D, Morriss-Kay GM, Wilkie AO.

Mech Dev. 2008 May-Jun;125(5-6):517-26. doi: 10.1016/j.mod.2008.01.001. Epub 2008 Jan 11.

49.

A patient with impaired gastric motility.

Paine PA, Rees W, Babbs C, Shaffer JL, Armstrong G, Burnett H, Aziz Q.

Gut. 2007 Nov;56(11):1635-6. No abstract available.

50.

Sustained abdominal compression during CPR raises coronary perfusion pressures as much as vasopressor drugs.

Lottes AE, Rundell AE, Geddes LA, Kemeny AE, Otlewski MP, Babbs CF.

Resuscitation. 2007 Dec;75(3):515-24. Epub 2007 Jul 13.

PMID:
17630090

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