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Items: 1 to 50 of 102

1.

A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.

Rautengarten C, Quarrell OW, Stals K, Caswell R, De Franco E, Baple E, Burgess N, Jokhi R, Heazlewood JL, Offiah AC, Ebert B, Ellard S.

Hum Mol Genet. 2019 Aug 19. pii: ddz200. doi: 10.1093/hmg/ddz200. [Epub ahead of print]

PMID:
31423530
2.

Measuring experience and outcomes in patients reporting sexual violence who attend a healthcare setting: a systematic review.

Caswell RJ, Ross JD, Lorimer K.

Sex Transm Infect. 2019 Sep;95(6):419-427. doi: 10.1136/sextrans-2018-053920. Epub 2019 Jun 19. Review.

PMID:
31217323
3.

A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.

De Franco E, Watson RA, Weninger WJ, Wong CC, Flanagan SE, Caswell R, Green A, Tudor C, Lelliott CJ, Geyer SH, Maurer-Gesek B, Reissig LF, Lango Allen H, Caliebe A, Siebert R, Holterhus PM, Deeb A, Prin F, Hilbrands R, Heimberg H, Ellard S, Hattersley AT, Barroso I.

Am J Hum Genet. 2019 May 2;104(5):985-989. doi: 10.1016/j.ajhg.2019.03.018. Epub 2019 Apr 18.

4.

Copy number variation of LINGO1 in familial dystonic tremor.

Alakbarzade V, Iype T, Chioza BA, Singh R, Harlalka GV, Hardy H, Sreekantan-Nair A, Proukakis C, Peall K, Clark LN, Caswell R, Lango Allen H, Wakeling M, Chilton JK, Baple EL, Louis ED, Warner TT, Crosby AH.

Neurol Genet. 2019 Feb 4;5(1):e307. doi: 10.1212/NXG.0000000000000307. eCollection 2019 Feb.

5.

Rapid onset and progression of myelopathy following an STI: a case for screening?

Caswell RJ, Nall P, Boothby M, Taylor GP.

Sex Transm Infect. 2019 Jun;95(4):244-245. doi: 10.1136/sextrans-2019-053978. Epub 2019 Mar 1.

PMID:
30824578
6.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernández B, Gener B; DDD study, Fawcett KA, Gjergja-Juraški R, Pilz DT, Fry AE.

Am J Hum Genet. 2018 Dec 6;103(6):1054-1055. doi: 10.1016/j.ajhg.2018.11.009. No abstract available.

7.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernández B, Gener B; DDD study, Fawcett KA, Gjergja-Juraški R, Pilz DT, Fry AE.

Am J Hum Genet. 2018 Nov 1;103(5):786-793. doi: 10.1016/j.ajhg.2018.09.012. Epub 2018 Oct 18. Erratum in: Am J Hum Genet. 2018 Dec 6;103(6):1054-1055.

8.

TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton.

Burren CP, Caswell R, Castle B, Welch CR, Hilliard TN, Smithson SF, Ellard S.

Am J Med Genet A. 2018 Sep;176(9):1950-1955. doi: 10.1002/ajmg.a.40484. Epub 2018 Aug 25.

9.

Emerging sexually transmitted viral infections: 2. Review of Zika virus disease.

Caswell RJ, Manavi K.

Int J STD AIDS. 2018 Oct;29(12):1238-1246. doi: 10.1177/0956462418779465. Epub 2018 Jun 26. Review.

PMID:
29945539
10.

Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay.

Low KJ, Baptista J, Babiker M, Caswell R, King C, Ellard S, Scurr I.

Eur J Med Genet. 2019 Feb;62(2):97-102. doi: 10.1016/j.ejmg.2018.06.009. Epub 2018 Jun 12. No abstract available.

PMID:
29902590
11.

Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.

Low KJ, Stals K, Caswell R, Wakeling M, Clayton-Smith J, Donaldson A, Foulds N, Norman A, Splitt M, Urankar K, Vijayakumar K, Majumdar A, Study D, Ellard S, Smithson SF.

Eur J Hum Genet. 2018 Jun;26(6):796-807. doi: 10.1038/s41431-018-0110-x. Epub 2018 Mar 6.

12.

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.

Iacovazzo D, Flanagan SE, Walker E, Quezado R, de Sousa Barros FA, Caswell R, Johnson MB, Wakeling M, Brändle M, Guo M, Dang MN, Gabrovska P, Niederle B, Christ E, Jenni S, Sipos B, Nieser M, Frilling A, Dhatariya K, Chanson P, de Herder WW, Konukiewitz B, Klöppel G, Stein R, Korbonits M, Ellard S.

Proc Natl Acad Sci U S A. 2018 Jan 30;115(5):1027-1032. doi: 10.1073/pnas.1712262115. Epub 2018 Jan 16.

13.

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

Stals KL, Wakeling M, Baptista J, Caswell R, Parrish A, Rankin J, Tysoe C, Jones G, Gunning AC, Lango Allen H, Bradley L, Brady AF, Carley H, Carmichael J, Castle B, Cilliers D, Cox H, Deshpande C, Dixit A, Eason J, Elmslie F, Fry AE, Fryer A, Holder M, Homfray T, Kivuva E, McKay V, Newbury-Ecob R, Parker M, Savarirayan R, Searle C, Shannon N, Shears D, Smithson S, Thomas E, Turnpenny PD, Varghese V, Vasudevan P, Wakeling E, Baple EL, Ellard S.

Prenat Diagn. 2018 Jan;38(1):33-43. doi: 10.1002/pd.5175. Epub 2017 Dec 3.

14.

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.

Hamilton MJ, Caswell RC, Canham N, Cole T, Firth HV, Foulds N, Heimdal K, Hobson E, Houge G, Joss S, Kumar D, Lampe AK, Maystadt I, McKay V, Metcalfe K, Newbury-Ecob R, Park SM, Robert L, Rustad CF, Wakeling E, Wilkie AOM, Study TDDD, Twigg SRF, Suri M.

J Med Genet. 2018 Jan;55(1):28-38. doi: 10.1136/jmedgenet-2017-104620. Epub 2017 Oct 11.

15.

Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia.

Laver TW, Weedon MN, Caswell R, Hussain K, Ellard S, Flanagan SE.

Hum Mutat. 2017 Oct;38(10):1442-1444. doi: 10.1002/humu.23289. Epub 2017 Aug 1. No abstract available.

PMID:
28681398
16.

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

Elouej S, Beleza-Meireles A, Caswell R, Colclough K, Ellard S, Desvignes JP, Béroud C, Lévy N, Mohammed S, De Sandre-Giovannoli A.

Metabolism. 2017 Jun;71:213-225. doi: 10.1016/j.metabol.2017.03.011. Epub 2017 Mar 28.

17.

Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.

De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, Oh V, Petz O, Caswell R, Ellard S, Urano F, Hattersley AT.

Diabetes. 2017 Jul;66(7):2044-2053. doi: 10.2337/db16-1296. Epub 2017 May 3.

18.

Patient confidentiality and autonomy: how do we account for coercive control?

Cohen CE, Caswell RJ; BASHH Sexual Violence Special Interest Group.

Sex Transm Infect. 2017 Jun;93(4):232-233. doi: 10.1136/sextrans-2017-053208. Epub 2017 Apr 19. No abstract available.

PMID:
28424301
19.

Emerging sexually transmitted viral infections: 1. Review of Ebola virus disease.

Caswell RJ, Manavi K.

Int J STD AIDS. 2017 Nov;28(13):1352-1359. doi: 10.1177/0956462417703572. Epub 2017 Apr 11. Review.

PMID:
28399710
20.

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, Antón-Gamero M, Argente J, Bussell AM, Brandli A, Cheshire C, Crowne E, Dumitriu S, Drynda R, Hamilton-Shield JP, Hayes W, Hofherr A, Iancu D, Issler N, Jefferies C, Jones P, Johnson M, Kesselheim A, Klootwijk E, Koettgen M, Lewis W, Martos JM, Mozere M, Norman J, Patel V, Parrish A, Pérez-Cerdá C, Pozo J, Rahman SA, Sebire N, Tekman M, Turnpenny PD, Hoff WV, Viering DHHM, Weedon MN, Wilson P, Guay-Woodford L, Kleta R, Hussain K, Ellard S, Bockenhauer D.

J Am Soc Nephrol. 2017 Aug;28(8):2529-2539. doi: 10.1681/ASN.2016121312. Epub 2017 Apr 3.

21.

A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia.

Flanagan SE, Vairo F, Johnson MB, Caswell R, Laver TW, Lango Allen H, Hussain K, Ellard S.

Pediatr Diabetes. 2017 Jun;18(4):320-323. doi: 10.1111/pedi.12512. Epub 2017 Mar 20.

22.

Analysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes.

De Franco E, Caswell R, Houghton JA, Iotova V, Hattersley AT, Ellard S.

Diabet Med. 2017 Apr;34(4):582-585. doi: 10.1111/dme.13180. Epub 2016 Jul 31.

23.

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.

Houghton JA, Swift GH, Shaw-Smith C, Flanagan SE, de Franco E, Caswell R, Hussain K, Mohamed S, Abdulrasoul M, Hattersley AT, MacDonald RJ, Ellard S.

Diabetes. 2016 Sep;65(9):2810-5. doi: 10.2337/db15-1666. Epub 2016 Jun 9.

24.

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.

Iacovazzo D, Caswell R, Bunce B, Jose S, Yuan B, Hernández-Ramírez LC, Kapur S, Caimari F, Evanson J, Ferraù F, Dang MN, Gabrovska P, Larkin SJ, Ansorge O, Rodd C, Vance ML, Ramírez-Renteria C, Mercado M, Goldstone AP, Buchfelder M, Burren CP, Gurlek A, Dutta P, Choong CS, Cheetham T, Trivellin G, Stratakis CA, Lopes MB, Grossman AB, Trouillas J, Lupski JR, Ellard S, Sampson JR, Roncaroli F, Korbonits M.

Acta Neuropathol Commun. 2016 Jun 1;4(1):56. doi: 10.1186/s40478-016-0328-1.

25.

The Significance of Isolated Reactive Treponemal Enzyme Immunoassay in the Diagnosis of Early Syphilis.

Caswell RJ, Hathorn E, Manavi K.

Sex Transm Dis. 2016 Jun;43(6):365-8. doi: 10.1097/OLQ.0000000000000446.

PMID:
27196257
26.

Somatic GPR101 Duplication Causing X-Linked Acrogigantism (XLAG)-Diagnosis and Management.

Rodd C, Millette M, Iacovazzo D, Stiles CE, Barry S, Evanson J, Albrecht S, Caswell R, Bunce B, Jose S, Trouillas J, Roncaroli F, Sampson J, Ellard S, Korbonits M.

J Clin Endocrinol Metab. 2016 May;101(5):1927-30. doi: 10.1210/jc.2015-4366. Epub 2016 Mar 16.

27.

Pitfalls of haplotype phasing from amplicon-based long-read sequencing.

Laver TW, Caswell RC, Moore KA, Poschmann J, Johnson MB, Owens MM, Ellard S, Paszkiewicz KH, Weedon MN.

Sci Rep. 2016 Feb 17;6:21746. doi: 10.1038/srep21746.

28.

SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.

Owens M, Kivuva E, Quinn A, Brennan P, Caswell R, Lango Allen H, Vaidya B, Ellard S.

Clin Endocrinol (Oxf). 2016 May;84(5):715-9. doi: 10.1111/cen.13008. Epub 2016 Feb 4.

PMID:
26708403
29.

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.

Sansbury FH, Kirel B, Caswell R, Lango Allen H, Flanagan SE, Hattersley AT, Ellard S, Shaw-Smith CJ.

Eur J Hum Genet. 2015 Dec;23(12):1750. doi: 10.1038/ejhg.2015.208. No abstract available.

30.

A comparison of mitochondrial DNA isolation methods in frozen post-mortem human brain tissue--applications for studies of mitochondrial genetics in brain disorders.

Devall M, Burrage J, Caswell R, Johnson M, Troakes C, Al-Sarraj S, Jeffries AR, Mill J, Lunnon K.

Biotechniques. 2015 Oct 1;59(4):241-2, 244-6. doi: 10.2144/000114343. eCollection 2015 Oct.

31.

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.

Sansbury FH, Kirel B, Caswell R, Allen HL, Flanagan SE, Hattersley AT, Ellard S, Shaw-Smith CJ.

Eur J Hum Genet. 2015 Dec;23(12):1744-8. doi: 10.1038/ejhg.2015.161. Epub 2015 Aug 12. Erratum in: Eur J Hum Genet. 2015 Dec;23(12):1750. Lango Allen, Hana [corrected to Allen, Hana Lango].

32.

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.

Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Allen HL, De Franco E, McDonald TJ, Rajala H, Ramelius A, Barton J, Heiskanen K, Heiskanen-Kosma T, Kajosaari M, Murphy NP, Milenkovic T, Seppänen M, Lernmark Å, Mustjoki S, Otonkoski T, Kere J, Morgan NG, Ellard S, Hattersley AT.

Nat Genet. 2014 Aug;46(8):812-814. doi: 10.1038/ng.3040. Epub 2014 Jul 20.

33.

An exome sequencing strategy to diagnose lethal autosomal recessive disorders.

Ellard S, Kivuva E, Turnpenny P, Stals K, Johnson M, Xie W, Caswell R, Lango Allen H.

Eur J Hum Genet. 2015 Mar;23(3):401-4. doi: 10.1038/ejhg.2014.120. Epub 2014 Jun 25.

34.

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans.

Lango Allen H, Caswell R, Xie W, Xu X, Wragg C, Turnpenny PD, Turner CL, Weedon MN, Ellard S.

J Med Genet. 2014 Apr;51(4):264-7. doi: 10.1136/jmedgenet-2013-102142. Epub 2014 Jan 23.

35.

An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.

Hartill VL, Tysoe C, Manning N, Dobbie A, Santra S, Walter J, Caswell R, Koster J, Waterham H, Hobson E.

Am J Med Genet A. 2014 Apr;164A(4):907-14. doi: 10.1002/ajmg.a.36368. Epub 2014 Jan 23.

PMID:
24459067
36.

The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.

Hamilton AJ, Bingham C, McDonald TJ, Cook PR, Caswell RC, Weedon MN, Oram RA, Shields BM, Shepherd M, Inward CD, Hamilton-Shield JP, Kohlhase J, Ellard S, Hattersley AT.

J Med Genet. 2014 Mar;51(3):165-9. doi: 10.1136/jmedgenet-2013-102066. Epub 2013 Nov 27.

37.

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

Weedon MN, Cebola I, Patch AM, Flanagan SE, De Franco E, Caswell R, Rodríguez-Seguí SA, Shaw-Smith C, Cho CH, Allen HL, Houghton JA, Roth CL, Chen R, Hussain K, Marsh P, Vallier L, Murray A; International Pancreatic Agenesis Consortium, Ellard S, Ferrer J, Hattersley AT.

Nat Genet. 2014 Jan;46(1):61-64. doi: 10.1038/ng.2826. Epub 2013 Nov 10.

38.

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.

Ellard S, Lango Allen H, De Franco E, Flanagan SE, Hysenaj G, Colclough K, Houghton JA, Shepherd M, Hattersley AT, Weedon MN, Caswell R.

Diabetologia. 2013 Sep;56(9):1958-63. doi: 10.1007/s00125-013-2962-5. Epub 2013 Jun 15.

39.

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.

Weedon MN, Ellard S, Prindle MJ, Caswell R, Lango Allen H, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, Turnpenny P, McCann E, Goh KJ, Wang Y, Fulford J, McCulloch LJ, Savage DB, O'Rahilly S, Kos K, Loeb LA, Semple RK, Hattersley AT.

Nat Genet. 2013 Aug;45(8):947-50. doi: 10.1038/ng.2670. Epub 2013 Jun 16.

40.

Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.

Flanagan SE, Xie W, Caswell R, Damhuis A, Vianey-Saban C, Akcay T, Darendeliler F, Bas F, Guven A, Siklar Z, Ocal G, Berberoglu M, Murphy N, O'Sullivan M, Green A, Clayton PE, Banerjee I, Clayton PT, Hussain K, Weedon MN, Ellard S.

Am J Hum Genet. 2013 Jan 10;92(1):131-6. doi: 10.1016/j.ajhg.2012.11.017. Epub 2012 Dec 27.

41.

Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.

Mehta P, Mitchell A, Tysoe C, Caswell R, Owens M, Vincent T.

Rheumatology (Oxford). 2012 Oct;51(10):1919-21. Epub 2012 Apr 26. No abstract available.

PMID:
22539483
42.

GATA6 haploinsufficiency causes pancreatic agenesis in humans.

Allen HL, Flanagan SE, Shaw-Smith C, De Franco E, Akerman I, Caswell R; International Pancreatic Agenesis Consortium, Ferrer J, Hattersley AT, Ellard S.

Nat Genet. 2011 Dec 11;44(1):20-22. doi: 10.1038/ng.1035.

43.

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S.

Am J Hum Genet. 2011 Aug 12;89(2):308-12. doi: 10.1016/j.ajhg.2011.07.002. Epub 2011 Aug 4.

44.

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.

Steele AM, Tribble ND, Caswell R, Wensley KJ, Hattersley AT, Gloyn AL, Ellard S.

Diabetologia. 2011 Aug;54(8):2202-5. doi: 10.1007/s00125-011-2194-5. Epub 2011 May 21. No abstract available.

PMID:
21604084
45.

Utility of therapeutic drug monitoring in the management of HIV-infected pregnant women in receipt of lopinavir.

Caswell RJ, Phillips D, Chaponda M, Khoo SH, Taylor GP, Ghanem M, Poulton M, Welch J, Gibbons S, Jackson V, Lambert JS.

Int J STD AIDS. 2011 Jan;22(1):11-4. doi: 10.1258/ijsa.2009.009184.

46.

Differential relocation and stability of PML-body components during productive human cytomegalovirus infection: detailed characterization by live-cell imaging.

Dimitropoulou P, Caswell R, McSharry BP, Greaves RF, Spandidos DA, Wilkinson GW, Sourvinos G.

Eur J Cell Biol. 2010 Oct;89(10):757-68. doi: 10.1016/j.ejcb.2010.05.006.

PMID:
20599291
47.

Evaluating the cost-effectiveness of cancer patient navigation programs: conceptual and practical issues.

Ramsey S, Whitley E, Mears VW, McKoy JM, Everhart RM, Caswell RJ, Fiscella K, Hurd TC, Battaglia T, Mandelblatt J; Patient Navigation Research Program Group.

Cancer. 2009 Dec 1;115(23):5394-403. doi: 10.1002/cncr.24603. Review.

48.

Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes.

Rubio-Cabezas O, Minton JA, Caswell R, Shield JP, Deiss D, Sumnik Z, Cayssials A, Herr M, Loew A, Lewis V, Ellard S, Hattersley AT.

Diabetes Care. 2009 Jan;32(1):111-6. doi: 10.2337/dc08-1188. Epub 2008 Oct 17.

49.

A new approach to teaching veterinary public health at the Ohio State University.

Hoet AE, Caswell RJ, DeGraves FJ, Rajala-Schultz PJ, Gebreyes WA, Saville WJ, Wittum TE.

J Vet Med Educ. 2008 Summer;35(2):160-5. doi: 10.3138/jvme.35.2.160.

PMID:
18723796
50.

Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata.

Tysoe C, Law CJ, Caswell R, Clayton P, Ellard S.

Prenat Diagn. 2008 May;28(5):384-8. doi: 10.1002/pd.1980.

PMID:
18395876

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