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Items: 35

1.

Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1.

Bourque DK, Fonseca IC, Staines A, Teitelbaum R, Axford MM, Jobling R, Chiasson D, Chitayat D.

Am J Med Genet A. 2019 May 9. doi: 10.1002/ajmg.a.61162. [Epub ahead of print]

PMID:
31074124
2.

Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis.

Rayment JH, Jobling R, Bowdin S, Cutz E, Dell SD.

ERJ Open Res. 2019 Apr 26;5(2). pii: 00205-2018. doi: 10.1183/23120541.00205-2018. eCollection 2019 Apr.

3.

Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B.

Hannah-Shmouni F, MacNeil L, Potter M, Jobling R, Yoon G, Laughlin S, Blaser S, Inbar-Feigenberg M.

Mol Genet Metab Rep. 2018 Dec 20;18:11-13. doi: 10.1016/j.ymgmr.2018.12.003. eCollection 2019 Mar.

4.

Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot.

Reuter MS, Jobling R, Chaturvedi RR, Manshaei R, Costain G, Heung T, Curtis M, Hosseini SM, Liston E, Lowther C, Oechslin E, Sticht H, Thiruvahindrapuram B, Mil SV, Wald RM, Walker S, Marshall CR, Silversides CK, Scherer SW, Kim RH, Bassett AS.

Genet Med. 2019 Apr;21(4):1001-1007. doi: 10.1038/s41436-018-0260-9. Epub 2018 Sep 20.

PMID:
30232381
5.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH; GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP.

Am J Hum Genet. 2018 Sep 6;103(3):456. doi: 10.1016/j.ajhg.2018.08.012. No abstract available.

6.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH; GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP.

Am J Hum Genet. 2018 Aug 2;103(2):221-231. doi: 10.1016/j.ajhg.2018.07.001. Epub 2018 Jul 26. Erratum in: Am J Hum Genet. 2018 Sep 6;103(3):456.

7.

Reappraisal of Reported Genes for Sudden Arrhythmic Death.

Hosseini SM, Kim R, Udupa S, Costain G, Jobling R, Liston E, Jamal SM, Szybowska M, Morel CF, Bowdin S, Garcia J, Care M, Sturm AC, Novelli V, Ackerman MJ, Ware JS, Hershberger RE, Wilde AAM, Gollob MH; National Institutes of Health Clinical Genome Resource Consortium.

Circulation. 2018 Sep 18;138(12):1195-1205. doi: 10.1161/CIRCULATIONAHA.118.035070.

8.

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

Jobling R, Stavropoulos DJ, Marshall CR, Cytrynbaum C, Axford MM, Londero V, Moalem S, Orr J, Rossignol F, Lopes FD, Gauthier J, Alos N, Rupps R, McKinnon M, Adam S, Nowaczyk MJM, Walker S, Scherer SW, Nassif C, Hamdan FF, Deal CL, Soucy JF, Weksberg R, Macleod P, Michaud JL, Chitayat D.

J Med Genet. 2018 May;55(5):316-321. doi: 10.1136/jmedgenet-2017-105222. Epub 2018 Mar 29.

PMID:
29599419
9.

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.

Costain G, Jobling R, Walker S, Reuter MS, Snell M, Bowdin S, Cohn RD, Dupuis L, Hewson S, Mercimek-Andrews S, Shuman C, Sondheimer N, Weksberg R, Yoon G, Meyn MS, Stavropoulos DJ, Scherer SW, Mendoza-Londono R, Marshall CR.

Eur J Hum Genet. 2018 May;26(5):740-744. doi: 10.1038/s41431-018-0114-6. Epub 2018 Feb 16.

10.

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

Straub J, Konrad EDH, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, Dubbs H, Douglas G, Jobling R, Johnson D, Krock B, Mikati MA, Nesbitt A, Nicolai J, Phillips M, Poduri A, Ortiz-Gonzalez XR, Powis Z, Santani A, Smith L, Stegmann APA, Stumpel C, Vreeburg M; Deciphering Developmental Disorders Study, Fliedner A, Gregor A, Sticht H, Zweier C.

Am J Hum Genet. 2018 Jan 4;102(1):44-57. doi: 10.1016/j.ajhg.2017.11.008. Epub 2017 Dec 21.

11.

European S3-Guideline on the systemic treatment of psoriasis vulgaris - Update Apremilast and Secukinumab - EDF in cooperation with EADV and IPC.

Nast A, Spuls PI, van der Kraaij G, Gisondi P, Paul C, Ormerod AD, Saiag P, Smith CH, Dauden E, de Jong EM, Feist E, Jobling R, Maccarone M, Mrowietz U, Papp KA, Reich K, Rosumeck S, Talme T, Thio HB, van de Kerkhof P, Werner RN, Dressler C.

J Eur Acad Dermatol Venereol. 2017 Dec;31(12):1951-1963. doi: 10.1111/jdv.14454. Epub 2017 Sep 11. No abstract available.

PMID:
28895202
12.

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR.

Genet Med. 2018 Apr;20(4):435-443. doi: 10.1038/gim.2017.119. Epub 2017 Aug 3.

13.

Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosis.

Jobling RK, Lara-Corrales I, Hsiao MC, Shugar A, Hedges S, Messiaen L, Kannu P.

Br J Dermatol. 2017 Apr;176(4):1077-1078. doi: 10.1111/bjd.14873. Epub 2017 Feb 5. No abstract available.

PMID:
27423141
14.

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.

Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Porras RB, Carter MT, Chad L, Chaudhry A, Chitayat D, Doust SJ, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena K, Weksberg R, Yoon G, Carew C, Erickson R, Leach RA, Klein R, Ray PN, Meyn MS, Scherer SW, Cohn RD, Marshall CR.

NPJ Genom Med. 2016 Jan 13;1. pii: 15012. doi: 10.1038/npjgenmed.2015.12.

15.

Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia.

Gray MJ, Kannu P, Sharma S, Neyt C, Zhang D, Paria N, Daniel PB, Whetstone H, Sprenger HG, Hammerschmidt P, Weng A, Dupuis L, Jobling R, Mendoza-Londono R, Dray M, Su P, Wilson MJ, Kapur RP, McCarthy EF, Alman BA, Howard A, Somers GR, Marshall CR, Manners S, Flanagan AM, Rathjen KE, Karol LA, Crawford H, Markie DM, Rios JJ, Wise CA, Robertson SP.

Am J Hum Genet. 2015 Dec 3;97(6):837-47. doi: 10.1016/j.ajhg.2015.11.001.

16.

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management.

Avila M, Dyment DA, Sagen JV, St-Onge J, Moog U, Chung BHY, Mo S, Mansour S, Albanese A, Garcia S, Martin DO, Lopez AA, Claudi T, König R, White SM, Sawyer SL, Bernstein JA, Slattery L, Jobling RK, Yoon G, Curry CJ, Merrer ML, Luyer BL, Héron D, Mathieu-Dramard M, Bitoun P, Odent S, Amiel J, Kuentz P, Thevenon J, Laville M, Reznik Y, Fagour C, Nunes ML, Delesalle D, Manouvrier S, Lascols O, Huet F, Binquet C, Faivre L, Rivière JB, Vigouroux C, Njølstad PR, Innes AM, Thauvin-Robinet C.

Clin Genet. 2016 Apr;89(4):501-506. doi: 10.1111/cge.12688. Epub 2015 Nov 27.

17.

European S3-Guidelines on the systemic treatment of psoriasis vulgaris--Update 2015--Short version--EDF in cooperation with EADV and IPC.

Nast A, Gisondi P, Ormerod AD, Saiag P, Smith C, Spuls PI, Arenberger P, Bachelez H, Barker J, Dauden E, de Jong EM, Feist E, Jacobs A, Jobling R, Kemény L, Maccarone M, Mrowietz U, Papp KA, Paul C, Reich K, Rosumeck S, Talme T, Thio HB, van de Kerkhof P, Werner RN, Yawalkar N.

J Eur Acad Dermatol Venereol. 2015 Dec;29(12):2277-94. doi: 10.1111/jdv.13354. Epub 2015 Oct 19. No abstract available.

PMID:
26481193
18.

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

Marshall CR, Scherer SW, Zariwala MA, Lau L, Paton TA, Stockley T, Jobling RK, Ray PN, Knowles MR; FORGE Canada Consortium, Hall DA, Dell SD, Kim RH.

G3 (Bethesda). 2015 Jul 2;5(8):1775-81. doi: 10.1534/g3.115.019851.

19.

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.

Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, Mignot C, Roze E, Dürr A, Brice A, Lévy N, Prasad C, Paton T, Paterson AD, Roslin NM, Marshall CR, Desvignes JP, Roëckel-Trevisiol N, Scherer SW, Rouleau GA, Mégarbané A, Isaya G, Delague V, Yoon G.

Brain. 2015 Jun;138(Pt 6):1505-17. doi: 10.1093/brain/awv057. Epub 2015 Mar 25.

20.

Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.

Lines MA, Jobling R, Brady L, Marshall CR, Scherer SW, Rodriguez AR, Lee L, Lang AE, Mestre TA, Wanders RJ, Ferdinandusse S, Tarnopolsky MA; Canadian Pediatric Genetic Disorders Sequencing Consortium (FORGE Canada).

Neurology. 2014 Mar 18;82(11):963-8. doi: 10.1212/WNL.0000000000000219. Epub 2014 Feb 19.

21.

Being there: a brief visit to a neighbourhood induces the social attitudes of that neighbourhood.

Nettle D, Pepper GV, Jobling R, Schroeder KB.

PeerJ. 2014 Jan 14;2:e236. doi: 10.7717/peerj.236. eCollection 2014.

22.

The collagenopathies: review of clinical phenotypes and molecular correlations.

Jobling R, D'Souza R, Baker N, Lara-Corrales I, Mendoza-Londono R, Dupuis L, Savarirayan R, Ala-Kokko L, Kannu P.

Curr Rheumatol Rep. 2014 Jan;16(1):394. doi: 10.1007/s11926-013-0394-3. Review.

PMID:
24338780
23.

The first report of nephrocalcinosis in a patient with a 16q23.1-16q23.3 deletion, global developmental delay, trigonocephaly, and portocaval shunt.

Jobling RK, Kannu P, Licht C, Carter MT.

Clin Dysmorphol. 2013 Oct;22(4):152-5. doi: 10.1097/MCD.0000000000000007. No abstract available.

PMID:
24326958
24.

Monozygotic twins with variable expression of Van der Woude syndrome.

Jobling R, Ferrier RA, McLeod R, Petrin AL, Murray JC, Thomas MA.

Am J Med Genet A. 2011 Aug;155A(8):2008-10. doi: 10.1002/ajmg.a.34022. Epub 2011 Jul 7. No abstract available.

25.

European S3-guidelines on the systemic treatment of psoriasis vulgaris.

Pathirana D, Ormerod AD, Saiag P, Smith C, Spuls PI, Nast A, Barker J, Bos JD, Burmester GR, Chimenti S, Dubertret L, Eberlein B, Erdmann R, Ferguson J, Girolomoni G, Gisondi P, Giunta A, Griffiths C, Hönigsmann H, Hussain M, Jobling R, Karvonen SL, Kemeny L, Kopp I, Leonardi C, Maccarone M, Menter A, Mrowietz U, Naldi L, Nijsten T, Ortonne JP, Orzechowski HD, Rantanen T, Reich K, Reytan N, Richards H, Thio HB, van de Kerkhof P, Rzany B.

J Eur Acad Dermatol Venereol. 2009 Oct;23 Suppl 2:1-70. doi: 10.1111/j.1468-3083.2009.03389.x. Erratum in: J Eur Acad Dermatol Venereol. 2010 Jan;24(1):117-8.

PMID:
19712190
26.

Psoriasis.

Jobling R.

BMJ. 2007 May 5;334(7600):953-4. Review. No abstract available.

27.

Conflicts of interest in dermatology.

Williams HC, Naldi L, Paul C, Vahlquist A, Schroter S, Jobling R.

Acta Derm Venereol. 2006;86(6):485-97.

28.

Assessing the impact of psoriasis and the relevance of qualitative research.

Jobling R, Naldi L.

J Invest Dermatol. 2006 Jul;126(7):1438-40.

29.

Is the NHS willing to help clinicians and patients reduce uncertainties about the effects of treatments?

Chalmers R, Jobling R, Chalmers I.

Clin Med (Lond). 2005 May-Jun;5(3):230-4. Review.

31.

Home phototherapy: report on a workshop of the British Photodermatology Group, December 1996.

Sarkany RP, Anstey A, Diffey BL, Jobling R, Langmack K, McGregor JM, Moseley H, Murphy GM, Rhodes LE, Norris PG.

Br J Dermatol. 1999 Feb;140(2):195-9. Review.

PMID:
10733266
32.

Organization of psoriasis treatment and psychosocial aspects.

Swanbeck G, Jobling R.

Acta Derm Venereol Suppl (Stockh). 1984;112:61-3. No abstract available.

PMID:
6596826
33.

Unemployment and health.

Jobling RG.

Lancet. 1979 Jun 2;1(8127):1189. No abstract available.

PMID:
86908
34.

Photochemotherapy for psoriasis.

Jobling RG, Coles RB.

Lancet. 1979 May 26;1(8126):1146. No abstract available.

PMID:
86869
35.

Psoriasis -- a preliminary questionnaire study of sufferers' subjective experience.

Jobling RG.

Clin Exp Dermatol. 1976 Sep;1(3):233-6. No abstract available.

PMID:
975604

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