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Items: 1 to 50 of 558

1.

The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.

Foster A, Zachariou A, Loveday C, Ashraf T, Blair E, Clayton-Smith J, Dorkins H, Fryer A, Gener B, Goudie D, Henderson A, Irving M, Joss S, Keeley V, Lahiri N, Lynch SA, Mansour S, McCann E, Morton J, Motton N, Murray A, Riches K, Shears D, Stark Z, Thompson E, Vogt J, Wright M, Cole T, Tatton-Brown K.

Am J Med Genet C Semin Med Genet. 2019 Sep 3. doi: 10.1002/ajmg.c.31738. [Epub ahead of print]

PMID:
31479583
2.

Botulinum toxin and surgical intervention in children and adolescents with cerebral palsy: who, when and why do we treat?

Valentine J, Davidson SA, Bear N, Blair E, Ward R, Thornton A, Stannage K, Watson L, Forbes D, Elliott C.

Disabil Rehabil. 2019 Aug 15:1-8. doi: 10.1080/09638288.2019.1644381. [Epub ahead of print]

PMID:
31415723
3.

Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.

Pagnamenta AT, Heemeryck P, Martin HC, Bosc C, Peris L, Uszynski I, Gory-Fauré S, Couly S, Deshpande C, Siddiqui A, Elmonairy AA, Jayawant S, Murthy S, Walker I, Loong L, Bauer P, Vossier F, Denarier E, Maurice T, Barbier EL, Deloulme JC, Taylor JC, Blair EM, Andrieux A, Moutin MJ.

Hum Mol Genet. 2019 Jul 31. pii: ddz186. doi: 10.1093/hmg/ddz186. [Epub ahead of print]

PMID:
31363758
4.

Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations.

Cameron JM, Maljevic S, Nair U, Aung YH, Cogné B, Bézieau S, Blair E, Isidor B, Zweier C, Reis A, Koenig MK, Maarup T, Sarco D, Afenjar A, Huq AHMM, Kukolich M, Billette de Villemeur T, Nava C, Héron B, Petrou S, Berkovic SF.

Ann Clin Transl Neurol. 2019 Jul;6(7):1263-1272. doi: 10.1002/acn3.50822. Epub 2019 Jul 1.

5.

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.

Taylor J, Craft J, Blair E, Wordsworth S, Beeson D, Chandratre S, Cossins J, Lester T, Németh AH, Ormondroyd E, Patel SY, Pagnamenta AT, Taylor JC, Thomson KL, Watkins H, Wilkie AOM, Knight JC.

Genome Med. 2019 Jul 25;11(1):46. doi: 10.1186/s13073-019-0651-9.

6.

A clinical scoring system for congenital contractural arachnodactyly.

Meerschaut I, De Coninck S, Steyaert W, Barnicoat A, Bayat A, Benedicenti F, Berland S, Blair EM, Breckpot J, de Burca A, Destrée A, García-Miñaúr S, Green AJ, Hanna BC, Keymolen K, Koopmans M, Lederer D, Lees M, Longman C, Lynch SA, Male AM, McKenzie F, Migeotte I, Mihci E, Nur B, Petit F, Piard J, Plasschaert FS, Rauch A, Ribaï P, Pacheco IS, Stanzial F, Stolte-Dijkstra I, Valenzuela I, Varghese V, Vasudevan PC, Wakeling E, Wallgren-Pettersson C, Coucke P, De Paepe A, De Wolf D, Symoens S, Callewaert B.

Genet Med. 2019 Jul 18. doi: 10.1038/s41436-019-0609-8. [Epub ahead of print]

PMID:
31316167
7.

Efficacy and safety of dolutegravir-rilpivirine for maintenance of virological suppression in adults with HIV-1: 100-week data from the randomised, open-label, phase 3 SWORD-1 and SWORD-2 studies.

Aboud M, Orkin C, Podzamczer D, Bogner JR, Baker D, Khuong-Josses MA, Parks D, Angelis K, Kahl LP, Blair EA, Adkison K, Underwood M, Matthews JE, Wynne B, Vandermeulen K, Gartland M, Smith K.

Lancet HIV. 2019 Sep;6(9):e576-e587. doi: 10.1016/S2352-3018(19)30149-3. Epub 2019 Jul 12.

PMID:
31307948
8.

In vivo validation of a miniaturized electrochemical oxygen sensor for measuring intestinal oxygen tension.

Gray ME, Marland JRK, Dunare C, Blair EO, Meehan J, Tsiamis A, Kunkler IH, Murray AF, Argyle D, Dyson A, Singer M, Potter MA.

Am J Physiol Gastrointest Liver Physiol. 2019 Aug 1;317(2):G242-G252. doi: 10.1152/ajpgi.00050.2019. Epub 2019 Jun 12.

9.

Do health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular disease.

Buchanan J, Blair E, Thomson KL, Ormondroyd E, Watkins H, Taylor JC, Wordsworth S.

Eur J Hum Genet. 2019 Jun 11. doi: 10.1038/s41431-019-0452-z. [Epub ahead of print]

PMID:
31186546
10.

OPTIMA: a phase II dose and volume de-escalation trial for human papillomavirus-positive oropharyngeal cancer.

Seiwert TY, Foster CC, Blair EA, Karrison TG, Agrawal N, Melotek JM, Portugal L, Brisson RJ, Dekker A, Kochanny S, Gooi Z, Lingen MW, Villaflor VM, Ginat DT, Haraf DJ, Vokes EE.

Ann Oncol. 2019 Jun 5. pii: mdz171. doi: 10.1093/annonc/mdz171. [Epub ahead of print] No abstract available.

PMID:
31168601
11.

Survival and mortality in cerebral palsy: observations to the sixth decade from a data linkage study of a total population register and National Death Index.

Blair E, Langdon K, McIntyre S, Lawrence D, Watson L.

BMC Neurol. 2019 Jun 4;19(1):111. doi: 10.1186/s12883-019-1343-1.

12.

Mucoepidermoid Carcinoma: A Comparison of Histologic Grading Systems and Relationship to MAML2 Rearrangement and Prognosis.

Cipriani NA, Lusardi JJ, McElherne J, Pearson AT, Olivas AD, Fitzpatrick C, Lingen MW, Blair EA.

Am J Surg Pathol. 2019 Jul;43(7):885-897. doi: 10.1097/PAS.0000000000001252.

PMID:
31021855
13.

Citizen science reveals female sand tiger sharks (Carcharias taurus) exhibit signs of site fidelity on shipwrecks.

Paxton AB, Blair E, Blawas C, Fatzinger MH, Marens M, Holmberg J, Kingen C, Houppermans T, Keusenkothen M, McCord J, Silliman BR, Penfold LM.

Ecology. 2019 Aug;100(8):e02687. doi: 10.1002/ecy.2687. Epub 2019 Apr 22. No abstract available.

PMID:
31009086
14.

A review of microfabricated electrochemical biosensors for DNA detection.

Blair EO, Corrigan DK.

Biosens Bioelectron. 2019 Jun 1;134:57-67. doi: 10.1016/j.bios.2019.03.055. Epub 2019 Mar 29. Review.

PMID:
30954927
15.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Lloyd Holder J Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P.

Genome Med. 2019 Mar 25;11(1):16. doi: 10.1186/s13073-019-0630-1.

16.

Contribution of time of day and the circadian clock to the heat stress responsive transcriptome in Arabidopsis.

Blair EJ, Bonnot T, Hummel M, Hay E, Marzolino JM, Quijada IA, Nagel DH.

Sci Rep. 2019 Mar 18;9(1):4814. doi: 10.1038/s41598-019-41234-w.

17.

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

Pagnamenta AT, Kaisaki PJ, Bennett F, Burkitt-Wright E, Martin HC, Ferla MP, Taylor JM, Gompertz L, Lahiri N, Tatton-Brown K, Newbury-Ecob R, Henderson A, Joss S, Weber A, Carmichael J, Turnpenny PD, McKee S, Forzano F, Ashraf T, Bradbury K, Shears D, Kini U, de Burca A; DDD Study, Blair E, Taylor JC, Stewart H.

Clin Genet. 2019 Jun;95(6):693-703. doi: 10.1111/cge.13533. Epub 2019 Apr 3.

18.

Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia.

Duplomb L, Rivière J, Jego G, Da Costa R, Hammann A, Racine J, Schmitt A, Droin N, Capron C, Gougerot-Pocidalo MA, Dubrez L, Aral B, Lafon A, Edery P, Ghoumid J, Blair E, El Chehadeh-Djebbar S, Carmignac V, Thevenon J, Guy J, Girodon F, Bastie JN, Delva L, Faivre L, Thauvin-Robinet C, Solary E.

J Mol Med (Berl). 2019 May;97(5):633-645. doi: 10.1007/s00109-019-01754-4. Epub 2019 Mar 7.

PMID:
30843084
19.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P.

Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Erratum in: Genome Med. 2019 Mar 25;11(1):16.

20.

Normative data of muscle fiber diameter of vastus lateralis during childhood: a field test.

Valentine J, Dyke J, Ward R, Thornton A, Blair E, Stannage K, Elliott C, Fabian V.

Muscle Nerve. 2019 May;59(5):590-593. doi: 10.1002/mus.26426. Epub 2019 Feb 14.

PMID:
30680744
21.

Plerixafor for the Treatment of WHIM Syndrome.

McDermott DH, Pastrana DV, Calvo KR, Pittaluga S, Velez D, Cho E, Liu Q, Trout HH 3rd, Neves JF, Gardner PJ, Bianchi DA, Blair EA, Landon EM, Silva SL, Buck CB, Murphy PM.

N Engl J Med. 2019 Jan 10;380(2):163-170. doi: 10.1056/NEJMoa1808575.

22.

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.

Thomson KL, Ormondroyd E, Harper AR, Dent T, McGuire K, Baksi J, Blair E, Brennan P, Buchan R, Bueser T, Campbell C, Carr-White G, Cook S, Daniels M, Deevi SVV, Goodship J, Hayesmoore JBG, Henderson A, Lamb T, Prasad S, Rayner-Matthews P, Robert L, Sneddon L, Stark H, Walsh R, Ware JS, Farrall M, Watkins HC; NIHR BioResource – Rare Diseases Consortium.

Genet Med. 2019 Jul;21(7):1576-1584. doi: 10.1038/s41436-018-0375-z. Epub 2018 Dec 11.

23.

OPTIMA: a phase II dose and volume de-escalation trial for human papillomavirus-positive oropharyngeal cancer.

Seiwert TY, Foster CC, Blair EA, Karrison TG, Agrawal N, Melotek JM, Portugal L, Brisson RJ, Dekker A, Kochanny S, Gooi Z, Lingen MW, Villaflor VM, Ginat DT, Haraf DJ, Vokes EE.

Ann Oncol. 2019 Feb 1;30(2):297-302. doi: 10.1093/annonc/mdy522.

PMID:
30481287
24.

Biocompatibility of common implantable sensor materials in a tumor xenograft model.

Gray ME, Meehan J, Blair EO, Ward C, Langdon SP, Morrison LR, Marland JRK, Tsiamis A, Kunkler IH, Murray A, Argyle D.

J Biomed Mater Res B Appl Biomater. 2019 Jul;107(5):1620-1633. doi: 10.1002/jbm.b.34254. Epub 2018 Oct 27.

25.

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF; DDD Study,, Arboleda VA, Newbury-Ecob R.

Genet Med. 2019 Apr;21(4):850-860. doi: 10.1038/s41436-018-0259-2. Epub 2018 Sep 24.

PMID:
30245513
26.

Impact of social disadvantage on cerebral palsy severity.

Woolfenden S, Galea C, Smithers-Sheedy H, Blair E, Mcintyre S, Reid S, Delacy M, Badawi N; Australian Cerebral Palsy Register Group; CP Quest.

Dev Med Child Neurol. 2019 May;61(5):586-592. doi: 10.1111/dmcn.14026. Epub 2018 Sep 17.

PMID:
30221759
27.

Is it safe? The restraint chair compared to traditional methods of restraint: A three hospital study.

Visaggio N, Phillips KE, Kichefski K, McElhinney J, Idiculla TB, Blair EW, Johnson R, Santaniello J, Pennant LRA, Young SC.

Arch Psychiatr Nurs. 2018 Oct;32(5):723-728. doi: 10.1016/j.apnu.2018.04.003. Epub 2018 Apr 16. No abstract available.

PMID:
30201200
28.

Cerebral palsy trends in Australia (1995-2009): a population-based observational study.

Galea C, Mcintyre S, Smithers-Sheedy H, Reid SM, Gibson C, Delacy M, Watson L, Goldsmith S, Badawi N, Blair E; Australian Cerebral Palsy Register Group.

Dev Med Child Neurol. 2019 Feb;61(2):186-193. doi: 10.1111/dmcn.14011. Epub 2018 Sep 6.

PMID:
30187914
29.

Construct validity and responsiveness of the functional Tactile Object Recognition Test for children with cerebral palsy.

Taylor S, Girdler S, Parsons R, McLean B, Falkmer T, Carey L, Blair E, Elliott C.

Aust Occup Ther J. 2018 Oct;65(5):420-430. doi: 10.1111/1440-1630.12508. Epub 2018 Sep 4.

PMID:
30178484
30.

Aneurysmal Bone Cyst of the Maxillary Sinus with USP6 Rearrangement: Case Report of a Rare Entity and Review of the Literature.

McMullen PD, Bridge JA, Blair EA, Yang CW, Collins J, Cipriani NA.

Head Neck Pathol. 2019 Sep;13(3):281-285. doi: 10.1007/s12105-018-0956-9. Epub 2018 Aug 3.

31.

Discovering the sense of touch: protocol for a randomised controlled trial examining the efficacy of a somatosensory discrimination intervention for children with hemiplegic cerebral palsy.

McLean B, Blakeman M, Carey L, Ward R, Novak I, Valentine J, Blair E, Taylor S, Bear N, Bynevelt M, Basc E, Rose S, Reid L, Pannek K, Angeli J, Harpster K, Elliott C.

BMC Pediatr. 2018 Jul 31;18(1):252. doi: 10.1186/s12887-018-1217-5.

32.

Comprehensive investigation of congenital anomalies in cerebral palsy: protocol for a European-Australian population-based data linkage study (The Comprehensive CA-CP Study).

Goldsmith S, Garcia Jalon G, Badawi N, Blair E, Garne E, Gibson C, McIntyre S, Scott H, Smithers-Sheedy H, Andersen GL.

BMJ Open. 2018 Jul 23;8(7):e022190. doi: 10.1136/bmjopen-2018-022190.

33.

Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.

Boudin E, de Jong TR, Prickett TCR, Lapauw B, Toye K, Van Hoof V, Luyckx I, Verstraeten A, Heymans HSA, Dulfer E, Van Laer L, Berry IR, Dobbie A, Blair E, Loeys B, Espiner EA, Wit JM, Van Hul W, Houpt P, Mortier GR.

Am J Hum Genet. 2018 Aug 2;103(2):288-295. doi: 10.1016/j.ajhg.2018.06.007. Epub 2018 Jul 19.

34.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.

Michot C, Le Goff C, Blair E, Blanchet P, Capri Y, Gilbert-Dussardier B, Goldenberg A, Henderson A, Isidor B, Kayserili H, Kinning E, Le Merrer M, Lyonnet S, Odent S, Simsek-Kiper PO, Quelin C, Savarirayan R, Simon M, Splitt M, Verhagen JMA, Verloes A, Munnich A, Baujat G, Cormier-Daire V.

Eur J Hum Genet. 2018 Nov;26(11):1611-1622. doi: 10.1038/s41431-018-0135-1. Epub 2018 Jul 13.

PMID:
30006632
35.

CHAPTER 5. Clinical guideline for pharmacological management of adults with type 2 diabetes.

Ganda OP, Segal A, Blair E, Beaser R, Gaglia J, Halprin E, Gabbay RA; Members of the Joslin Clinical Oversight Committee.

Am J Manag Care. 2018 Jun;24(7 Spec No.):SP253-SP262. No abstract available.

36.

CHAPTER 4. Guideline for the care of the older adult with diabetes.

Munshi M, Blair E, Ganda OP, Gabbay RA; Members of the Joslin Clinical Oversight Committee.

Am J Manag Care. 2018 Jun;24(7 Spec No.):SP240-SP252. No abstract available.

37.

CHAPTER 3. Guideline for detection and management of diabetes in pregnancy.

Brown FM, Anderson-Haynes SE, Blair E, Serdy S, Halprin E, Feldman A, O'Brien KE, Ghiloni S, Suhl E, Rizzotto JA, Ganda OP, Gabbay RA; Members of the Joslin Clinical Oversight Committee.

Am J Manag Care. 2018 Jun;24(7 Spec No.):SP232-SP239. No abstract available.

38.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, Mikat B, de Vries BBA, Isidor B, Kerr B, Marcelis C, Schluth-Bolard C, Deshpande C, Ruivenkamp CAL, Wieczorek D; Deciphering Developmental Disorders Study, Baralle D, Blair EM, Engels H, Lüdecke HJ, Eason J, Santen GWE, Clayton-Smith J, Chandler K, Tatton-Brown K, Payne K, Helbig K, Radtke K, Nugent KM, Cremer K, Strom TM, Bird LM, Sinnema M, Bitner-Glindzicz M, van Dooren MF, Alders M, Koopmans M, Brick L, Kozenko M, Harline ML, Klaassens M, Steinraths M, Cooper NS, Edery P, Yap P, Terhal PA, van der Spek PJ, Lakeman P, Taylor RL, Littlejohn RO, Pfundt R, Mercimek-Andrews S, Stegmann APA, Kant SG, McLean S, Joss S, Swagemakers SMA, Douzgou S, Wall SA, Küry S, Calpena E, Koelling N, McGowan SJ, Twigg SRF, Mathijssen IMJ, Nellaker C, Brunner HG, Wilkie AOM.

Am J Hum Genet. 2018 Jun 7;102(6):1195-1203. doi: 10.1016/j.ajhg.2018.04.014. Epub 2018 May 31.

39.

Prediction of response to targeted and immune checkpoint therapies.

Blair ED, Kaufmann M, Keppens M.

Per Med. 2018 Jan;15(1):45-56. doi: 10.2217/pme-2017-0051. Review.

PMID:
29714118
40.

Definitive chemoradiation for locally-advanced oral cavity cancer: A 20-year experience.

Foster CC, Melotek JM, Brisson RJ, Seiwert TY, Cohen EEW, Stenson KM, Blair EA, Portugal L, Gooi Z, Agrawal N, Vokes EE, Haraf DJ.

Oral Oncol. 2018 May;80:16-22. doi: 10.1016/j.oraloncology.2018.03.008. Epub 2018 Mar 16.

PMID:
29706184
41.

Entanglement loss in molecular quantum-dot qubits due to interaction with the environment.

Blair EP, Tóth G, Lent CS.

J Phys Condens Matter. 2018 May 16;30(19):195602. doi: 10.1088/1361-648X/aab98d. Epub 2018 Mar 26.

PMID:
29578454
42.

Predicting respiratory hospital admissions in young people with cerebral palsy.

Blackmore AM, Bear N, Blair E, Langdon K, Moshovis L, Steer K, Wilson AC.

Arch Dis Child. 2018 Dec;103(12):1119-1124. doi: 10.1136/archdischild-2017-314346. Epub 2018 Mar 19. Erratum in: Arch Dis Child. 2019 Jul 11;:.

43.

Non-Psychiatric Nurses' Perceived Self-Efficacy After an Educational Intervention on Suicide Prevention and Care.

Blair EW, Chhabra J, Belonick C, Tackett M.

J Psychosoc Nurs Ment Health Serv. 2018 Jun 1;56(6):43-51. doi: 10.3928/02793695-20180305-03. Epub 2018 Mar 16.

PMID:
29538792
44.

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C; Members of the Undiagnosed Diseases Network, Zenker M, Lee B, Biesecker LG.

Genet Med. 2018 Oct;20(10):1175-1185. doi: 10.1038/gim.2017.249. Epub 2018 Feb 22.

45.

Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study.

Mackley MP, Blair E, Parker M, Taylor JC, Watkins H, Ormondroyd E.

Eur J Hum Genet. 2018 May;26(5):652-659. doi: 10.1038/s41431-018-0106-6. Epub 2018 Feb 13.

46.

Prenatal and perinatal risks for late language emergence in a population-level sample of twins at age 2.

Taylor CL, Rice ML, Christensen D, Blair E, Zubrick SR.

BMC Pediatr. 2018 Feb 7;18(1):41. doi: 10.1186/s12887-018-1035-9.

47.

Role of dental hardware in oral cavity squamous cell carcinoma in the low-risk nonsmoker nondrinker population.

Yesensky JA, Hasina R, Wroblewski KE, Bellairs J, Gooi Z, Saloura V, Cipriani NA, Vokes EE, Portugal LG, Seiwert TY, Blair ED, Agrawal N.

Head Neck. 2018 Apr;40(4):784-792. doi: 10.1002/hed.25059. Epub 2018 Jan 22.

PMID:
29356169
48.

Efficacy, safety, and tolerability of dolutegravir-rilpivirine for the maintenance of virological suppression in adults with HIV-1: phase 3, randomised, non-inferiority SWORD-1 and SWORD-2 studies.

Llibre JM, Hung CC, Brinson C, Castelli F, Girard PM, Kahl LP, Blair EA, Angelis K, Wynne B, Vandermeulen K, Underwood M, Smith K, Gartland M, Aboud M.

Lancet. 2018 Mar 3;391(10123):839-849. doi: 10.1016/S0140-6736(17)33095-7. Epub 2018 Jan 6. Erratum in: Lancet. 2018 Feb 1;:.

PMID:
29310899
49.

Clinical acceptability of the sense_assess© kids: Children and youth perspectives.

Taylor S, McLean B, Blair E, Carey LM, Valentine J, Girdler S, Elliott C.

Aust Occup Ther J. 2018 Apr;65(2):79-88. doi: 10.1111/1440-1630.12429. Epub 2017 Dec 28.

PMID:
29282739
50.

"Not pathogenic until proven otherwise": perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project.

Ormondroyd E, Mackley MP, Blair E, Craft J, Knight JC, Taylor JC, Taylor J, Watkins H.

Genet Med. 2018 Mar;20(3):320-328. doi: 10.1038/gim.2017.157. Epub 2017 Oct 26.

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