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Items: 1 to 50 of 219

1.

RAB18 Deficiency.

Handley M, Sheridan E.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2018 Jan 4.

2.

Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease.

Green L, Berry IR, Childs AM, McCullagh H, Jose S, Warren D, Craven I, Camm N, Prescott K, van der Knaap MS, Sheridan E, Livingston JH.

Neuropediatrics. 2017 Dec 18. doi: 10.1055/s-0037-1608921. [Epub ahead of print] No abstract available.

PMID:
29253910
3.

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.

Hartill VL, van de Hoek G, Patel MP, Little R, Watson CM, Berry IR, Shoemark A, Abdelmottaleb D, Parkes E, Bacchelli C, Szymanska K, Knoers NV, Scambler PJ, Ueffing M, Boldt K, Yates R, Winyard PJ, Adler B, Moya E, Hattingh L, Shenoy A, Hogg C, Sheridan E, Roepman R, Norris D, Mitchison HM, Giles RH, Johnson CA.

Hum Mol Genet. 2018 Feb 1;27(3):529-545. doi: 10.1093/hmg/ddx422.

PMID:
29228333
4.

Resurgence of scarlet fever in England, 2014-16: a population-based surveillance study.

Lamagni T, Guy R, Chand M, Henderson KL, Chalker V, Lewis J, Saliba V, Elliot AJ, Smith GE, Rushton S, Sheridan EA, Ramsay M, Johnson AP.

Lancet Infect Dis. 2018 Feb;18(2):180-187. doi: 10.1016/S1473-3099(17)30693-X. Epub 2017 Nov 27.

PMID:
29191628
5.

Selective Charging Behavior in an Ionic Mixture Electrolyte-Supercapacitor System for Higher Energy and Power.

Wang X, Mehandzhiyski AY, Arstad B, Van Aken KL, Mathis TS, Gallegos A, Tian Z, Ren D, Sheridan E, Grimes BA, Jiang DE, Wu J, Gogotsi Y, Chen.

J Am Chem Soc. 2017 Dec 27;139(51):18681-18687. doi: 10.1021/jacs.7b10693. Epub 2017 Dec 14.

PMID:
29185334
6.

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

Nguyen TTM, Murakami Y, Sheridan E, Ehresmann S, Rousseau J, St-Denis A, Chai G, Ajeawung NF, Fairbrother L, Reimschisel T, Bateman A, Berry-Kravis E, Xia F, Tardif J, Parry DA, Logan CV, Diggle C, Bennett CP, Hattingh L, Rosenfeld JA, Perry MS, Parker MJ, Le Deist F, Zaki MS, Ignatius E, Isohanni P, Lönnqvist T, Carroll CJ, Johnson CA, Gleeson JG, Kinoshita T, Campeau PM.

Am J Hum Genet. 2017 Nov 2;101(5):856-865. doi: 10.1016/j.ajhg.2017.09.020.

PMID:
29100095
7.

Evidence Based Review of Pharmacotherapy for Opioid-Induced Constipation in Noncancer Pain.

Murphy JA, Sheridan EA.

Ann Pharmacother. 2018 Apr;52(4):370-379. doi: 10.1177/1060028017739637. Epub 2017 Nov 2.

PMID:
29092627
8.

High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.

Shoemark A, Moya E, Hirst RA, Patel MP, Robson EA, Hayward J, Scully J, Fassad MR, Lamb W, Schmidts M, Dixon M, Patel-King RS, Rogers AV, Rutman A, Jackson CL, Goggin P, Rubbo B, Ollosson S, Carr S, Walker W, Adler B, Loebinger MR, Wilson R, Bush A, Williams H, Boustred C, Jenkins L, Sheridan E, Chung EMK, Watson CM, Cullup T, Lucas JS, Kenia P, O'Callaghan C, King SM, Hogg C, Mitchison HM.

Thorax. 2018 Feb;73(2):157-166. doi: 10.1136/thoraxjnl-2017-209999. Epub 2017 Aug 8.

PMID:
28790179
9.

Optimizing Transitions of Care - Hospital to Community.

Sheridan E, Thompson C, Pinheiro T, Robinson N, Davies K, Whitmore N.

Healthc Q. 2017;20(1):45-49.

PMID:
28550700
10.

A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development.

Diggle CP, Martinez-Garay I, Molnar Z, Brinkworth MH, White E, Fowler E, Hughes R, Hayward BE, Carr IM, Watson CM, Crinnion L, Asipu A, Woodman B, Coletta PL, Markham AF, Dear TN, Bonthron DT, Peckham M, Morrison EE, Sheridan E.

PLoS One. 2017 Apr 7;12(4):e0174264. doi: 10.1371/journal.pone.0174264. eCollection 2017.

11.

Epidemiology of Escherichia coli bacteraemia in England: results of an enhanced sentinel surveillance programme.

Abernethy J, Guy R, Sheridan EA, Hopkins S, Kiernan M, Wilcox MH, Johnson AP, Hope R; E. coli bacteraemia sentinel surveillance group.

J Hosp Infect. 2017 Apr;95(4):365-375. doi: 10.1016/j.jhin.2016.12.008. Epub 2016 Dec 16.

PMID:
28190700
12.

Neuropsychological Test Performance to Enhance Identification of Subjects at Clinical High Risk for Psychosis and to Be Most Promising for Predictive Algorithms for Conversion to Psychosis: A Meta-Analysis.

Hauser M, Zhang JP, Sheridan EM, Burdick KE, Mogil R, Kane JM, Auther A, Carrión RE, Cornblatt BA, Correll CU.

J Clin Psychiatry. 2017 Jan;78(1):e28-e40. doi: 10.4088/JCP.15r10197.

PMID:
28129494
13.

Impact of national policies on the microbial aetiology of surgical site infections in acute NHS hospitals in England: analysis of trends between 2000 and 2013 using multi-centre prospective cohort data.

Elgohari S, Wilson J, Saei A, Sheridan EA, Lamagni T.

Epidemiol Infect. 2017 Apr;145(5):957-969. doi: 10.1017/S0950268816003058. Epub 2016 Dec 28.

PMID:
28027714
14.

Boosted Supercapacitive Energy with High Rate Capability of aCarbon Framework with Hierarchical Pore Structure in an Ionic Liquid.

Wang X, Zhou H, Lou F, Li Y, Buan ME, Duan X, Walmsley JC, Sheridan E, Chen.

ChemSusChem. 2016 Nov 9;9(21):3093-3101. doi: 10.1002/cssc.201600779. Epub 2016 Oct 18.

PMID:
27754604
15.

A genome-wide association study identifies risk loci for childhood acute lymphoblastic leukemia at 10q26.13 and 12q23.1.

Vijayakrishnan J, Kumar R, Henrion MY, Moorman AV, Rachakonda PS, Hosen I, da Silva Filho MI, Holroyd A, Dobbins SE, Koehler R, Thomsen H, Irving JA, Allan JM, Lightfoot T, Roman E, Kinsey SE, Sheridan E, Thompson PD, Hoffmann P, Nöthen MM, Heilmann-Heimbach S, Jöckel KH, Greaves M, Harrison CJ, Bartram CR, Schrappe M, Stanulla M, Hemminki K, Houlston RS.

Leukemia. 2017 Mar;31(3):573-579. doi: 10.1038/leu.2016.271. Epub 2016 Oct 3.

16.

Descriptive epidemiology of Escherichia coli bacteraemia in England, April 2012 to March 2014.

Bou-Antoun S, Davies J, Guy R, Johnson AP, Sheridan EA, Hope RJ.

Euro Surveill. 2016 Sep 1;21(35). doi: 10.2807/1560-7917.ES.2016.21.35.30329.

17.

High bandwidth on-chip capacitive tuning of microtoroid resonators.

Baker CG, Bekker C, McAuslan DL, Sheridan E, Bowen WP.

Opt Express. 2016 Sep 5;24(18):20400-12. doi: 10.1364/OE.24.020400.

PMID:
27607646
18.

A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome.

Watson CM, Crinnion LA, Harrison SM, Lascelles C, Antanaviciute A, Carr IM, Bonthron DT, Sheridan E.

PLoS One. 2016 Jun 7;11(6):e0157075. doi: 10.1371/journal.pone.0157075. eCollection 2016.

19.

Castration-Resistant Prostate Cancer Tissue Acquisition From Bone Metastases for Molecular Analyses.

Lorente D, Omlin A, Zafeiriou Z, Nava-Rodrigues D, Pérez-López R, Pezaro C, Mehra N, Sheridan E, Figueiredo I, Riisnaes R, Miranda S, Crespo M, Flohr P, Mateo J, Altavilla A, Ferraldeschi R, Bianchini D, Attard G, Tunariu N, de Bono J.

Clin Genitourin Cancer. 2016 Dec;14(6):485-493. doi: 10.1016/j.clgc.2016.04.016. Epub 2016 May 5.

20.

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.

Diggle CP, Sukoff Rizzo SJ, Popiolek M, Hinttala R, Schülke JP, Kurian MA, Carr IM, Markham AF, Bonthron DT, Watson C, Sharif SM, Reinhart V, James LC, Vanase-Frawley MA, Charych E, Allen M, Harms J, Schmidt CJ, Ng J, Pysden K, Strick C, Vieira P, Mankinen K, Kokkonen H, Kallioinen M, Sormunen R, Rinne JO, Johansson J, Alakurtti K, Huilaja L, Hurskainen T, Tasanen K, Anttila E, Marques TR, Howes O, Politis M, Fahiminiya S, Nguyen KQ, Majewski J, Uusimaa J, Sheridan E, Brandon NJ.

Am J Hum Genet. 2016 Apr 7;98(4):735-43. doi: 10.1016/j.ajhg.2016.03.015.

21.

Corrigendum: Mutations in the transcriptional repressor REST predispose to Wilms tumor.

Mahamdallie SS, Hanks S, Karlin KL, Zachariou A, Perdeaux ER, Ruark E, Shaw CA, Renwick A, Ramsay E, Yost S, Elliott A, Birch J, Capra M, Gray J, Hale J, Kingston J, Levitt G, McLean T, Sheridan E, Renwick A, Seal S, Stiller C, Sebire N, Westbrook TF, Rahman N.

Nat Genet. 2016 Apr;48(4):473. doi: 10.1038/ng0329-473d. No abstract available.

PMID:
27023775
22.

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, Murakami Y.

Am J Hum Genet. 2016 Apr 7;98(4):615-26. doi: 10.1016/j.ajhg.2016.02.007. Epub 2016 Mar 17.

23.

Correlates of Subjective Caregiver Strain in Caregivers of Youth Evaluated in a Pediatric Psychiatric Emergency Room.

Molteni S, Carbon M, Lops J, Soto EC, Cervesi C, Sheridan EM, Galling B, Saito E, Krakower S, Dicker R, Foley C, Fornari V, Balottin U, Correll CU.

J Child Adolesc Psychopharmacol. 2017 Jun;27(5):451-461. doi: 10.1089/cap.2015.0028. Epub 2016 Mar 15.

PMID:
26978127
24.

Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain.

Zhang S, Malik Sharif S, Chen YC, Valente EM, Ahmed M, Sheridan E, Bennett C, Woods G.

J Med Genet. 2016 Aug;53(8):533-5. doi: 10.1136/jmedgenet-2015-103646. Epub 2016 Mar 14.

25.

Health and population effects of rare gene knockouts in adult humans with related parents.

Narasimhan VM, Hunt KA, Mason D, Baker CL, Karczewski KJ, Barnes MR, Barnett AH, Bates C, Bellary S, Bockett NA, Giorda K, Griffiths CJ, Hemingway H, Jia Z, Kelly MA, Khawaja HA, Lek M, McCarthy S, McEachan R, O'Donnell-Luria A, Paigen K, Parisinos CA, Sheridan E, Southgate L, Tee L, Thomas M, Xue Y, Schnall-Levin M, Petkov PM, Tyler-Smith C, Maher ER, Trembath RC, MacArthur DG, Wright J, Durbin R, van Heel DA.

Science. 2016 Apr 22;352(6284):474-7. doi: 10.1126/science.aac8624. Epub 2016 Mar 3.

26.

Attenuated psychotic and basic symptom characteristics in adolescents with ultra-high risk criteria for psychosis, other non-psychotic psychiatric disorders and early-onset psychosis.

Lo Cascio N, Saba R, Hauser M, Vernal DL, Al-Jadiri A, Borenstein Y, Sheridan EM, Kishimoto T, Armando M, Vicari S, Fiori Nastro P, Girardi P, Gebhardt E, Kane JM, Auther A, Carrión RE, Cornblatt BA, Schimmelmann BG, Schultze-Lutter F, Correll CU.

Eur Child Adolesc Psychiatry. 2016 Oct;25(10):1091-102. doi: 10.1007/s00787-016-0832-7. Epub 2016 Feb 26.

PMID:
26921232
27.

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia.

Watson CM, Crinnion LA, Murphy H, Newbould M, Harrison SM, Lascelles C, Antanaviciute A, Carr IM, Sheridan E, Bonthron DT, Smith A.

J Med Genet. 2016 Apr;53(4):264-9. doi: 10.1136/jmedgenet-2015-103620. Epub 2016 Jan 5.

28.

Frequency and correlates of DSM-5 attenuated psychosis syndrome in a sample of adolescent inpatients with nonpsychotic psychiatric disorders.

Gerstenberg M, Hauser M, Al-Jadiri A, Sheridan EM, Kishimoto T, Borenstein Y, Vernal DL, David L, Saito E, Landers SE, Carella M, Singh S, Carbon M, Jiménez-Fernández S, Birnbaum ML, Auther A, Carrión RE, Cornblatt BA, Kane JM, Walitza S, Correll CU.

J Clin Psychiatry. 2015 Nov;76(11):e1449-58. doi: 10.4088/JCP.14m09435.

PMID:
26646040
29.

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.

Logan CV, Cossins J, Rodríguez Cruz PM, Parry DA, Maxwell S, Martínez-Martínez P, Riepsaame J, Abdelhamed ZA, Lake AV, Moran M, Robb S, Chow G, Sewry C, Hopkins PM, Sheridan E, Jayawant S, Palace J, Johnson CA, Beeson D.

Am J Hum Genet. 2015 Dec 3;97(6):878-85. doi: 10.1016/j.ajhg.2015.10.017. Epub 2015 Nov 25.

30.

Mutations in the transcriptional repressor REST predispose to Wilms tumor.

Mahamdallie SS, Hanks S, Karlin KL, Zachariou A, Perdeaux ER, Ruark E, Shaw CA, Renwick A, Ramsay E, Yost S, Elliott A, Birch J, Capra M, Gray J, Hale J, Kingston J, Levitt G, McLean T, Sheridan E, Renwick A, Seal S, Stiller C, Sebire N, Westbrook TF, Rahman N.

Nat Genet. 2015 Dec;47(12):1471-4. doi: 10.1038/ng.3440. Epub 2015 Nov 9. Erratum in: Nat Genet. 2016 Apr;48(4):473.

PMID:
26551668
31.

The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A.

Vijayakrishnan J, Henrion M, Moorman AV, Fiege B, Kumar R, da Silva Filho MI, Holroyd A, Koehler R, Thomsen H, Irving JA, Allan JM, Lightfoot T, Roman E, Kinsey SE, Sheridan E, Thompson PD, Hoffmann P, Nöthen MM, Mühleisen TW, Eisele L, Bartram CR, Schrappe M, Greaves M, Hemminki K, Harrison CJ, Stanulla M, Houlston RS.

Sci Rep. 2015 Oct 14;5:15065. doi: 10.1038/srep15065.

32.

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.

Hollstein R, Parry DA, Nalbach L, Logan CV, Strom TM, Hartill VL, Carr IM, Korenke GC, Uppal S, Ahmed M, Wieland T, Markham AF, Bennett CP, Gillessen-Kaesbach G, Sheridan EG, Kaiser FJ, Bonthron DT.

J Med Genet. 2015 Dec;52(12):797-803. doi: 10.1136/jmedgenet-2015-103344. Epub 2015 Sep 30.

33.

Outcome of Youth with Early-Phase Schizophrenia-Spectrum Disorders and Psychosis Not Otherwise Specified Treated with Second-Generation Antipsychotics: 12 Week Results from a Prospective, Naturalistic Cohort Study.

Vernal DL, Kapoor S, Al-Jadiri A, Sheridan EM, Borenstein Y, Mormando C, David L, Singh S, Seidman AJ, Carbon M, Gerstenberg M, Saito E, Kane JM, Steinhausen HC, Correll CU.

J Child Adolesc Psychopharmacol. 2015 Sep;25(7):535-47. doi: 10.1089/cap.2014.0164.

34.

Neuromotor Adverse Effects in 342 Youth During 12 Weeks of Naturalistic Treatment With 5 Second-Generation Antipsychotics.

Carbon M, Kapoor S, Sheridan E, Al-Jadiri A, Azzo S, Sarkaria T, Kane JM, Saito E, Correll CU.

J Am Acad Child Adolesc Psychiatry. 2015 Sep;54(9):718-727.e3. doi: 10.1016/j.jaac.2015.06.015. Epub 2015 Jul 7.

PMID:
26299293
35.

Impact of obesity on the risk of wound infection following surgery: results from a nationwide prospective multicentre cohort study in England.

Thelwall S, Harrington P, Sheridan E, Lamagni T.

Clin Microbiol Infect. 2015 Nov;21(11):1008.e1-8. doi: 10.1016/j.cmi.2015.07.003. Epub 2015 Jul 18.

36.

Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome.

Kelmemi W, Teeuw ME, Bochdanovits Z, Ouburg S, Jonker MA, Alkuraya F, Hashem M, Kayserili H, van Haeringen A, Sheridan E, Masri A, Cobben JM, Rizzu P, Kostense PJ, Dommering CJ, Henneman L, Bouhamed-Chaabouni H, Heutink P, Ten Kate LP, Cornel MC.

BMC Med Genet. 2015 Jul 20;16:50. doi: 10.1186/s12881-015-0191-0.

37.

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.

Bodo S, Colas C, Buhard O, Collura A, Tinat J, Lavoine N, Guilloux A, Chalastanis A, Lafitte P, Coulet F, Buisine MP, Ilencikova D, Ruiz-Ponte C, Kinzel M, Grandjouan S, Brems H, Lejeune S, Blanché H, Wang Q, Caron O, Cabaret O, Svrcek M, Vidaud D, Parfait B, Verloes A, Knappe UJ, Soubrier F, Mortemousque I, Leis A, Auclair-Perrossier J, Frébourg T, Fléjou JF, Entz-Werle N, Leclerc J, Malka D, Cohen-Haguenauer O, Goldberg Y, Gerdes AM, Fedhila F, Mathieu-Dramard M, Hamelin R, Wafaa B, Gauthier-Villars M, Bourdeaut F, Sheridan E, Vasen H, Brugières L, Wimmer K, Muleris M, Duval A; European Consortium “Care for CMMRD”.

Gastroenterology. 2015 Oct;149(4):1017-29.e3. doi: 10.1053/j.gastro.2015.06.013. Epub 2015 Jun 25.

PMID:
26116798
38.

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.

El-Asrag ME, Sergouniotis PI, McKibbin M, Plagnol V, Sheridan E, Waseem N, Abdelhamed Z, McKeefry D, Van Schil K, Poulter JA; UK Inherited Retinal Disease Consortium, Johnson CA, Carr IM, Leroy BP, De Baere E, Inglehearn CF, Webster AR, Toomes C, Ali M.

Am J Hum Genet. 2015 Jun 4;96(6):948-54. doi: 10.1016/j.ajhg.2015.04.006. Epub 2015 May 14.

39.

Boosting properties of 3D binder-free manganese oxide anodes by preformation of a solid electrolyte interphase.

Zhou H, Wang X, Sheridan E, Chen D.

ChemSusChem. 2015 Apr 24;8(8):1368-80. doi: 10.1002/cssc.201403393. Epub 2015 Mar 11.

PMID:
25760685
40.

Thirty day all-cause mortality in patients with Escherichia coli bacteraemia in England.

Abernethy JK, Johnson AP, Guy R, Hinton N, Sheridan EA, Hope RJ.

Clin Microbiol Infect. 2015 Mar;21(3):251.e1-8. doi: 10.1016/j.cmi.2015.01.001. Epub 2015 Jan 14.

41.

Diagnosis of fetal submicroscopic chromosomal abnormalities in failed array CGH samples: copy number by sequencing as an alternative to microarrays for invasive fetal testing.

Cohen K, Tzika A, Wood H, Berri S, Roberts P, Mason G, Sheridan E.

Ultrasound Obstet Gynecol. 2015 Apr;45(4):394-401. doi: 10.1002/uog.14767.

42.

HEATR2 plays a conserved role in assembly of the ciliary motile apparatus.

Diggle CP, Moore DJ, Mali G, zur Lage P, Ait-Lounis A, Schmidts M, Shoemark A, Garcia Munoz A, Halachev MR, Gautier P, Yeyati PL, Bonthron DT, Carr IM, Hayward B, Markham AF, Hope JE, von Kriegsheim A, Mitchison HM, Jackson IJ, Durand B, Reith W, Sheridan E, Jarman AP, Mill P.

PLoS Genet. 2014 Sep 18;10(9):e1004577. doi: 10.1371/journal.pgen.1004577. eCollection 2014 Sep.

43.

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.

Hjeij R, Onoufriadis A, Watson CM, Slagle CE, Klena NT, Dougherty GW, Kurkowiak M, Loges NT, Diggle CP, Morante NF, Gabriel GC, Lemke KL, Li Y, Pennekamp P, Menchen T, Konert F, Marthin JK, Mans DA, Letteboer SJ, Werner C, Burgoyne T, Westermann C, Rutman A, Carr IM, O'Callaghan C, Moya E, Chung EM; UK10K Consortium, Sheridan E, Nielsen KG, Roepman R, Bartscherer K, Burdine RD, Lo CW, Omran H, Mitchison HM.

Am J Hum Genet. 2014 Sep 4;95(3):257-74. doi: 10.1016/j.ajhg.2014.08.005.

44.

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Watson CM, El-Asrag M, Parry DA, Morgan JE, Logan CV, Carr IM, Sheridan E, Charlton R, Johnson CA, Taylor G, Toomes C, McKibbin M, Inglehearn CF, Ali M.

PLoS One. 2014 Aug 18;9(8):e104281. doi: 10.1371/journal.pone.0104281. eCollection 2014.

45.

Acceptability of prenatal testing and termination of pregnancy in Pakistan.

Jafri H, Hewison J, Sheridan E, Ahmed S.

J Community Genet. 2015 Jan;6(1):29-37. doi: 10.1007/s12687-014-0198-9. Epub 2014 Aug 1.

46.

Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome.

Watson CM, Crinnion LA, Tzika A, Mills A, Coates A, Pendlebury M, Hewitt S, Harrison SM, Daly C, Roberts P, Carr IM, Sheridan EG, Bonthron DT.

Am J Med Genet A. 2014 Oct;164A(10):2649-55. doi: 10.1002/ajmg.a.36679. Epub 2014 Jul 16.

47.

Ultrasensitive optomechanical magnetometry.

Forstner S, Sheridan E, Knittel J, Humphreys CL, Brawley GA, Rubinsztein-Dunlop H, Bowen WP.

Adv Mater. 2014 Sep;26(36):6348-53. doi: 10.1002/adma.201401144. Epub 2014 Jun 2.

PMID:
24889714
48.

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

Mirzaa G, Parry DA, Fry AE, Giamanco KA, Schwartzentruber J, Vanstone M, Logan CV, Roberts N, Johnson CA, Singh S, Kholmanskikh SS, Adams C, Hodge RD, Hevner RF, Bonthron DT, Braun KPJ, Faivre L, Rivière JB, St-Onge J, Gripp KW, Mancini GM, Pang K, Sweeney E, van Esch H, Verbeek N, Wieczorek D, Steinraths M, Majewski J; FORGE Canada Consortium, Boycot KM, Pilz DT, Ross ME, Dobyns WB, Sheridan EG.

Nat Genet. 2014 May;46(5):510-515. doi: 10.1038/ng.2948. Epub 2014 Apr 6.

49.

Analysis of the Born in Bradford birth cohort--authors' reply.

Sheridan E, Wright J, Corry P, Oddie S, Small N, Parslow RC.

Lancet. 2014 Jan 11;383(9912):123. doi: 10.1016/S0140-6736(14)60020-9. No abstract available.

PMID:
24411964
50.

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.

Logan CV, Szabadkai G, Sharpe JA, Parry DA, Torelli S, Childs AM, Kriek M, Phadke R, Johnson CA, Roberts NY, Bonthron DT, Pysden KA, Whyte T, Munteanu I, Foley AR, Wheway G, Szymanska K, Natarajan S, Abdelhamed ZA, Morgan JE, Roper H, Santen GW, Niks EH, van der Pol WL, Lindhout D, Raffaello A, De Stefani D, den Dunnen JT, Sun Y, Ginjaar I, Sewry CA, Hurles M, Rizzuto R; UK10K Consortium, Duchen MR, Muntoni F, Sheridan E.

Nat Genet. 2014 Feb;46(2):188-93. doi: 10.1038/ng.2851. Epub 2013 Dec 15.

PMID:
24336167

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