Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
8 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Am J Hum Genet. 2019 Jul 3;105(1):151-165. doi: 10.1016/j.ajhg.2019.05.016. Epub 2019 Jun 20.
Am J Hum Genet. 2019.
PMID: 31230722
Free PMC article.
A family study implicates GBE1 in the etiology of autism spectrum disorder.
Fanjul-Fernández M, Brown NJ, Hickey P, Diakumis P, Rafehi H, Bozaoglu K, Green CC, Rattray A, Young S, Alhuzaimi D, Mountford HS, Gillies G, Lukic V, Vick T, Finlay K, Coe BP, Eichler EE, Delatycki MB, Wilson SJ, Bahlo M, Scheffer IE, Lockhart PJ.
Fanjul-Fernández M, et al. Among authors: diakumis p.
Hum Mutat. 2022 Jan;43(1):16-29. doi: 10.1002/humu.24289. Epub 2021 Oct 21.
Hum Mutat. 2022.
PMID: 34633740
Free PMC article.
Item in Clipboard
Genetic Analysis of Patients Who Experienced Awareness with Recall while under General Anesthesia.
Sleigh JW, Leslie K, Davidson AJ, Amor DJ, Diakumis P, Lukic V, Lockhart PJ, Bahlo M.
Sleigh JW, et al. Among authors: diakumis p.
Anesthesiology. 2019 Nov;131(5):974-982. doi: 10.1097/ALN.0000000000002877.
Anesthesiology. 2019.
PMID: 31335548
Free article.
Item in Clipboard
Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14.
Stutterd C, Diakumis P, Bahlo M, Fanjul Fernandez M, Leventer RJ, Delatycki M, Amor D, Chow CW, Stephenson S, Meisler MH, Mclean C, Lockhart PJ.
Stutterd C, et al. Among authors: diakumis p.
Ann Clin Transl Neurol. 2017 Nov 7;4(12):859-864. doi: 10.1002/acn3.487. eCollection 2017 Dec.
Ann Clin Transl Neurol. 2017.
PMID: 29296614
Free PMC article.
Item in Clipboard
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham JW, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Płoski R, Rokicki D, Pronicka E, Haller RG, Van Hove JL, Bahlo M, Mayr JA, Van Coster R, Prokisch H, Wittig I, Ryan MT, Thorburn DR, Taylor RW.
Alston CL, et al. Among authors: diakumis p.
Am J Hum Genet. 2016 Jul 7;99(1):217-27. doi: 10.1016/j.ajhg.2016.05.021. Epub 2016 Jun 30.
Am J Hum Genet. 2016.
PMID: 27374774
Free PMC article.
Item in Clipboard
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium; Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics; Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA.
Kaiser FJ, et al. Among authors: diakumis p.
Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8.
Hum Mol Genet. 2014.
PMID: 24403048
Free PMC article.
Item in Clipboard
Clonal multi-omics reveals Bcor as a negative regulator of emergency dendritic cell development.
Tian L, Tomei S, Schreuder J, Weber TS, Amann-Zalcenstein D, Lin DS, Tran J, Audiger C, Chu M, Jarratt A, Willson T, Hilton A, Pang ES, Patton T, Kelly M, Su S, Gouil Q, Diakumis P, Bahlo M, Sargeant T, Kats LM, Hodgkin PD, O'Keeffe M, Ng AP, Ritchie ME, Naik SH.
Tian L, et al. Among authors: diakumis p.
Immunity. 2021 Jun 8;54(6):1338-1351.e9. doi: 10.1016/j.immuni.2021.03.012. Epub 2021 Apr 15.
Immunity. 2021.
PMID: 33862015
Free article.
Item in Clipboard
KCTD1 and Scalp-Ear-Nipple ('Finlay-Marks') syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV α3 and α4 chains.
Wang D, Trevillian P, May S, Diakumis P, Wang Y, Colville D, Bahlo M, Greferath U, Fletcher E, Young B, Mack HG, Savige J.
Wang D, et al. Among authors: diakumis p.
Ophthalmic Genet. 2023 Feb;44(1):19-27. doi: 10.1080/13816810.2022.2144900. Epub 2022 Dec 29.
Ophthalmic Genet. 2023.
PMID: 36579937
Item in Clipboard
Cite
Cite