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148 results

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Page 1
A flexible computational pipeline for research analyses of unsolved clinical exome cases.
Lassmann T, Francis RW, Weeks A, Tang D, Jamieson SE, Broley S, Dawkins HJS, Dreyer L, Goldblatt J, Groza T, Kamien B, Kiraly-Borri C, McKenzie F, Murphy L, Pachter N, Pathak G, Poulton C, Samanek A, Skoss R, Slee J, Townshend S, Ward M, Baynam GS, Blackwell JM. Lassmann T, et al. Among authors: poulton c. NPJ Genom Med. 2020 Dec 10;5(1):54. doi: 10.1038/s41525-020-00161-w. NPJ Genom Med. 2020. PMID: 33303739 Free PMC article.
Initiating an undiagnosed diseases program in the Western Australian public health system.
Baynam G, Broley S, Bauskis A, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Schofield L, Helmholz P, Palmer R, Kung S, Walker CE, Molster C, Lewis B, Mina K, Beilby J, Pathak G, Poulton C, Groza T, Zankl A, Roscioli T, Dinger ME, Mattick JS, Gahl W, Groft S, Tifft C, Taruscio D, Lasko P, Kosaki K, Wilhelm H, Melegh B, Carapetis J, Jana S, Chaney G, Johns A, Owen PW, Daly F, Weeramanthri T, Dawkins H, Goldblatt J. Baynam G, et al. Among authors: poulton c. Orphanet J Rare Dis. 2017 May 3;12(1):83. doi: 10.1186/s13023-017-0619-z. Orphanet J Rare Dis. 2017. PMID: 28468665 Free PMC article.
A review of structural brain abnormalities in Pallister-Killian syndrome.
Poulton C, Baynam G, Yates C, Alinejad-Rokny H, Williams S, Wright H, Woodward KJ, Sivamoorthy S, Peverall J, Shipman P, Ravine D, Beilby J, Heng JI. Poulton C, et al. Mol Genet Genomic Med. 2018 Jan;6(1):92-98. doi: 10.1002/mgg3.351. Epub 2017 Dec 9. Mol Genet Genomic Med. 2018. PMID: 29222831 Free PMC article. Review.
Silver Russel syndrome in an aboriginal patient from Australia.
Poulton C, Azmanov D, Atkinson V, Beilby J, Ewans L, Gration D, Dreyer L, Shetty V, Peake C, McCormack E, Palmer R, Lewis B, Dawkins H, Broley S, Baynam G. Poulton C, et al. Am J Med Genet A. 2018 Dec;176(12):2561-2563. doi: 10.1002/ajmg.a.40502. Epub 2018 Aug 27. Am J Med Genet A. 2018. PMID: 30152198
Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea.
Poulton C, Pathak G, Mina K, Lassman T, Azmanov DN, McCormack E, Broley S, Dreyer L, Gration D, Taylor E, OSullivan M, Siafarikis A, Ravikumara M, Dawkins H, Pachter N, Baynam G. Poulton C, et al. Gene. 2019 May 30;699:110-114. doi: 10.1016/j.gene.2019.02.059. Epub 2019 Mar 4. Gene. 2019. PMID: 30844479 Free PMC article. Review.
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
Nellåker C, Alkuraya FS, Baynam G, Bernier RA, Bernier FPJ, Boulanger V, Brudno M, Brunner HG, Clayton-Smith J, Cogné B, Dawkins HJS, deVries BBA, Douzgou S, Dudding-Byth T, Eichler EE, Ferlaino M, Fieggen K, Firth HV, FitzPatrick DR, Gration D, Groza T, Haendel M, Hallowell N, Hamosh A, Hehir-Kwa J, Hitz MP, Hughes M, Kini U, Kleefstra T, Kooy RF, Krawitz P, Küry S, Lees M, Lyon GJ, Lyonnet S, Marcadier JL, Meyn S, Moslerová V, Politei JM, Poulton CC, Raymond FL, Reijnders MRF, Robinson PN, Romano C, Rose CM, Sainsbury DCG, Schofield L, Sutton VR, Turnovec M, Van Dijck A, Van Esch H, Wilkie AOM; Minerva Consortium. Nellåker C, et al. Among authors: poulton cc. Front Genet. 2019 Jul 29;10:611. doi: 10.3389/fgene.2019.00611. eCollection 2019. Front Genet. 2019. PMID: 31417602 Free PMC article.
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy.
Johannesen KM, Mitter D, Janowski R, Roth C, Toulouse J, Poulat AL, Ville DM, Chatron N, Brilstra E, Geleijns K, Born AP, McLean S, Nugent K, Baynam G, Poulton C, Dreyer L, Gration D, Schulz S, Dieckmann A, Helbig KL, Merkenschlager A, Jamra R, Finck A, Gardella E, Hjalgrim H, Mirzaa G, Brancati F, Bierhals T, Denecke J, Hempel M, Lemke JR, Rubboli G, Muschke P, Guerrini R, Vetro A, Niessing D, Lesca G, Møller RS. Johannesen KM, et al. Among authors: poulton c. Neurol Genet. 2019 Dec 10;5(6):e373. doi: 10.1212/NXG.0000000000000373. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 32042906 Free PMC article.
Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.
Singh R, Cohen ASA, Poulton C, Hjortshøj TD, Akahira-Azuma M, Mendiratta G, Khan WA, Azmanov DN, Woodward KJ, Kirchhoff M, Shi L, Edelmann L, Baynam G, Scott SA, Jabs EW. Singh R, et al. Among authors: poulton c. Cold Spring Harb Mol Case Stud. 2021 Jun 11;7(3):a005991. doi: 10.1101/mcs.a005991. Print 2021 Jun. Cold Spring Harb Mol Case Stud. 2021. PMID: 34117072 Free PMC article.
148 results