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Whole genome sequencing in the diagnosis of primary ciliary dyskinesia.
Wheway G, Thomas NS, Carroll M, Coles J, Doherty R; Genomics England Research Consortium; Goggin P, Green B, Harris A, Hunt D, Jackson CL, Lord J, Mennella V, Thompson J, Walker WT, Lucas JS. Wheway G, et al. Among authors: hunt d. BMC Med Genomics. 2021 Sep 23;14(1):234. doi: 10.1186/s12920-021-01084-w. BMC Med Genomics. 2021. PMID: 34556108 Free PMC article.
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Shoemark A, Rubbo B, Legendre M, Fassad MR, Haarman EG, Best S, Bon ICM, Brandsma J, Burgel PR, Carlsson G, Carr SB, Carroll M, Edwards M, Escudier E, Honoré I, Hunt D, Jouvion G, Loebinger MR, Maitre B, Morris-Rosendahl D, Papon JF, Parsons CM, Patel MP, Thomas NS, Thouvenin G, Walker WT, Wilson R, Hogg C, Mitchison HM, Lucas JS. Shoemark A, et al. Among authors: hunt d. Eur Respir J. 2021 Aug 5;58(2):2002359. doi: 10.1183/13993003.02359-2020. Print 2021 Aug. Eur Respir J. 2021. PMID: 33479112 Free article.
Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.
Pagnamenta AT, Yu J, Evans J, Twiss P; Genomics England Research Consortium; Musculoskeletal GeCIP MDT; Offiah AC, Wafik M, Mehta SG, Javaid MK, Smithson SF, Taylor JC. Pagnamenta AT, et al. J Med Genet. 2023 May;60(5):505-510. doi: 10.1136/jmg-2022-108753. Epub 2022 Nov 21. J Med Genet. 2023. PMID: 36411030 Free PMC article.
A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service.
Seaby EG, Thomas NS, Hunt D, Baralle D, Rehm HL, O'Donnell-Luria A, Ennis S. Seaby EG, et al. Among authors: hunt d. medRxiv [Preprint]. 2023 Feb 1:2023.01.31.23285025. doi: 10.1101/2023.01.31.23285025. medRxiv. 2023. Update in: Healthcare (Basel). 2023 Dec 15;11(24):3179. doi: 10.3390/healthcare11243179. PMID: 36778464 Free PMC article. Updated. Preprint.
First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
Prapa M, Lago-Docampo M, Swietlik EM, Montani D, Eyries M, Humbert M, Welch CL, Chung WK, Berger RMF, Bogaard HJ, Danhaive O, Escribano-Subías P, Gall H, Girerd B, Hernandez-Gonzalez I, Holden S, Hunt D, Jansen SMA, Kerstjens-Frederikse W, Kiely DG, Lapunzina P, McDermott J, Moledina S, Pepke-Zaba J, Polwarth GJ, Schotte G, Tenorio-Castaño J, Thompson AAR, Wharton J, Wort SJ, Megy K, Mapeta R, Treacy CM, Martin JM, Li W, Swift AJ, Upton PD, Morrell NW, Gräf S, Valverde D; NIHR BioResource for Translational Research–Rare Diseases; National Cohort Study of Idiopathic and Heritable PAH; PAH Biobank Enrolling Centers’ Investigators. Prapa M, et al. Among authors: hunt d. Am J Respir Crit Care Med. 2022 Dec 15;206(12):1522-1533. doi: 10.1164/rccm.202203-0485OC. Am J Respir Crit Care Med. 2022. PMID: 35852389 Free PMC article.
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
Gazdagh G, Hunt D, Gonzalez AMC, Rodriguez MP, Chaudhry A, Madruga M, Vansenne F, Shears D, Curie A, Stattin EL, Anderlid BM, Trajkova S, Angelovska ES, McWilliam C, Wyatt PR, O'Driscoll M, Atton G, Bergman AK, Zacher P, Mewasingh LD, López AG, Alonso-Luengo O, Wai HA, Rohde O, Boiroux P, Debant A, Schmidt S, Baralle D. Gazdagh G, et al. Among authors: hunt d. Am J Med Genet A. 2023 Jul;191(7):1722-1740. doi: 10.1002/ajmg.a.63194. Epub 2023 Mar 29. Am J Med Genet A. 2023. PMID: 36987741 Review.
Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders.
Berger E, Jauss RT, Ranells JD, Zonic E, von Wintzingerode L, Wilson A, Wagner J, Tuttle A, Thomas-Wilson A, Schulte B, Rabin R, Pappas J, Odgis JA, Muthaffar O, Mendez-Fadol A, Lynch M, Levy J, Lehalle D, Lake NJ, Krey I, Kozenko M, Knierim E, Jouret G, Jobanputra V, Isidor B, Hunt D, Hsieh TC, Holtz AM, Haack TB, Gold NB, Dunstheimer D, Donge M, Deb W, De La Rosa Poueriet KA, Danyel M, Christodoulou J, Chopra S, Callewaert B, Busche A, Brick L, Bigay BG, Arlt M, Anikar SS, Almohammal MN, Almanza D, Alhashem A, Bertoli-Avella A, Sticht H, Jamra RA. Berger E, et al. Among authors: hunt d. Genet Med. 2024 Nov 11:101326. doi: 10.1016/j.gim.2024.101326. Online ahead of print. Genet Med. 2024. PMID: 39540377 Free article.
Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo.
Bonnet M, Roche F, Fagotto-Kaufmann C, Gazdagh G, Truong I, Comunale F, Barbosa S, Bonhomme M, Nafati N, Hunt D, Rodriguez MP, Chaudhry A, Shears D, Madruga M, Vansenne F, Curie A, Kajava AV, Baralle D, Fassier C, Debant A, Schmidt S. Bonnet M, et al. Among authors: hunt d. Mol Psychiatry. 2023 Apr;28(4):1527-1544. doi: 10.1038/s41380-023-01963-x. Epub 2023 Jan 30. Mol Psychiatry. 2023. PMID: 36717740
2,265 results