Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Swietlik, EM"'
Autor:
Kariotis, S, Jammeh, E, Swietlik, EM, Pickworth, JA, Rhodes, CJ, Otero, P, Wharton, J, Iremonger, J, Dunning, MJ, Pandya, D, Mascarenhas, TS, Errington, N, Thompson, AAR, Romanoski, CE, Rischard, F, Garcia, JGN, Yuan, JX-J, An, T-HS, Desai, AA, Coghlan, G, Lordan, J, Corris, PA, Howard, LS, Condliffe, R, Kiely, DG, Church, C, Pepke-Zaba, J, Toshner, M, Wort, S, Gräf, S, Morrell, NW, Wilkins, MR, Lawrie, A, Wang, D, Bleda, M, Hadinnapola, C, Haimel, M, Auckland, K, Tilly, T, Martin, JM, Yates, K, Treacy, CM, Day, M, Greenhalgh, A, Shipley, D, Peacock, AJ, Irvine, V, Kennedy, F, Moledina, S, MacDonald, L, Tamvaki, E, Barnes, A, Cookson, V, Chentouf, L, Ali, S, Othman, S, Ranganathan, L, Gibbs, JSR, DaCosta, R, Pinguel, J, Dormand, N, Parker, A, Stokes, D, Ghedia, D, Tan, Y, Ngcozana, T, Wanjiku, I, Polwarth, G, Mackenzie Ross, RV, Suntharalingam, J, Grover, M, Kirby, A, Grove, A, White, K, Seatter, A, Creaser-Myers, A, Walker, S, Roney, S, Elliot, CA, Charalampopoulos, A, Sabroe, I, Hameed, A, Armstrong, I, Hamilton, N, Rothman, AMK, Swift, AJ, Wild, JM, Soubrier, F, Eyries, M, Humbert, M, Montani, D, Girerd, B, Scelsi, L, Ghio, S, Gall, H, Ghofrani, A, Bogaard, HJ, Noordegraaf, AV, Houweling, AC, Veld, AHI, Schotte, G
Idiopathic pulmonary arterial hypertension (IPAH) is a rare but fatal disease diagnosed by right heart catheterisation and the exclusion of other forms of pulmonary arterial hypertension, producing a heterogeneous population with varied treatment res
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::54d642bd341cee9decc1a0bef54e4884
https://eprints.gla.ac.uk/260156/1/260156.pdf
https://eprints.gla.ac.uk/260156/1/260156.pdf
Autor:
Kariotis, S, Jammeh, E, Swietlik, EM, Pickworth, JA, Rhodes, CJ, Otero, P, Wharton, J, Iremonger, J, Dunning, MJ, Pandya, D, Mascarenhas, TS, Errington, N, Thompson, AAR, Romanoski, CE, Rischard, F, Garcia, JGN, Yuan, JX-J, An, T-HS, Desai, AA, Coghlan, G, Lordan, J, Corris, PA, Howard, LS, Condliffe, R, Kiely, DG, Church, C, Pepke-Zaba, J, Toshner, M, Wort, S, Graf, S, Morrell, NW, Wilkins, MR, Lawrie, A, Wang, D, Bleda, M, Hadinnapola, C, Haimel, M, Auckland, K, Tilly, T, Martin, JM, Yates, K, Treacy, CM, Day, M, Greenhalgh, A, Shipley, D, Peacock, AJ, Irvine, V, Kennedy, F, Moledina, S, MacDonald, L, Tamvaki, E, Barnes, A, Cookson, V, Chentouf, L, Ali, S, Othman, S, Ranganathan, L, Gibbs, JSR, DaCosta, R, Pinguel, J, Dormand, N, Parker, A, Stokes, D, Ghedia, D, Tan, Y, Ngcozana, T, Wanjiku, I, Polwarth, G, Mackenzie Ross, RV, Suntharalingam, J, Grover, M, Kirby, A, Grove, A, White, K, Seatter, A, Creaser-Myers, A, Walker, S, Roney, S, Elliot, CA, Charalampopoulos, A, Sabroe, I, Hameed, A, Armstrong, I, Hamilton, N, Rothman, AMK, Swift, AJ, Wild, JM, Soubrier, F, Eyries, M, Humbert, M, Montani, D, Girerd, B, Scelsi, L, Ghio, S, Gall, H, Ghofrani, A, Bogaard, HJ, Noordegraaf, AV, Houweling, AC, Veld, AHI, Schotte, G
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
UK National PAH Cohort Study Consortium 2021, ' Biological heterogeneity in idiopathic pulmonary arterial hypertension identified through unsupervised transcriptomic profiling of whole blood ', Nature Communications, vol. 12, no. 1, 7104 . https://doi.org/10.1038/s41467-021-27326-0
Nature Communications, 12(1):7104. Nature Publishing Group UK
Nature Communications
UK National PAH Cohort Study Consortium 2021, ' Biological heterogeneity in idiopathic pulmonary arterial hypertension identified through unsupervised transcriptomic profiling of whole blood ', Nature Communications, vol. 12, no. 1, 7104 . https://doi.org/10.1038/s41467-021-27326-0
Nature Communications, 12(1):7104. Nature Publishing Group UK
Nature Communications
Idiopathic pulmonary arterial hypertension (IPAH) is a rare but fatal disease diagnosed by right heart catheterisation and the exclusion of other forms of pulmonary arterial hypertension, producing a heterogeneous population with varied treatment res
Autor:
Rhodes, CJ, Otero-Núñez, P, Wharton, J, Swietlik, EM, Kariotis, S, Harbaum, L, Dunning, MJ, Elinoff, JM, Errington, N, Thompson, AAR, Iremonger, J, Coghlan, JG, Corris, PA, Howard, LS, Kiely, DG, Church, C, Pepke-Zaba, J, Toshner, M, Wort, SJ, Desai, AA, Humbert, M, Nichols, WC, Southgate, L, Trégouët, D-A, Trembath, RC, Prokopenko, I, Gräf, S, Morrell, NW, Wang, D, Lawrie, A, Wilkins, MR
Rationale: Idiopathic and heritable pulmonary arterial hypertension (PAH) are rare but comprise a genetically heterogeneous patient group. RNA sequencing linked to the underlying genetic architecture can be used to better understand the underlying pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::250ab1f9f65ebb706404b79e667f03af
https://openaccess.sgul.ac.uk/id/eprint/111937/6/rccm.202003-0510oc.pdf
https://openaccess.sgul.ac.uk/id/eprint/111937/6/rccm.202003-0510oc.pdf
Autor:
Ulrich, A, Wharton, J, Thayer, TE, Swietlik, EM, Assad, TR, Desai, AA, Gräf, S, Harbaum, L, Humbert, M, Morrell, NW, Nichols, WC, Soubrier, F, Southgate, L, Trégouët, D-A, Trembath, RC, Brittain, EL, Wilkins, MR, Prokopenko, I, Rhodes, CJ, NIHR BioResource – Rare Diseases Consortium, UK PAH Cohort Study Consortium, US PAH Biobank Consortium
Pulmonary arterial hypertension (PAH) is a rare disease that leads to premature death from right heart failure. It is strongly associated with elevated red cell distribution width (RDW), a correlate of several iron status biomarkers. High RDW values
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::5d8e24af37d202b069b3d2a7ce4e8632
Autor:
Rhodes, CJ, Batai, K, Bleda, M, Haimel, M, Southgate, L, Germain, M, Pauciulo, MW, Hadinnapola, C, Aman, J, Girerd, B, Arora, A, Knight, J, Hanscombe, KB, Karnes, JH, Kaakinen, M, Gall, H, Ulrich, A, Harbaum, L, Cebola, I, Ferrer, J, Lutz, K, Swietlik, EM, Ahmad, F, Amouyel, P, Archer, SL, Argula, R, Austin, ED, Badesch, D, Bakshi, S, Barnett, C, Benza, R, Bhatt, N, Bogaard, HJ, Burger, CD, Chakinala, M, Church, C, Coghlan, JG, Condliffe, R, Corris, PA, Danesino, C, Debette, S, Elliott, CG, Elwing, J, Eyries, M, Fortin, T, Franke, A, Frantz, RP, Frost, A, Garcia, JGN, Ghio, S, Ghofrani, H-A, Gibbs, JSR, Harley, J, He, H, Hill, NS, Hirsch, R, Houweling, AC, Howard, LS, Ivy, D, Kiely, DG, Klinger, J, Kovacs, G, Lahm, T, Laudes, M, Machado, RD, Ross, RV, Marsolo, K, Martin, LJ, Moledina, S, Montani, D, Nathan, SD, Newnham, M, Olschewski, A, Olschewski, H, Oudiz, RJ, Ouwehand, WH, Peacock, AJ, Pepke-Zaba, J, Rehman, Z, Robbins, I, Roden, DM, Rosenzweig, EB, Saydain, G, Scelsi, L, Schilz, R, Seeger, W, Shaffer, CM, Simms, RW, Simon, M, Sitbon, O, Suntharalingam, J, Tang, H, Tchourbanov, AY, Thenappan, T, Torres, F, Toshner, MR, Treacy, CM, Noordegraaf, A, Waisfisz, Q, Walsworth, AK, Walter, RE, Wharton, J, White, RJ, Wilt, J, Wort, SJ, Yung, D, Lawrie, A, Humbert, M, Soubrier, F, Trégouët, D-A, Prokopenko, I, Kittles, R, Gräf, S, Nichols, WC, Trembath, RC, Desai, AA, Morrell, NW, Wilkins, MR, Consortium, UK NIHR Bioresource Rare Diseases, Consortium, UK PAH Cohort Study, Consortium, US PAH Biobank, McCarthy, M
Publikováno v:
Lancet Respiratory medicine
Lancet Respiratory medicine, Elsevier, 2019, 7 (3), pp.227-238. ⟨10.1016/S2213-2600(18)30409-0⟩
Lancet respiratory medicine, 7(3), 227-238. Elsevier Limited
The Lancet. Respiratory Medicine
Rhodes, C J, Batai, K, Bleda, M, Haimel, M, Southgate, L, Germain, M, Pauciulo, M W, Hadinnapola, C, Aman, J, Girerd, B, Arora, A, Knight, J, Hanscombe, K B, Karnes, J H, Kaakinen, M, Gall, H, Ulrich, A, Harbaum, L, Cebola, I, Ferrer, J, Lutz, K, Swietlik, E M, Ahmad, F, Amouyel, P, Archer, S L, Argula, R, Austin, E D, Badesch, D, Bakshi, S, Barnett, C, Benza, R, Bhatt, N, Bogaard, H J, Burger, C D, Chakinala, M, Church, C, Coghlan, J G, Condliffe, R, Corris, P A, Danesino, C, Debette, S, Elliott, C G, Elwing, J, Eyries, M, Fortin, T, Franke, A, Frantz, R P, Frost, A, Garcia, J G N, Ghio, S, Ghofrani, H A, Gibbs, J S R, Harley, J, He, H, Hill, N S, Hirsch, R, Houweling, A C, Howard, L S, Ivy, D, Kiely, D G, Klinger, J, Kovacs, G, Lahm, T, Laudes, M, Machado, R D, MacKenzie Ross, R V, Marsolo, K, Martin, L J, Moledina, S, Montani, D, Nathan, S D, Newnham, M, Olschewski, A, Olschewski, H, Oudiz, R J, Ouwehand, W H, Peacock, A J, Pepke-Zaba, J, Rehman, Z, Robbins, I, Roden, D M, Rosenzweig, E B, Saydain, G, Scelsi, L, Schilz, R, Seeger, W, Shaffer, C M, Simms, R W, Simon, M, Sitbon, O, Suntharalingam, J, Tang, H, Tchourbanov, A Y, Thenappan, T, Torres, F, Toshner, M R, Treacy, C M, Vonk Noordegraaf, A, Waisfisz, Q, Walsworth, A K, Walter, R E, Wharton, J, White, R J, Wilt, J, Wort, S J, Yung, D, Lawrie, A, Humbert, M, Soubrier, F, Trégouët, D A, Prokopenko, I, Kittles, R, Gräf, S, Nichols, W C, Trembath, R C, Desai, A A, Morrell, N W, Wilkins, M R, UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium & US PAH Biobank Consortium 2019, ' Genetic determinants of risk in pulmonary arterial hypertension : international genome-wide association studies and meta-analysis ', Lancet respiratory medicine, vol. 7, no. 3, pp. 227-238 . https://doi.org/10.1016/S2213-2600(18)30409-0, https://doi.org/10.1016/S2213-2600(18)30409-0
Lancet Respiratory medicine, Elsevier, 2019, 7 (3), pp.227-238. ⟨10.1016/S2213-2600(18)30409-0⟩
Lancet respiratory medicine, 7(3), 227-238. Elsevier Limited
The Lancet. Respiratory Medicine
Rhodes, C J, Batai, K, Bleda, M, Haimel, M, Southgate, L, Germain, M, Pauciulo, M W, Hadinnapola, C, Aman, J, Girerd, B, Arora, A, Knight, J, Hanscombe, K B, Karnes, J H, Kaakinen, M, Gall, H, Ulrich, A, Harbaum, L, Cebola, I, Ferrer, J, Lutz, K, Swietlik, E M, Ahmad, F, Amouyel, P, Archer, S L, Argula, R, Austin, E D, Badesch, D, Bakshi, S, Barnett, C, Benza, R, Bhatt, N, Bogaard, H J, Burger, C D, Chakinala, M, Church, C, Coghlan, J G, Condliffe, R, Corris, P A, Danesino, C, Debette, S, Elliott, C G, Elwing, J, Eyries, M, Fortin, T, Franke, A, Frantz, R P, Frost, A, Garcia, J G N, Ghio, S, Ghofrani, H A, Gibbs, J S R, Harley, J, He, H, Hill, N S, Hirsch, R, Houweling, A C, Howard, L S, Ivy, D, Kiely, D G, Klinger, J, Kovacs, G, Lahm, T, Laudes, M, Machado, R D, MacKenzie Ross, R V, Marsolo, K, Martin, L J, Moledina, S, Montani, D, Nathan, S D, Newnham, M, Olschewski, A, Olschewski, H, Oudiz, R J, Ouwehand, W H, Peacock, A J, Pepke-Zaba, J, Rehman, Z, Robbins, I, Roden, D M, Rosenzweig, E B, Saydain, G, Scelsi, L, Schilz, R, Seeger, W, Shaffer, C M, Simms, R W, Simon, M, Sitbon, O, Suntharalingam, J, Tang, H, Tchourbanov, A Y, Thenappan, T, Torres, F, Toshner, M R, Treacy, C M, Vonk Noordegraaf, A, Waisfisz, Q, Walsworth, A K, Walter, R E, Wharton, J, White, R J, Wilt, J, Wort, S J, Yung, D, Lawrie, A, Humbert, M, Soubrier, F, Trégouët, D A, Prokopenko, I, Kittles, R, Gräf, S, Nichols, W C, Trembath, R C, Desai, A A, Morrell, N W, Wilkins, M R, UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium & US PAH Biobank Consortium 2019, ' Genetic determinants of risk in pulmonary arterial hypertension : international genome-wide association studies and meta-analysis ', Lancet respiratory medicine, vol. 7, no. 3, pp. 227-238 . https://doi.org/10.1016/S2213-2600(18)30409-0, https://doi.org/10.1016/S2213-2600(18)30409-0
Background Raregenetic variantscause pulmonary arterial hypertension, but the contribution of commongenetic variationto disease risk and natural history is poorly characterised. We tested for genome-wide association for pulmonary arterial hypertensio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ae9607d585d112e007c7f8cea64b0b66
https://hal.sorbonne-universite.fr/hal-02154109/file/1-s2.0-S2213260018304090-main.pdf
https://hal.sorbonne-universite.fr/hal-02154109/file/1-s2.0-S2213260018304090-main.pdf
Autor:
Rhodes, CJ, Batai, K, Bleda, M, Haimel, M, Southgate, L, Germain, M, Pauciulo, MW, Hadinnapola, C, Aman, J, Girerd, B, Arora, A, Robbins, I, Roden, DM, Rosenzweig, EB, Saydain, G, Scelsi, L, Schilz, R, Seeger, W, Shaffer, CM, Simms, RW, Simon, M, Walter, RE, Sitbon, O, Suntharalingam, J, Tang, H, Tchourbanov, AY, Thenappan, T, Torres, F, Toshner, MR, Treacy, CM, Noordegraaf, AV, Waisfisz, Q, Wharton, J, Walsworth, AK, White, RJ, Wilt, J, Wort, SJ, Yung, D, Lawrie, A, Humbert, M, Soubrier, F, Trégouët, D-A, Knight, J, Prokopenko, I, Kittles, R, Gräf, S, Nichols, WC, Trembath, RC, Desai, AA, Morrell, NW, Wilkins, MR, UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium, Hanscombe, KB, US PAH Biobank Consortium, Karnes, JH, Kaakinen, M, Gall, H, Ulrich, A, Harbaum, L, Cebola, I, Ferrer, J, Lutz, K, Swietlik, EM, Ahmad, F, Amouyel, P, Archer, SL, Argula, R, Austin, ED, Badesch, D, Bakshi, S, Barnett, C, Benza, R, Bhatt, N, Bogaard, HJ, Burger, CD, Chakinala, M, Church, C, Coghlan, JG, Condliffe, R, Corris, PA, Danesino, C, Debette, S, Elliott, CG, Elwing, J, Eyries, M, Fortin, T, Franke, A, Frantz, RP, Frost, A, Garcia, JGN, Ghio, S, Ghofrani, H-A, Gibbs, JSR, Harley, J, He, H, Hill, NS, Hirsch, R, Houweling, AC, Howard, LS, Ivy, D, Kiely, DG, Klinger, J, Kovacs, G, Lahm, T, Laudes, M, Machado, RD, Ross, RVM, Marsolo, K, Martin, LJ, Moledina, S, Montani, D, Nathan, SD, Newnham, M, Olschewski, A, Olschewski, H, Oudiz, RJ, Ouwehand, WH, Peacock, AJ, Pepke-Zaba, J, Rehman, Z
Background Rare genetic variants cause pulmonary arterial hypertension, but the contribution of common genetic variation to disease risk and natural history is poorly characterised. We tested for genome-wide association for pulmonary arterial hyperte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1032::a297be26162c381f7f07b964781cbe3f
http://hdl.handle.net/10044/1/65072
http://hdl.handle.net/10044/1/65072
Autor:
Swietlik EM; Department of Medicine, The Victor Phillip Dahdaleh Heart and Lung Research Institute University of Cambridge Cambridge UK.; Department of Pulmonology, Collegium Medicum University of Warmia and Mazury in Olsztyn Olsztyn Poland., Fay M; MF Research Consultancy Newcastle upon Tyne UK., Morrell NW; Department of Medicine, The Victor Phillip Dahdaleh Heart and Lung Research Institute University of Cambridge Cambridge UK.
Publikováno v:
Pulmonary circulation [Pulm Circ] 2024 Mar 12; Vol. 14 (1), pp. e12353. Date of Electronic Publication: 2024 Mar 12 (Print Publication: 2024).
Autor:
Swietlik EM; Department of Medicine, The Victor Phillip Dahdaleh Heart and Lung Research Institute University of Cambridge Cambridge UK.; Department of Pulmonology, Collegium Medicum University of Warmia and Mazury in Olsztyn Olsztyn Poland., Fay M; MF Research Consultancy Newcastle UK., Morrell NW; Department of Medicine, The Victor Phillip Dahdaleh Heart and Lung Research Institute University of Cambridge Cambridge UK.
Publikováno v:
Pulmonary circulation [Pulm Circ] 2024 Feb 15; Vol. 14 (1), pp. e12346. Date of Electronic Publication: 2024 Feb 15 (Print Publication: 2024).
Autor:
Ulrich A; Department of Clinical and Experimental Medicine, University of Surrey, Surrey, UK., Wu Y; National Heart and Lung Institute, Imperial College London, London, UK., Draisma H; Department of Clinical and Experimental Medicine, University of Surrey, Surrey, UK.; Section of Genetics & Genomics, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, UK., Wharton J; National Heart and Lung Institute, Imperial College London, London, UK., Swietlik EM; VPD Heart & Lung Research Institute, University of Cambridge, Cambridge, UK., Cebola I; Section of Genetics & Genomics, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, UK., Vasilaki E; National Heart and Lung Institute, Imperial College London, London, UK., Balkhiyarova Z; Department of Clinical and Experimental Medicine, University of Surrey, Surrey, UK.; Section of Genetics & Genomics, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, UK.; People-Centred Artificial Intelligence Institute, University of Surrey, Guildford, UK., Jarvelin MR; MRC Centre for Environment and Health, Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK.; Center for Life Course Health Research, Faculty of Medicine, University of Oulu, Oulu, Finland.; Unit of Primary Care, Oulu University Hospital, Oulu, Finland.; Department of Life Sciences, College of Health and Life Sciences, Brunel University London, London, UK., Auvinen J; Center for Life Course Health Research, Faculty of Medicine, University of Oulu, Oulu, Finland., Herzig KH; Institute of Biomedicine, Medical Research Center Oulu, Oulu University and Oulu University Hospital, Oulu, Finland.; Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, Poznan, Poland., Coghlan JG; University College London, London, UK., Lordan J; University of Newcastle, Newcastle, UK., Church C; Golden Jubilee National Hospital and University of Glasgow, Glasgow, UK., Howard LS; National Heart and Lung Institute, Imperial College London, London, UK., Pepke-Zaba J; Royal Papworth Hospital, Cambridge, UK., Toshner M; VPD Heart & Lung Research Institute, University of Cambridge, Cambridge, UK., Wort SJ; National Heart and Lung Institute, Imperial College London, London, UK.; National PH Service, Royal Brompton Hospital, London, UK., Kiely DG; Department of Infection, Immunity & Cardiovascular Disease, University of Sheffield, Sheffield, UK.; Sheffield Pulmonary Vascular Disease Unit, Royal Hallamshire Hospital, Sheffield, UK.; NIHR Biomedical Research Centre Sheffield, Sheffield, UK., Condliffe R; Department of Infection, Immunity & Cardiovascular Disease, University of Sheffield, Sheffield, UK.; Sheffield Pulmonary Vascular Disease Unit, Royal Hallamshire Hospital, Sheffield, UK., Lawrie A; National Heart and Lung Institute, Imperial College London, London, UK.; Department of Infection, Immunity & Cardiovascular Disease, University of Sheffield, Sheffield, UK., Gräf S; VPD Heart & Lung Research Institute, University of Cambridge, Cambridge, UK.; NIHR BioResource for Translational Research, Cambridge Biomedical Campus, Cambridge, UK., Morrell NW; VPD Heart & Lung Research Institute, University of Cambridge, Cambridge, UK., Wilkins MR; National Heart and Lung Institute, Imperial College London, London, UK., Prokopenko I; Department of Clinical and Experimental Medicine, University of Surrey, Surrey, UK., Rhodes CJ; National Heart and Lung Institute, Imperial College London, London, UK. crhodes@ic.ac.uk.
Publikováno v:
Nature communications [Nat Commun] 2024 Jan 06; Vol. 15 (1), pp. 330. Date of Electronic Publication: 2024 Jan 06.
Autor:
Carmody LC; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Gargano MA; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Toro S; University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Vasilevsky NA; Critical Path Institute, Tucson, AZ, USA., Adam MP; University of Washington School of Medicine, Seattle, WA, USA., Blau H; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Chan LE; Oregon State University, Corvallis, OR, USA., Gomez-Andres D; Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Robinson Way, Cambridge CB2 0PY, UK., Kraus ML; University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Ladewig MS; Department of Ophthalmology, Klinikum Saarbrücken, Saarbrücken, Germany., Lewis-Smith D; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Ottowa, Canada; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada; Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany; Centro Nacional de Análisis Genómico, Barcelona, Spain., Matentzoglu NA; Semanticly, Athens, Attiki, Greece., Munoz-Torres MC; University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Schuetz C; Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany., Seitz B; Department of Ophthalmology, Saarland University Medical Center UKS, Homburg, Saar, Germany., Similuk MN; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Sparks TN; Department of Obstetrics, Gynecology, & Reproductive Sciences, University of California, San Francisco, San Francisco, CA 94143, USA., Strauss T; Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany., Swietlik EM; Department of Medicine, University of Cambridge, Heart and Lung Research Institute, Cambridge CB2 0BB, UK., Thompson R; Children's Hospital of Eastern Ontario Research Institute, Ottowa, Canada., Zhang XA; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Mungall CJ; Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Haendel MA; University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA. Electronic address: peter.robinson@jax.org.
Publikováno v:
Med (New York, N.Y.) [Med] 2023 Dec 08; Vol. 4 (12), pp. 913-927.e3. Date of Electronic Publication: 2023 Nov 13.