المؤلفون: Sunayna Best, Chris F. Inglehearn, Christopher M. Watson, Carmel Toomes, Gabrielle Wheway, Colin A. Johnson

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 190:5-8

مصطلحات موضوعية: Cohort Studies, Genetics, Humans, Ciliopathies, United Kingdom, Genetics (clinical), Congenital Abnormalities

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a142acde3f80101ab26c0d9868b10ca0Test
https://doi.org/10.1002/ajmg.c.31965Test

المؤلفون: Karen I Lange, Sunayna Best, Sofia Tsiropoulou, Ian Berry, Colin A Johnson, Oliver E Blacque

المصدر: Human Molecular Genetics. 31:1574-1587

مصطلحات موضوعية: Gene Editing, Mutation, Missense, Genetics, Animals, Humans, Cilia, General Medicine, Caenorhabditis elegans, Caenorhabditis elegans Proteins, Molecular Biology, Ciliopathies, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b35157031026d9a8932f4cd948b272b3Test
https://doi.org/10.1093/hmg/ddab344Test

المؤلفون: Jamie M Ellingford, Jenny Carmichael, Carmel Toomes, Christopher M. Watson, Roel P J Bevers, Colin A. Johnson, James A. Poulter, Matthew Roche, Helen K. Brittain, Gabrielle Wheway, Alex Stuckey, Sunayna Best, Chris F. Inglehearn, Jenny Lord, Katarzyna Szymanska

المصدر: Best, S, Lord, J, Roche, M, Watson, C M, Poulter, J A, Bevers, R P J, Stuckey, A, Szymanska, K, Ellingford, J M, Carmichael, J, Brittain, H, Toomes, C, Inglehearn, C, Johnson, C A & Wheway, G 2021, ' Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2021-108065Test

مصطلحات موضوعية: Proband, diagnosis, Genomics, Disease, medical, Ciliopathies, State Medicine, Joubert syndrome, Human Phenotype Ontology, genomics, Genetics, Humans, Medicine, genetics, Abnormalities, Multiple, Eye Abnormalities, Genetics (clinical), business.industry, Cilium, congenital, Kidney Diseases, Cystic, medicine.disease, Ciliopathy, Phenotype, and neonatal diseases and abnormalities, business, hereditary

وصف الملف: text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53ae82c691b2420bcaacf19be4171770Test
https://doi.org/10.1136/jmedgenet-2021-108065Test

المؤلفون: Sunayna, Best, Jing, Yu, Jenny, Lord, Matthew, Roche, Christopher Mark, Watson, Roel P J, Bevers, Alex, Stuckey, Savita, Madhusudhan, Rosalyn, Jewell, Sanjay M, Sisodiya, Siying, Lin, Stephen, Turner, Hannah, Robinson, Joseph S, Leslie, Emma, Baple, Carmel, Toomes, Chris, Inglehearn, Gabrielle, Wheway, S M, Wood

المصدر: Journal of medical genetics. 59(12)

مصطلحات موضوعية: Genotype, Genome, Human, Cell Cycle Proteins, Ciliopathies, State Medicine, Cytoskeletal Proteins, Phenotype, Antigens, Neoplasm, Genetics, Humans, Carrier Proteins, Bardet-Biedl Syndrome, Microtubule-Associated Proteins, Genetics (clinical)

وصف الملف: text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d0d91afb5b472257a94d3d856669c7eTest
https://pubmed.ncbi.nlm.nih.gov/35764379Test

المؤلفون: Sunayna Best, Jenny Lord, Matthew Roche, Christopher Watson, James Poulter, Katarzyna Szymanska, Jamie Ellingford, Jenny Carmichael, Helen Brittain, Carmel Toomes, Chris Inglehearn, Colin Johnson, Gabrielle Wheway

المصدر: Acta Ophthalmologica. 100

مصطلحات موضوعية: Ophthalmology, General Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::848d75fd43fef771d7ac02a6042b409aTest
https://doi.org/10.1111/j.1755-3768.2022.130Test

المؤلفون: Matthew S. Edwards, Deborah J. Morris-Rosendahl, Robert Wilson, Guillaume Thouvenin, Siobhán B. Carr, Claire Hogg, Amelia Shoemark, Mary P. Carroll, Bruna Rubbo, Eric G. Haarman, Bernard Maitre, Estelle Escudier, Gregory Jouvion, Mahmood R. Fassad, Marie Legendre, Michel R. Loebinger, Gunnar E. Carlsson, Camille Parsons, Irma C.M. Bon, Pierre-Régis Burgel, Sunayna Best, Joost Brandsma, Isabelle Honoré, David Hunt, Jean-François Papon, Woolf T. Walker, Hannah M. Mitchison, Jane S. Lucas, Simon N. Thomas, Mitali P. Patel

المساهمون: Pediatric surgery, Amsterdam Reproduction & Development (AR&D), Royal Brompton and Harefield NHS Foundation Trust, University of Dundee, University of Southampton, Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), UF de Génétique moléculaire [CHU Trousseau], CHU Trousseau [APHP], Great Ormond Street Institute of Child Health (UCL), University College of London [London] (UCL), Université Senghor [Alexandria], Amsterdam UMC - Amsterdam University Medical Center, University of Leeds, Service de pneumologie [CHU Cochin], Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Department of Mathematics [Stanford], Stanford University, National Heart and Lung Institute [London] (NHLI), Imperial College London-Royal Brompton and Harefield NHS Foundation Trust, Service de Pneumologie [CHI Créteil], CHI Créteil, Molecular virology and immunology – Physiopathology and therapeutic of chronic viral hepatitis (Team 18) (Inserm U955), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service d’ORL et de chirurgie cervico-faciale [CHU Le Kremlin-Bicêtre], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Faculté de Médecine Paris-Saclay, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre)-Université Paris-Saclay, Biomécanique cellulaire et respiratoire (BCR), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Centre National de la Recherche Scientifique (CNRS), IMRB - 'Biomechanics and Respiratory Apparatus' [Créteil] (U955 Inserm - UPEC), Service de Pneumologie pédiatrique [CHU Trousseau], Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), NIHR Biomedical Research Centre [London], Guy's and St Thomas' NHS Foundation Trust-King‘s College London, University Hospital Southampton NHS Foundation Trust, Couvet, Sandrine

المصدر: The European respiratory journal, 58(2):2002359. European Respiratory Society
European Respiratory Journal
European Respiratory Journal, 2021, 58 (2), pp.2002359. ⟨10.1183/13993003.02359-2020⟩
Shoemark, A, Rubbo, B, Legendre, M, Fassad, M R, Haarman, E G, Best, S, Bon, I C M, Brandsma, J, Burgel, P-R, Carlsson, G, Carr, S B, Carroll, M, Edwards, M, Escudier, E, Honoré, I, Hunt, D, Jouvion, G, Loebinger, M R, Maitre, B, Morris-Rosendahl, D, Papon, J-F, Parsons, C M, Patel, M P, Thomas, N S, Thouvenin, G, Walker, W T, Wilson, R, Hogg, C, Mitchison, H M & Lucas, J S 2021, ' Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia ', The European respiratory journal, vol. 58, no. 2, 2002359 . https://doi.org/10.1183/13993003.02359-2020Test
European Respiratory Journal, European Respiratory Society, 2021, 58 (2), pp.2002359. ⟨10.1183/13993003.02359-2020⟩

مصطلحات موضوعية: Data Analysis, Pulmonary and Respiratory Medicine, Genotype, Gene mutation, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Cilia, 030212 general & internal medicine, Gene, Primary ciliary dyskinesia, Genetic testing, Genetics, medicine.diagnostic_test, Kartagener Syndrome, business.industry, Cilium, medicine.disease, Phenotype, 030228 respiratory system, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, Topological data analysis, business, Ciliary Motility Disorders

وصف الملف: text; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fae0266988495c6128a73a76aa8b5ed4Test
https://eprints.soton.ac.uk/446244Test/

المؤلفون: Ian Berry, Colin A. Johnson, Karen I. Lange, Sofia Tsiropoulou, Oliver E. Blacque, Sunayna Best

مصطلحات موضوعية: Genetics, Ciliopathy, Genome editing, biology, medicine, Missense mutation, CRISPR, Allele, biology.organism_classification, medicine.disease, Gene, Orthologous Gene, Caenorhabditis elegans

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bab5acee791e1023fc26ebeacc5c9754Test
https://doi.org/10.1101/2021.06.17.448799Test

المؤلفون: Basudha Basu, Sushma Nagaraja Grellscheid, Subaashini Natarajan, Colin A. Johnson, Rachel Trowbridge, Sunayna Best, Richard Foster, Claire E. L. Smith, Alice V.R. Lake, Jacquelyn Bond, Thomas Stevenson

مصطلحات موضوعية: Cystic kidney disease, Ciliopathy, business.industry, Phenotypic screening, Cilium, Fasudil, Cancer research, medicine, Polycystic kidney disease, medicine.disease, business, Actin cytoskeleton, Ciliopathies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::53edd59740aaf855afe893762b638608Test
https://doi.org/10.1101/2020.11.26.393801Test

المؤلفون: Manjith Narayanan, Christopher O'Callaghan, Woolf T. Walker, Siobhán B. Carr, Robert A. Hirst, Priti Kenia, Philip Chetcuti, Jane S. Lucas, Michael Williamson, Sunayna Best, Patricia Goggin, Amelia Shoemark, Bruna Rubbo, Eduardo Moya, Claire Hogg

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Cystic Fibrosis, Age at diagnosis, Cystic fibrosis, State Medicine, 03 medical and health sciences, 0302 clinical medicine, otorhinolaryngologic diseases, Humans, Medicine, 030212 general & internal medicine, Child, Lung, Lung function, Primary ciliary dyskinesia, Service (business), business.industry, Nutritional status, National health service, medicine.disease, Combined Modality Therapy, Respiratory Function Tests, respiratory tract diseases, Situs inversus, Treatment Outcome, England, 030228 respiratory system, Pediatrics, Perinatology and Child Health, Female, business, Ciliary Motility Disorders

وصف الملف: text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::390e01ec859077b54f9c110c9da4e437Test
https://eprints.soton.ac.uk/437842Test/

المؤلفون: Emma Hobson, James A. Poulter, Eamonn Sheridan, Sunayna Best, Colin A. Johnson, Marilena Elpidorou, Verity L. Hartill

مصطلحات موضوعية: 0301 basic medicine, OCA2, Genetics, medicine.medical_specialty, biology, 030105 genetics & heredity, medicine.disease, Frameshift mutation, Ubiquitin ligase, 03 medical and health sciences, 030104 developmental biology, Neurodevelopmental disorder, Molecular genetics, Angelman syndrome, medicine, biology.protein, Missense mutation, Gene, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53ebe4cbb5945408b9d27d60a25cac32Test
https://eprints.whiterose.ac.uk/160583/8/jmedgenet-2020-106873.full.pdfTest