Zobrazeno 1 - 10
of 79
pro vyhledávání: '"Baple EL"'
Autor:
Zollo, M, Ahmed, M, Ferrucci, V, Salpietro, V, Asadzadeh, F, Carotenuto, M, Maroofian, R, Al-Amri, A, Singh, R, Scognamiglio, I, Mojarrad, M, Musella, L, Duilio, A, Di Somma, A, Karaca, E, Rajab, A, Al-Khayat, A, Mohan Mohapatra, T, Eslahi, A, Ashrafzadeh, F, Rawlins, LE, Prasad, R, Gupta, R, Kumari, P, Srivastava, M, Cozzolino, F, Kumar Rai, S, Monti, M, Harlalka, GV, Simpson, MA, Rich, P, Al-Salmi, F, Patton, MA, Chioza, BA, Efthymiou, S, Granata, F, Di Rosa, G, Wiethoff, S, Borgione, E, Scuderi, C, Mankad, K, Hanna, MG, Pucci, P, Houlden, H, Lupski, JR, Crosby, AH, Baple, EL
Publikováno v:
Zollo, M, Ahmed, M, Ferrucci, V, Salpietro, V, Asadzadeh, F, Carotenuto, M, Maroofian, R, Al-Amri, A, Singh, R, Scognamiglio, I, Mojarrad, M, Musella, L, Duilio, A, Di Somma, A, Karaca, E, Rajab, A, Al-Khayat, A, Mohapatra, T M, Eslahi, A, Ashrafzadeh, F, Rawlins, L E, Prasad, R, Gupta, R, Kumari, P, Srivastava, M, Cozzolino, F, Rai, S K, Monti, M, Harlalka, G V, Simpson, M A, Rich, P, Al-Salmi, F, Patton, M A, Chioza, B A, Efthymiou, S, Granata, F, Di Rosa, G, Wiethoff, S, Borgione, E, Scuderi, C, Mankad, K, Hanna, M G, Pucci, P, Houlden, H, Lupski, J R, Crosby, A H & Baple, E L 2017, ' PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment ', Brain, vol. 140, no. 4, pp. 940-952 . https://doi.org/10.1093/brain/awx014
Brain
Brain
Zollo et al. report that mutations in PRUNE1, a phosphoesterase superfamily molecule, underlie primary microcephaly and profound global developmental delay in four unrelated families from Oman, India, Iran and Italy. The study highlights a potential
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e2db02146623e2293cb66ae2ab226462
https://kclpure.kcl.ac.uk/en/publications/d23a6486-88f7-43d9-b2d1-97053dd5be1a
https://kclpure.kcl.ac.uk/en/publications/d23a6486-88f7-43d9-b2d1-97053dd5be1a
Autor:
Ahmed, MY, Al-Khayat, A, Al-Murshedi, F, Al-Futaisi, A, Chioza, BA, Pedro Fernandez-Murray, J, Self, JE, Salter, CG, Harlalka, GV, Rawlins, LE, Al-Zuhaibi, S, Al-Azri, F, Al-Rashdi, F, Cazenave-Gassiot, A, Wenk, MR, Al-Salmi, F, Patton, MA, Silver, DL, Baple, EL, McMaster, CR, Crosby, AH
Publikováno v:
Brain
EPT1 encodes an enzyme involved in the Kennedy pathway of phospholipid biosynthesis, important for cell membrane integrity. Ahmed et al. identify an EPT1 mutation that impairs enzyme activity and causes complex motor neuron degenerative disease. This
Autor:
Ellard S; Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Exeter, UK., Morgan S; All Wales Genetics Laboratory, University Hospital of Wales, Cardiff, UK., Wynn SL; Rare Chromosome Disorder Support Group, Unique, Surrey, UK., Walker S; Genomics England Limited, London, UK., Parrish A; Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; South West Genomic Medicine Service, England, UK., Mein R; NHS England, London, UK., Juett A; South West Genomic Medicine Service, England, UK., Ahn JW; Cambridge Genomics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Berry I; South West Genomic Medicine Service, England, UK.; Bristol Genetics Laboratory, North Bristol NHS Trust, Bristol, UK., Cassidy EJ; Wessex Genomics Laboratory Service, University Hospital Southampton NHS Foundation Trust, Salisbury, UK., Durkie M; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Fish L; Genetic Alliance UK, London, UK., Hall R; South East Genomic Laboratory Hub, London, UK., Howard E; Manchester University NHS Foundation Trust, Manchester, UK., Rankin J; South West Genomic Medicine Service, England, UK.; Peninsula Clinical Genetics Service, Exeter, UK., Wright CF; Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Exeter, UK., Deans ZC; GenQA, Department of Laboratory Medicine, Royal Infirmary of Edinburgh, Edinburgh, UK., Scott RH; Genomics England Limited, London, UK.; Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK., Hill SL; NHS England, London, UK., Baple EL; Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Exeter, UK ebaple@nhs.net robert.taylor@newcastle.ac.uk.; South West Genomic Medicine Service, England, UK.; Peninsula Clinical Genetics Service, Exeter, UK., Taylor RW; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK ebaple@nhs.net robert.taylor@newcastle.ac.uk.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, North East and Yorkshire Genomic Laboratory Hub, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Publikováno v:
Journal of medical genetics [J Med Genet] 2024 Oct 07. Date of Electronic Publication: 2024 Oct 07.
Autor:
Saettini F; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy. f.saettini@gmail.com., Guerra F; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Pediatria, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy.; Molecular Systems Biology, School of Biosciences, Faculty of Health and Medical Sciences, University of Surrey, Guildford, Surrey, United Kingdom., Mauri M; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Salter CG; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK.; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK., Adam MP; Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Adams D; NIH Undiagnosed Diseases Program, NIH, Bethesda, MD, USA., Baple EL; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK.; Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital, Exeter, UK., Barredo E; Neuropediatric Department, Hospital Universitario Gregorio Marañón, Madrid, Spain., Bhatia S; Department of Paediatric Oncology, Haematology and Clinical Immunology, Medical Faculty, Heinrich-Heine University Dusseldorf, Düsseldorf, Germany., Borkhardt A; Department of Paediatric Oncology, Haematology and Clinical Immunology, Medical Faculty, Heinrich-Heine University Dusseldorf, Düsseldorf, Germany., Brusco A; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy., Bugarin C; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy., Chinello C; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Crosby AH; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK., D'Souza P; NIH Undiagnosed Diseases Program, NIH, Bethesda, MD, USA., Denti V; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Fazio G; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy., Giuliani S; Pediatria, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Kuehn HS; Immunology Service, DLM, NIH Clinical Center, Bethesda, MD, USA., Amel H; Pediatric Allergy and Immunology Department, Sidra Medicine, Doha, Qatar., Elmi A; Research Branch, Sidra Medicine, Doha, Qatar., Lo B; Research Branch, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Malighetti F; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Mandrile G; Department of Medical Sciences, University of Turin, Turin, Italy., Martín-Nalda A; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Mefford HC; Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Moratto D; Flow Cytometry Laboratory, Diagnostic Department, ASST Spedali Civili di Brescia, Brescia, Italy., Emam Mousavi F; Molecular Systems Biology, School of Biosciences, Faculty of Health and Medical Sciences, University of Surrey, Guildford, Surrey, United Kingdom.; Centre for Mathematical and Computational Biology, CMCB, University of Surrey, Guildford, Surrey, United Kingdom., Nelson Z; Vascular Anomalies Program, Seattle Children's Hospital, Seattle, WA, USA., Gutiérrez-Solana LG; Hospital Infantil Niño Jesús, Madrid, Madrid, Spain., Macnamara E; NIH Undiagnosed Diseases Program, NIH, Bethesda, MD, USA., Michaud V; Molecular Genetics Laboratory, Bordeaux University Hospital, Bordeaux, Aquitaine, France. INSERM U1211, Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Aquitaine, Talence, France., O'Leary M; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pagani L; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Pavinato L; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Santamaria PV; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain., Planas-Serra L; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Centre for Biomedical Research in Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Quadri M; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy., Raspall-Chaure M; Department of Paediatric Neurology, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Rebellato S; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Rosenzweig SD; Immunology Service, DLM, NIH Clinical Center, Bethesda, MD, USA., Roubertie A; Département de Neuropédiatrie, CIC, CHU de Montpellier, INM, Univ Montpellier, INSERM U 1298, Montpellier, France., Holzinger D; Department of Pediatric Haematology-Oncology, Pediatrics III, University of Duisburg-Essen, Essen, Germany.; Department of Applied Health Sciences, University of Applied Sciences Bochum, Bochum, Germany., Deal C; Division of Pediatric Allergy and Immunology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, USA., Vockley CW; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, USA., Savino AM; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., L Stoddard J; Immunology Service, DLM, NIH Clinical Center, Bethesda, MD, USA., Uhlig HH; Translational Gastroenterology Unit, NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, University of Oxford, Oxfordshire, UK.; Department of Paediatrics, University of Oxford, Oxfordshire, UK.; Oxford NIHR Biomedical Research Centre, Oxford, UK., Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Centre for Biomedical Research in Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Catalonia, Spain., Magni F; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Paglia G; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Cazzaniga G; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Piazza R; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Barberis M; Molecular Systems Biology, School of Biosciences, Faculty of Health and Medical Sciences, University of Surrey, Guildford, Surrey, United Kingdom.; Centre for Mathematical and Computational Biology, CMCB, University of Surrey, Guildford, Surrey, United Kingdom., Biondi A; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Pediatria, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy.
Publikováno v:
Journal of clinical immunology [J Clin Immunol] 2024 Sep 23; Vol. 45 (1), pp. 15. Date of Electronic Publication: 2024 Sep 23.
Autor:
Rawlins LE; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust (Heavitree), Gladstone Road, Exeter, UK. Electronic address: L.Rawlins@exeter.ac.uk., Maroofian R; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK., Cannon SJ; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK., Daana M; Child Development Center, Clalit health care services, Jerusalem., Zamani M; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK; Department of Biology, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran., Ghani S; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan., Leslie JS; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK., Ubeyratna N; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK., Khan N; Interdisciplinary Nanoscience Center, Gustav Wieds Vej 14, Aarhus University, Aarhus 8000, Denmark., Khan H; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan., Scardamaglia A; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK., Cloarec R; Centre de Référence Déficiences Intellectuelles et Polyhandicaps de causes rares, APHM, Hôpital de la Timone-Enfants, Marseille., Khan SA; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan., Umair M; Department of Life Sciences, School of Science, University of Management and Technology, Lahore, Pakistan; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Galehdari H; Department of Biology, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Al-Maawali A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; Genetic and Developmental Medicine Clinic, Department of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman., Al-Kindi A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; Genetic and Developmental Medicine Clinic, Department of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman., Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Ahmad F; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman., Al-Futaisi A; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman., Rodriguez Cruz PM; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK; Centro Nacional de Análisis Genómico, Barcelona, Spain; Department of Neurology, Centre Hospitalier National Universitaire de Fann, Dakar, Senegal., Salazar-Villacorta A; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK., Ndiaye M; Department of Neurology, Centre Hospitalier National Universitaire de Fann, Dakar, Senegal., Diop AG; Department of Neurology, Centre Hospitalier National Universitaire de Fann, Dakar, Senegal., Sedaghat A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Saberi A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Hamid M; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran., Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Vona B; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany., Owrang D; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany., Alhashem AM; Department of Radiology, Prince Sultan Medical Military City, Riyadh, Saudi Arabia., Obeid M; The American University of Beirut, Beirut, Lebanon., Khan A; Faculty of Biological Sciences, Department of Zoology, University of Lakki Marwat, Lakki, Khyber Pakhtunkhwa, Pakistan; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Beydoun A; The American University of Beirut, Beirut, Lebanon., Najjar M; The American University of Beirut, Beirut, Lebanon., Tajsharghi H; School of Health Sciences, Division Biomedicine, University of Skovde, Skovde, Sweden., Zifarelli G; Centogene GmbH, Am Strande 7, 18055 Rostock, Germany., Bauer P; Centogene GmbH, Am Strande 7, 18055 Rostock, Germany., Hakami WS; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia., Hashem AMA; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia., Boustany RN; The American University of Beirut, Beirut, Lebanon., Burglen L; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris, France; Centre de Référence des Malformations et Maladies congénitales du cervelet et Département de génétique, Hôpital Trousseau, APHP, Sorbonne Université, 26 avenue du Dr A Netter 75012 Paris, France., Alavi S; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK; Palindrome, Isfahan, Iran., Gunning AC; Exeter Genomics Laboratory (NHS South West Genomic Laboratory Hub), Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Owens M; Exeter Genomics Laboratory (NHS South West Genomic Laboratory Hub), Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Gleeson JG; Department of Neurosciences, University of California San Diego, La Jolla, CA, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Milh M; Centre de Référence Déficiences Intellectuelles et Polyhandicaps de causes rares, APHM, Hôpital de la Timone-Enfants, Marseille; Aix-Marseille Université, APHM, service de neurologie pédiatrique, Hôpital de la Timone-Enfants, Marseille., Salah S; Department of Genetics, Hebrew University Medical Center, Hadassah, Jerusalem., Khan J; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan., Haucke V; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Robert-Roessle-Str. 10, Berlin, Germany; Department of Biology, Chemistry, Pharmacy, Freie Universita¨t Berlin, 14195 Berlin, Germany., Wright CF; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK., McGavin L; University Hospitals Plymouth NHS Trust, Plymouth, UK; University of Plymouth, Plymouth, UK., Elpeleg O; Department of Genetics, Hebrew University Medical Center, Hadassah, Jerusalem., Shabbir MI; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan., Houlden H; Department of Neuromuscular Diseases, Queen Square, Institute of Neurology, University College London, London, UK., Ebner M; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Robert-Roessle-Str. 10, Berlin, Germany., Baple EL; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust (Heavitree), Gladstone Road, Exeter, UK. Electronic address: E.Baple@exeter.ac.uk., Crosby AH; Department of Clinical and Biomedical Sciences (Medical School), Faculty of Health and Life Sciences, University of Exeter, Research, Innovation, Learning and Development Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, UK. Electronic address: A.H.Crosby@exeter.ac.uk.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Sep 20, pp. 101278. Date of Electronic Publication: 2024 Sep 20.
Autor:
Azeem A; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, 26000, Khyber Pakhtunkhwa, Pakistan., Ahmed AN; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, 26000, Khyber Pakhtunkhwa, Pakistan., Khan N; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, 26000, Khyber Pakhtunkhwa, Pakistan., Voutsina N; 2Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK., Ullah I; Department of Neurology, Khyber Teaching Hospital, Peshawar, 25000, Khyber Pakhtunkhwa, Pakistan., Ubeyratna N; 2Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK., Yasin M; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, 26000, Khyber Pakhtunkhwa, Pakistan., Baple EL; 2Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK., Crosby AH; 2Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK., Rawlins LE; 2Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK. l.rawlins@exeter.ac.uk.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK. l.rawlins@exeter.ac.uk., Saleha S; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, 26000, Khyber Pakhtunkhwa, Pakistan. shamimsaleha@yahoo.com.
Publikováno v:
BMC neurology [BMC Neurol] 2024 Sep 20; Vol. 24 (1), pp. 354. Date of Electronic Publication: 2024 Sep 20.
Autor:
Khan J; Department of Biological Sciences, Faculty of Basic and Applied Sciences, International Islamic University, H-10, Islamabad, 44000, Pakistan.; Faculty of Basic and Applied Sciences, SA-Centre for Interdisciplinary Research in Basic Sciences, International Islamic University, H-10, Islamabad, 44000, Pakistan., Asif S; Department of Biosciences, COMSATS University Islamabad, Islamabad Campus, Islamabad, 45550, Pakistan., Ghani S; Department of Biological Sciences, Faculty of Basic and Applied Sciences, International Islamic University, H-10, Islamabad, 44000, Pakistan., Khan H; Department of Biological Sciences, Faculty of Basic and Applied Sciences, International Islamic University, H-10, Islamabad, 44000, Pakistan., Arshad MW; Department of Psychiatry, Yale University School of Medicine, VA CT Healthcare Center S116A2, West Haven, 06516, USA., Khan SA; Department of Biological Sciences, Faculty of Basic and Applied Sciences, International Islamic University, H-10, Islamabad, 44000, Pakistan., Lin S; College of Medicine and Health, RILD Wellcome Wolfson Centre, University of Exeter, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK., Baple EL; College of Medicine and Health, RILD Wellcome Wolfson Centre, University of Exeter, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK., Salter C; College of Medicine and Health, RILD Wellcome Wolfson Centre, University of Exeter, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK., Crosby AH; College of Medicine and Health, RILD Wellcome Wolfson Centre, University of Exeter, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK., Rawlins L; College of Medicine and Health, RILD Wellcome Wolfson Centre, University of Exeter, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK., Shabbir MI; Department of Biological Sciences, Faculty of Basic and Applied Sciences, International Islamic University, H-10, Islamabad, 44000, Pakistan. imran.shabbir@iiu.edu.pk.
Publikováno v:
BMC ophthalmology [BMC Ophthalmol] 2024 Aug 14; Vol. 24 (1), pp. 345. Date of Electronic Publication: 2024 Aug 14.
Autor:
McVeigh TP; Cancer Genetics Unit, Royal Marsden Hospital NHS Foundation Trust, London, UK terri.mcveigh@gmail.com.; The Institute of Cancer Research, London, UK., Lalloo F; Manchester Centre for Genomic Medicine, Manchester University Hospitals Foundation Trust, Manchester, UK., Monahan KJ; St Mark's the National Bowel Hospital and Academic Institute, London, UK.; Imperial College London, London, UK., Latchford A; The Polyposis Registry, St Mark's Centre for Familial Intestinal Cancer, St Mark's Hospital, London, UK.; Surgery and Cancer, Imperial College London, London, UK., Durkie M; Sheffield Diagnostic Genetics Service, North East and Yorkshire Genomic Laboratory Hub, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Mein R; NHS England, Redditch, UK., Baple EL; Medical Research (Level 4), RILD Wellcome Wolfson Centre, University of Exeter, Exeter, UK.; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Hanson H; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Faculty of Health and Life Sciences, University of Exeter Medical School, Exeter, UK.
Publikováno v:
Journal of medical genetics [J Med Genet] 2024 Jul 19; Vol. 61 (8), pp. 813-816. Date of Electronic Publication: 2024 Jul 19.
Autor:
Khalaf-Nazzal R; Faculty of Medicine, Arab American University of Palestine, Jenin, Palestine., Dweikat I; Faculty of Medicine, Arab American University of Palestine, Jenin, Palestine., Ubeyratna N; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK., Fasham J; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK., Alawneh M; Department of Medicine, College of Medicine and Health Sciences, An-Najah National University, Nablus, Palestine.; Paediatric Department, An-Najah National University Hospital, Nablus, Palestine., Leslie J; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK., Maree M; Department of Medicine, College of Medicine and Health Sciences, An-Najah National University, Nablus, Palestine., Gunning A; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK., Zayed DZ; Paediatric Department, An-Najah National University Hospital, Nablus, Palestine., Voutsina N; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK., McGavin L; University Hospitals Plymouth NHS Trust, Plymouth, UK.; University of Plymouth, Plymouth, UK., Sawafta R; Paediatric Department, An-Najah National University Hospital, Nablus, Palestine., Owens M; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK., Baker W; Paediatric Department, Dr. Khalil Suleiman Government Hospital, Jenin, Palestine., Turnpenny P; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK., Al-Hijawi F; Paediatric Community Outpatient Clinics, Palestinian Ministry of Health, Jenin, Palestine., Baple EL; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK., Crosby AH; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK., Rawlins LE; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63579. Date of Electronic Publication: 2024 Mar 04.
Autor:
Baple EL; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK. ebaple@nhs.net.; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK. ebaple@nhs.net., Scott RH; Great Ormond Street Hospital for Children, London, UK. richard.scott@genomicsengland.co.uk.; UCL Great Ormond Street Institute of Child Health, London, UK. richard.scott@genomicsengland.co.uk.; Genomics England, London, UK. richard.scott@genomicsengland.co.uk., Banka S; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Buchanan J; Health Economics and Policy Research Unit, Wolfson Institute of Population Health, Queen Mary University of London, London, UK., Fish L; Genetic Alliance UK, London, UK., Wynn S; Unique-Rare Chromosome Disorder Support Group, Oxted, UK., Wilkinson D; Faculty of Philosophy, Oxford Uehiro Centre for Practical Ethics, University of Oxford, Oxford, UK.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; John Radcliffe Hospital, Oxford University NHS Foundation Trust, Oxford, UK.; Centre for Biomedical Ethics, National University of, Singapore, Singapore., Ellard S; Exeter Genomics Laboratory, South West Genomic Laboratory Hub, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., MacArthur DG; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, 384 Victoria Street, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Stark Z; Murdoch Children's Research Institute, Melbourne, Victoria, Australia. zornitza.stark@vcgs.org.au.; Australian Genomics, Melbourne, Victoria, Australia. zornitza.stark@vcgs.org.au.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia. zornitza.stark@vcgs.org.au.
Publikováno v:
Nature medicine [Nat Med] 2024 Jul; Vol. 30 (7), pp. 1823-1825.