부산대학교 도서관

Hall, Emma A; Kumar, Dhivya; Prosser, Suzanna L; Yeyati, Patricia L; Herranz-Pérez, Vicente; García-Verdugo, Jose Manuel; Rose, Lorraine; McKie, Lisa; Dodd, Daniel O; Tennant, Peter A; Megaw, Roly; Murphy, Laura C; Ferreira, Marisa F; Grimes, Graeme; Williams, Lucy; Quidwai, Tooba; Pelletier, Laurence; Reiter, Jeremy F; Mill, Pleasantine

eLife. February 15, 2023, Vol. 12

Dodd, Daniel O; Mechaussier, Sabrina; Yeyati, Patricia L; McPhie, Fraser; Anderson, Jacob R; Khoo, Chen Jing; Shoemark, Amelia; Gupta, Deepesh K; Attard, Thomas; Zariwala, Maimoona A; Legendre, Marie; Bracht, Diana; Wallmeier, Julia; Gui, Miao; Fassad, Mahmoud R; Parry, David A; Tennant, Peter A; Meynert, Alison; Wheway, Gabrielle; Fares-Taie, Lucas; Black, Holly A; Mitri-Frangieh, Rana; Faucon, Catherine; Kaplan, Josseline; Patel, Mitali; McKie, Lisa; Megaw, Roly; Gatsogiannis, Christos; Mohamed, Mai A; Aitken, Stuart; Gautier, Philippe; Reinholt, Finn R; Hirst, Robert A; O'Callaghan, Chris; Heimdal, Ketil; Bottier, Mathieu; Escudier, Estelle; Crowley, Suzanne; Descartes, Maria; Jabs, Ethylin W; Kenia, Priti; Amiel, Jeanne; Bacci, Giacomo Maria; Calogero, Claudia; Palazzo, Viviana; Tiberi, Lucia; Blümlein, Ulrike; Rogers, Andrew; Wambach, Jennifer A; Wegner, Daniel J; Fulton, Anne B; Kenna, Margaret; Rosenfeld, Margaret; Holm, Ingrid A; Quigley, Alan; Hall, Emma A; Murphy, Laura C; Cassidy, Diane M; von Kriegsheim, Alex; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon, Jean-François; Pasquier, Laurent; Murris, Marlène S; Chalmers, James D; Hogg, Claire; Macleod, Kenneth A; Urquhart, Don S; Unger, Stefan; Aitman, Timothy J; Amselem, Serge; Leigh, Margaret W; Knowles, Michael R; Omran, Heymut; Mitchison, Hannah M; Brown, Alan; Marsh, Joseph A; Welburn, Julie PI; Ti, Shih-Chieh; Horani, Amjad; Rozet, Jean-Michel; Perrault, Isabelle; Mill, Pleasantine

Dodd DO; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.; Mechaussier S; Laboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases, Institut Imagine, Université de Paris, Paris 75015, France.; Yeyati PL; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.; McPhie F; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.; Anderson JR; Department of Biological Chemistry and Molecular Pharmacology, Blavatnik Institute, Harvard Medical School, Boston, MA 02215, USA.; Khoo CJ; School of Biomedical Sciences, The University of Hong Kong, Hong Kong SAR, China.; Shoemark A; Respiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee DD1 9SY, UK.; Respiratory Paediatrics, Royal Brompton Hospital, London SW3 6NP, UK.; Gupta DK; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130, USA.; Attard T; Wellcome Trust Centre for Cell Biology, School of Biological Sciences, University of Edinburgh, Edinburgh EH9 3BF, UK.; Zariwala MA; Department of Pathology and Laboratory Medicine, Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7248, USA.; Legendre M; Molecular Genetics Laboratory, Sorbonne Université, Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Armand Trousseau, Paris 75012, France.; Sorbonne Université, INSERM, Childhood Genetic Disorders, Paris 75012, France.; Bracht D; Department of General Pediatrics, University Children's Hospital Münster, Münster 48149, Germany.; Wallmeier J; Department of General Pediatrics, University Children's Hospital Münster, Münster 48149, Germany.; Gui M; Department of Biological Chemistry and Molecular Pharmacology, Blavatnik Institute, Harvard Medical School, Boston, MA 02215, USA.; Fassad MR; Genetics and Genomic Medicine Department, UCL Institute of Child Health, University College London, London WC1N 1EH, UK.; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria 21561, Egypt.; Parry DA; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.; Tennant PA; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.; Meynert A; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.; Wheway G; Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK.; Fares-Taie L; Laboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases, Institut Imagine, Université de Paris, Paris 75015, France.; Black HA; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.; South East of Scotland Genetics Service, Western General Hospital, Edinburgh EH4 2XU, UK.; Mitri-Frangieh R; Department of Anatomy, Cytology and Pathology, Hôpital Intercommuncal de Créteil, Créteil 94000, France.; Biomechanics and Respiratory Apparatus, IMRB, U955 INSERM - Université Paris Est Créteil, CNRS ERL 7000, Créteil 94000, France.; Faucon C; Department of Anatomy, Cytology and Pathology, Hôpital Intercommuncal de Créteil, Créteil 94000, France.; Kaplan J; Laboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases, Institut Imagine, Université de Paris, Paris 75015, France.; Patel M; Genetics and Genomic Medicine Department, UCL Institute of Child Health, University College London, London WC1N 1EH, UK.; MRC Prion Unit, Institute of Prion Diseases, University College London, London W1W 7FF, UK.; McKie L; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.; Megaw R; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.; Princess Alexandra Eye Pavilion, Edinburgh EH3 9HA, UK.; Gatsogiannis C; Center for Soft Nanoscience and Institute of Medical Physics and Biophysics, Münster 48149, Germany.; Mohamed MA; Genetics and Genomic Medicine Department, UCL Institute of Child Health, University College London, London WC1N 1EH, UK.; Biochemistry Division, Chemistry Department, Faculty of Science, Zagazig University, Ash Sharqiyah 44519, Egypt.; Aitken S; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.; Gautier P; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.; Reinholt FR; Core Facility for Electron Microscopy, Department of Pathology, Oslo University Hospital-Rikshospitalet, Oslo 0372, Norway.; Hirst RA; Centre for PCD Diagnosis and Research, Department of Respiratory Sciences, University of Leicester, Leicester LE1 9HN, UK.; O'Callaghan C; Centre for PCD Diagnosis and Research, Department of Respiratory Sciences, University of Leicester, Leicester LE1 9HN, UK.; Heimdal K; Department of Medical Genetics, Oslo University Hospital, Oslo 0407, Norway.; Bottier M; Respiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee DD1 9SY, UK.; Escudier E; Sorbonne Université, INSERM, Childhood Genetic Disorders, Paris 75012, France.; Department of Anatomy, Cytology and Pathology, Hôpital Intercommuncal de Créteil, Créteil 94000, France.; Crowley S; Paediatric Department of Allergy and Lung Diseases, Oslo University Hospital, Oslo 0407, Norway.; Descartes M; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294-0024, USA.; Jabs EW; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York 10029-6504, New York, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, NY 55905, USA.; Kenia P; Department of Paediatric Respiratory Medicine, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham B15 2TG, UK.; Amiel J; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris 75015, France.; Laboratory of Embryology and Genetics of Human Malformations, INSERM UMR 1163, Institut Imagine, Université de Paris, Paris 75015, France.; Bacci GM; Pediatric Ophthalmology Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy.; Calogero C; Pediatric Pulmonary Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy.; Palazzo V; Medical Genetics Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy.; Tiberi L; Medical Genetics Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy.; Blümlein U; Carl-Thiem-Klinikum Cottbus, Cottbus 03048, Germany.; Rogers A; Respiratory Paediatrics, Royal Brompton Hospital, London SW3 6NP, UK.; Wambach JA; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130, USA.; Wegner DJ; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130, USA.; Fulton AB; Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA.; Kenna M; Department of Otolaryngology, Boston Children's Hospital, Boston, MA 02115, USA.; Rosenfeld M; Department of Pediatrics, University of Washington School of Medicine and Seattle Children's Research Institute, Seattle, WA 98015, USA.; Holm IA; Division of Genetics and Genomics and the Manton Center for Orphan Diseases Research, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA 02115 USA.; Quigley A; Department of Paediatric Radiology, Royal Hospital for Children and Young People, Edinburgh EH16 4TJ, UK.; Hall EA; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.; Murphy LC; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.; Cassidy DM; Respiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee DD1 9SY, UK.; von Kriegsheim A; Cancer Research UK Edinburgh Centre, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.; Papon JF; ENT Department, Bicêtre Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris-Saclay University, Le Kremlin-Bicêtre 94270, France.; Pasquier L; Medical Genetics Department, CHU Pontchaillou, Rennes 35033, France.; Murris MS; Department of Pulmonology, Transplantation, and Cystic Fibrosis Centre, Larrey Hospital, Toulouse 31400, France.; Chalmers JD; Respiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee DD1 9SY, UK.; Hogg C; Respiratory Paediatrics, Royal Brompton Hospital, London SW3 6NP, UK.; Macleod KA; Department of Paediatric Respiratory and Sleep Medicine, Royal Hospital for Children and Young People, Edinburgh EH16 4TJ, UK.; Urquhart DS; Department of Paediatric Respiratory and Sleep Medicine, Royal Hospital for Children and Young People, Edinburgh EH16 4TJ, UK.; Department of Child Life and Health, University of Edinburgh, Edinburgh EH16 4TJ, UK.; Unger S; Department of Paediatric Respiratory and Sleep Medicine, Royal Hospital for Children and Young People, Edinburgh EH16 4TJ, UK.; Department of Child Life and Health, University of Edinburgh, Edinburgh EH16 4TJ, UK.; Aitman TJ; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.; Amselem S; Molecular Genetics Laboratory, Sorbonne Université, Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Armand Trousseau, Paris 75012, France.; Sorbonne Université, INSERM, Childhood Genetic Disorders, Paris 75012, France.; Leigh MW; Department of Pediatrics, Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7248, USA.; Knowles MR; Department of Medicine, Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7248, USA.; Omran H; Department of General Pediatrics, University Children's Hospital Münster, Münster 48149, Germany.; Mitchison HM; Genetics and Genomic Medicine Department, UCL Institute of Child Health, University College London, London WC1N 1EH, UK.; Brown A; Department of Biological Chemistry and Molecular Pharmacology, Blavatnik Institute, Harvard Medical School, Boston, MA 02215, USA.; Marsh JA; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.; Welburn JPI; Wellcome Trust Centre for Cell Biology, School of Biological Sciences, University of Edinburgh, Edinburgh EH9 3BF, UK.; Ti SC; School of Biomedical Sciences, The University of Hong Kong, Hong Kong SAR, China.; Horani A; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130, USA.; Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO 63110, USA.; Rozet JM; Laboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases, Institut Imagine, Université de Paris, Paris 75015, France.; Perrault I; Laboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases, Institut Imagine, Université de Paris, Paris 75015, France.; Mill P; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

Quidwai, Tooba; Wang, Jiaolong; Hall, Emma A; Petriman, Narcis A; Leng, Weihua; Kiesel, Petra; Wells, Jonathan N; Murphy, Laura C; Keighren, Margaret A; Marsh, Joseph A; Lorentzen, Esben; Pigino, Gaia; Mill, Pleasantine

eLife. November 4, 2021, Vol. 10

Stasiulewicz, Magdalena; Gray, Shona; Mastromina, Ioanna; Silva, Joana Clara; Bjorklund, Mia; Seymour, Philip A; Booth, David; Thompson, Calum; Green, Rich; Hall, Emma A; Serup, Palle; Dale, J Kim

Development.

Ford, Matthew J; Yeyati, Patricia L; Mali, Girish R; Keighren, Margaret A; Waddell, Scott H; Mjoseng, Heidi K; Douglas, Adam T; Hall, Emma A; Sakaue-Sawano, Asako; Miyawaki, Atsushi; Meehan, Richard R; Boulter, Luke; Jackson, Ian J; Mill, Pleasantine; Mort, Richard L

Dev Cell
Ford, M J, Yeyati, P L, Mali, G R, Keighren, M A, Waddell, S H, Mjoseng, H K, Douglas, A T, Hall, E A, Sakaue-Sawano, A, Miyawaki, A, Meehan, R R, Boulter, L, Jackson, I J, Mill, P & Mort, R L 2018, 'A Cell/Cilia Cycle Biosensor for Single-Cell Kinetics Reveals Persistence of Cilia after G1/S Transition Is a General Property in Cells and Mice', Developmental Cell, vol. 47, no. 4, E5, pp. 509-523. https://doi.org/10.1016/j.devcel.2018.10.027
Ford, M J, Yeyati, P, Mali, G, Keighren, M A, Waddell, S, Mjoseng, H K, Douglas, A T, Hall, E A, Sakaue-Sawano, A, Miyawaki, A, Meehan, R R, Boulter, L, Jackson, I J, Mill, P & Mort, R L 2018, ' A Cell/Cilia Cycle Biosensor for Single-Cell Kinetics Reveals Persistence of Cilia after G1/S Transition Is a General Property in Cells and Mice ', Developmental Cell, vol. 47, no. 4, pp. 509-523.e5 . https://doi.org/10.1016/j.devcel.2018.10.027

Hall EA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine at The University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.; Keighren M; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine at The University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.; Ford MJ; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine at The University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.; Davey T; Electron Microscopy Research Services, Medical School, Newcastle University, Newcastle, United Kingdom.; Jarman AP; Centre for Integrative Physiology, School of Biomedical Sciences, University of Edinburgh, Edinburgh, United Kingdom.; Smith LB; MRC Centre for Reproductive Health, University of Edinburgh, The Queen's Medical Research Institute, Edinburgh, United Kingdom.; Jackson IJ; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine at The University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.; Mill P; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine at The University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Hall EA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.; Nahorski MS; Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 OXY, UK; Department of Medical Genetics, University of Cambridge, and Cambridge NIHR Biomedical Research Centre, Cambridge Biomedical Campus, Cambridge CB2 OXY, UK.; Murray LM; Centre for Integrative Physiology, University of Edinburgh, Edinburgh EH8 9XD, UK; Euan McDonald Centre for Motor Neuron Disease Research, University of Edinburgh, Edinburgh EH16 4SB, UK.; Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Perkins E; Centre for Integrative Physiology, University of Edinburgh, Edinburgh EH8 9XD, UK; Euan McDonald Centre for Motor Neuron Disease Research, University of Edinburgh, Edinburgh EH16 4SB, UK.; Dissanayake KN; Euan McDonald Centre for Motor Neuron Disease Research, University of Edinburgh, Edinburgh EH16 4SB, UK; Patrick Wild Centre, University of Edinburgh, Edinburgh EH8 9XD, UK; Centre for Cognitive and Neural Systems, University of Edinburgh, Edinburgh EH8 9JZ, UK.; Kristaryanto Y; MRC Protein Phosphorylation and Ubiquitylation Unit, University of Dundee, Dundee DD1 5EH, UK.; Jones RA; Centre for Integrative Physiology, University of Edinburgh, Edinburgh EH8 9XD, UK; Euan McDonald Centre for Motor Neuron Disease Research, University of Edinburgh, Edinburgh EH16 4SB, UK.; Vogt J; West Midlands Regional Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham B15 2TG, UK.; Rivagorda M; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.; Handley MT; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.; Mali GR; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.; Quidwai T; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.; Soares DC; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK; Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.; Keighren MA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.; McKie L; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.; Mort RL; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.; Gammoh N; Edinburgh Cancer Research UK Centre, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.; Garcia-Munoz A; Systems Biology Ireland, University College Dublin, Dublin, Ireland.; Davey T; Electron Microscopy Research Services, Newcastle University, Newcastle NE2 4HH, UK.; Vermeren M; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.; Walsh D; West Midlands Regional Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham B15 2TG, UK.; Budd P; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.; Aligianis IA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.; Faqeih E; Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh 11211, Saudi Arabia.; Quigley AJ; NHS Lothian, Department of Paediatric Radiology, Royal Hospital for Sick Children, Edinburgh EH9 1LF, UK.; Jackson IJ; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.; Kulathu Y; MRC Protein Phosphorylation and Ubiquitylation Unit, University of Dundee, Dundee DD1 5EH, UK.; Jackson M; Centre for Integrative Physiology, University of Edinburgh, Edinburgh EH8 9XD, UK; Euan McDonald Centre for Motor Neuron Disease Research, University of Edinburgh, Edinburgh EH16 4SB, UK.; Ribchester RR; Euan McDonald Centre for Motor Neuron Disease Research, University of Edinburgh, Edinburgh EH16 4SB, UK; Patrick Wild Centre, University of Edinburgh, Edinburgh EH8 9XD, UK; Centre for Cognitive and Neural Systems, University of Edinburgh, Edinburgh EH8 9JZ, UK.; von Kriegsheim A; Edinburgh Cancer Research UK Centre, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK; Systems Biology Ireland, University College Dublin, Dublin, Ireland.; Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia.; Woods CG; Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 OXY, UK; Department of Medical Genetics, University of Cambridge, and Cambridge NIHR Biomedical Research Centre, Cambridge Biomedical Campus, Cambridge CB2 OXY, UK.; Maher ER; Department of Medical Genetics, University of Cambridge, and Cambridge NIHR Biomedical Research Centre, Cambridge Biomedical Campus, Cambridge CB2 OXY, UK. Electronic address: erm1000@medschl.cam.ac.uk.; Mill P; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. Electronic address: pleasantine.mill@igmm.ed.ac.uk.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Martin CA; Murray JE; Carroll P; Leitch A; MacKenzie KJ; Halachev M; Fetit AE; Keith C; Bicknell LS; Fluteau A; Gautier P; Hall EA; Joss S; Soares G; Silva J; Bober MB; Duker A; Wise CA; Quigley AJ; Phadke SR; Wood AJ; Vagnarelli P; Jackson AP

Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 8711660 Publication Model: Print Cited Medium: Internet ISSN: 1549-5477 (Electronic) Linking ISSN: 08909369 NLM ISO Abbreviation: Genes Dev Subsets: PubMed not MEDLINE

Martin CA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.; Murray JE; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.; Carroll P; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.; Leitch A; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.; Mackenzie KJ; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.; Halachev M; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.; Fetit AE; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.; Keith C; South East Scotland Cytogenetics Service, Western General Hospital, Edinburgh EH4 2XU, United Kingdom.; Bicknell LS; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand.; Fluteau A; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.; Gautier P; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.; Hall EA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.; Joss S; West of Scotland Genetic Service, Southern General Hospital, Glasgow G51 4TF, United Kingdom.; Soares G; Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar do Porto, 4099-028 Porto, Portugal.; Silva J; Instituto de Biologia Molecular e Celular (IBMC), 4150 Porto, Portugal.; Instituto de Investigação e Inovação em Saúde (I3S), Universidade do Porto, 4200-135 Porto, Portugal.; Bober MB; Division of Genetics, Department of Pediatrics, A.I. duPont Hospital for Children, Wilmington, Delaware 19803, USA.; Duker A; Division of Genetics, Department of Pediatrics, A.I. duPont Hospital for Children, Wilmington, Delaware 19803, USA.; Wise CA; Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, Texas 75219, USA.; Department of Orthopedic Surgery, Texas Scottish Rite Hospital for Children, Dallas, Texas 75219, USA.; Department of Pediatrics, Texas Scottish Rite Hospital for Children, Dallas, Texas 75219, USA.; McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas 75350, USA.; Quigley AJ; Department of Radiology, Royal Hospital for Sick Children, Edinburgh EH9 1LF, United Kingdom.; Phadke SR; Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh 226014, India.; Wood AJ; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.; Vagnarelli P; Biosciences, Research Institute for Health and Environment, Brunel University, London UB8 3PH, United Kingdom.; Jackson AP; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.

Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 8711660 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-5477 (Electronic) Linking ISSN: 08909369 NLM ISO Abbreviation: Genes Dev Subsets: MEDLINE

Stephen LA; Division of Developmental Biology, The Roslin Institute, University of Edinburgh, Edinburgh, United Kingdom.; Tawamie H; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Davis GM; Division of Developmental Biology, The Roslin Institute, University of Edinburgh, Edinburgh, United Kingdom.; Tebbe L; Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, Mainz, Germany.; Nürnberg P; Cologne Center for Genomics, Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.; Cologne Cluster of Excellence, University of Cologne, Cologne, Germany.; Nürnberg G; Cologne Center for Genomics, Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.; Thiele H; Cologne Center for Genomics, Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.; Thoenes M; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.; Boltshauser E; Department of Paediatric Neurology, University Children's Hospital Zurich, Zurich, Switzerland.; Uebe S; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Rompel O; Institute of Radiology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Ekici AB; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; McTeir L; Division of Developmental Biology, The Roslin Institute, University of Edinburgh, Edinburgh, United Kingdom.; Fraser AM; Division of Developmental Biology, The Roslin Institute, University of Edinburgh, Edinburgh, United Kingdom.; Hall EA; Medical Research Council Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.; Mill P; Medical Research Council Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.; Daudet N; UCL Ear Institute, University College London, London, United Kingdom.; Cross C; School of Osteopathic Medicine, A.T. Still University, Mesa, United States.; Wolfrum U; Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, Mainz, Germany.; Jamra RA; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Centogene, Rostock, Germany.; Institute of Human Genetics, Leipzig University, Leipzig, Germany.; Davey MG; Division of Developmental Biology, The Roslin Institute, University of Edinburgh, Edinburgh, United Kingdom.; Bolz HJ; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.; Bioscientia Center for Human Genetics, Bioscientia International Business, Ingelheim am Rhein, Germany.

Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

Zhang A; College of Life Sciences, Nankai University, Tianjin 300071, China. zhouwh@nankai.edu.cn.; Zhang T; Hall EA; Hutchinson S; Cryle MJ; Wong LL; Zhou W; Bell SG

Publisher: Royal Society of Chemistry Country of Publication: England NLM ID: 101251620 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1742-2051 (Electronic) Linking ISSN: 17422051 NLM ISO Abbreviation: Mol Biosyst Subsets: MEDLINE

Mill P; Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK. pleasantine.mill@hgu.mrc.ac.uk; Lockhart PJ; Fitzpatrick E; Mountford HS; Hall EA; Reijns MA; Keighren M; Bahlo M; Bromhead CJ; Budd P; Aftimos S; Delatycki MB; Savarirayan R; Jackson IJ; Amor DJ

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE