부산대학교 도서관

Tvergaard, NK; Tkemaladze, T; Stodberg, T; Kvarnung, M; Tatton-Brown, K; Baralle, D; Tumer, Z; Bayat, A

CLINICAL GENETICS. 106(4):427-436

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V.; McConnell, V.; Steventon-Jones, V.; Tripathi, V.; Cheah, W.; Clinch, Y.; Johnston, Y.; Wallis, Y.; Allen, Z.; Hyder, Z.; Kemp, Z.; Allen, Sophie ; Rowlands, Charlie F. ; Butler, Samantha ; Durkie, Miranda ; Horton, Carrie ; Pesaran, Tina ; Richardson, Marcy ; Robinson, Rachel ; Garrett, Alice ; Burghel, George J. ; Callaway, Alison ; Field, Joanne ; Frugtniet, Bethan ; Palmer-Smith, Sheila ; Grant, Jonathan ; Pagan, Judith ; McDevitt, Trudi ; Snape, Katie ; Andreou, Avgi ; Maher, Eamonn R. ; Hanson, Helen ; McVeigh, Terri ; Turnbull, Clare

In Genetics in Medicine November 2025 27(11)

Alexandra C. Martin-Geary; Alexander J.M. Blakes; Ruebena Dawes; Scott D. Findlay; Jenny Lord; Shan Dong; Susan Walker; Jonathan Talbot-Martin; Nechama Wieder; Elston N. D’Souza; Maria Fernandes; Sarah Hilton; Nayana Lahiri; Christopher Campbell; Sarah Jenkinson; Christian G.E.L. DeGoede; Emily R. Anderson; Toby Candler; Helen Firth; Christopher B. Burge; Stephan J. Sanders; Jamie Ellingford; Diana Baralle; Siddharth Banka; Nicola Whiffin

Genome Medicine, Vol 17, Iss 1, Pp 1-16 (2025)

Pagnamenta, AT; Yu, J; Willis, TA; Hashim, M; Seaby, EG; Walker, S; Xian, J; Cheng, EWY; Tavares, ALT; Forzano, F; Cox, H; Dabir, T; Brady, AF; Ghali, N; Atanur, SS; Ennis, S; Baralle, D; Taylor, JC

Turnbull, C.; Garrett, A.; Loong, L.; Choi, S.; Torr, B.; Allen, S.; Durkie, M.; Callaway, A.; Drummond, J.; Burghel, G.J.; Robinson, R.; Berry, I.R.; Wallace, A.J.; Eccles, D.M.; Tischkowitz, M.; Ellard, S.; Hanson, H.; Baple, E.; Evans, D.G.; Woodward, E.; Lalloo, F.; Samant, S.; Lucassen, A.; Znaczko, A.; Shaw, A.; Ansari, A.; Kumar, A.; Donaldson, A.; Murray, A.; Ross, A.; Taylor-Beadling, A.; Taylor, A.; Innes, A.; Brady, A.; Kulkarni, A.; Hogg, A.C.; Bowden, A. Ramsay; Hadonou, A.; Coad, B.; McIldowie, B.; Speight, B.; DeSouza, B.; Mullaney, B.; McKenna, C.; Brewer, C.; Olimpio, C.; Clabby, C.; Crosby, C.; Jenkins, C.; Armstrong, C.; Bowles, C.; Brooks, C.; Byrne, C.; Maurer, C.; Baralle, D.; Chubb, D.; Stobo, D.; Moore, D.; O'Sullivan, D.; Donnelly, D.; Randhawa, D.; Halliday, D.; Atkinson, E.; Rauter, E.; Johnston, E.; Maher, E.; Sofianopoulou, E.; Petrides, E.; McRonald, F.; Pelz, F.; Frayling, I.; Corbett, G.; Rea, G.; Clouston, H.; Powell, H.; Williamson, H.; Carley, H.; Thomas, H.J.W.; Tomlinson, I.; Cook, J.; Hoyle, J.; Tellez, J.; Whitworth, J.; Williams, J.; Murray, J.; Campbell, J.; Tolmie, J.; Field, J.; Mason, J.; Burn, J.; Bruty, J.; Callaway, J.; Grant, J.; Del Rey Jimenez, J.; Pagan, J.; VanCampen, J.; Barwell, J.; Monahan, K.; Tatton-Brown, K.; Ong, K.R.; Murphy, K.; Andrews, K.; Mokretar, K.; Cadoo, K.; Smith, K.; Baker, K.; Brown, K.; Reay, K.; McKay Bounford, K.; Bradshaw, K.; Russell, K.; Stone, K.; Snape, K.; Crookes, L.; Reed, L.; Taggart, L.; Yarram, L.; Cobbold, L.; Walker, L.; Hawkes, L.; Busby, L.; Izatt, L.; Kiely, L.; Hughes, L.; Side, L.; Sarkies, L.; Greenhalgh, K.-L.; Shanmugasundaram, M.; Duff, M.; Bartlett, M.; Watson, M.; Owens, M.; Bradford, M.; Huxley, M.; Slean, M.; Ryten, M.; Smith, M.; Ahmed, M.; Roberts, N.; O'Brien, C.; Middleton, O.; Tarpey, P.; Logan, P.; Dean, P.; May, P.; Brace, P.; Tredwell, R.; Harrison, R.; Hart, R.; Kirk, R.; Martin, R.; Nyanhete, R.; Wright, R.; Davidson, R.; Cleaver, R.; Talukdar, S.; Butler, S.; Sampson, J.; Ribeiro, S.; Dell, S.; Mackenzie, S.; Hegarty, S.; Albaba, S.; McKee, S.; Palmer-Smith, S.; Heggarty, S.; MacParland, S.; Greville-Heygate, S.; Daniels, S.; Prapa, S.; Abbs, S.; Tennant, S.; Hardy, S.; MacMahon, S.; McVeigh, T.; Foo, T.; Bedenham, T.; Cranston, T.; McDevitt, T.; Clowes, V.; Tripathi, V.; McConnell, V.; Woodwaer, N.; Wallis, Y.; Kemp, Z.; Mullan, G.; Pierson, L.; Rainey, L.; Joyce, C.; Timbs, A.; Reuther, A.-M.; Frugtniet, B.; Husher, C.; Lawn, C.; Corbett, C.; Nocera-Jijon, D.; Reay, D.; Cross, E.; Ryan, F.; Lindsay, H.; Oliver, J.; Dring, J.; Spiers, J.; Harper, J.; Ciucias, K.; Connolly, L.; Tsang, M.; Brown, R.; Shepherd, S.; Begum, S.; Tadiso, T.; Linton-Willoughby, T.; Heppell, H.; Sahan, K.; Worrillow, L.; Allen, Z.; Watt, C.; Hegarty, M.; Mitchell, R.; Coles, R.; Nickless, G.; Cojocaru, E.; Doal, I.; Sava, F.; McCarthy, C.; Jeeneea, R.; Goudie, D.; McConachie, M.; Botosneanu, S.; Kavanaugh, G.; Sherlaw, C.; Tsoulaki, O.; Forde, C.; Petley, E.; Jones, A.-B.; Oprych, K.; Pryde, S.; Hyder, Z.; Elkhateeb, N.; Braham, R.; Hanington, L.; Huntley, C.; Irving, R.; Sadan, A.; Ramos, M.; Elliot, C.; Wren, D.; Lobo, D.; McLean, J.; May, D.; Kearney, L.; Campbell, T.; Asakura, K.; Alwadi, L.; O’Shea, R.; Gabriel, J.; Chiecchio, L.; Bowman, P.; Sutton, L.A.; Walsh, C.; Cloke, V.; Ucanok, D.; Davies, J.; Pleasance, B.; Maguire, E.; Whaite, A.; Best, S.; Westbury, S.; Logan, A.; Navarajasegaran, D.; Bench, A.; Wightman, P.; Cartwright, A.; Higgs, E.; J.Bott; Whitehouse, H.; Stevens, J.; Martin, D.; Dunlop, J.; Thomas, S.; Sau, C.; Farndon, S.; Coleman, N.; Angelini, P.; Massey, H.; Rowlands, C.; Garcia-Petit, C.; Gillespie, K.; Alder, A.; Middleton, E.; Cassidy, C.; Orfali, N.; Webb, A.; Luharia, A.; Walker, N.; Charlton, J.; Andreou, A.; Peddie, J.; Khan, M.; Wilkinson, L.; Bezuidenhout, H.; Edis, M.; Callard, A.; Ostrowski, P.; Moverley, P.; Bean, K.; Dunne, A.; Moleirinho, A.; Waller, S.; Cox, K.; Greensmith, L.; Brittle, A.; Gossan, N.; Freestone, L.; Shak, C.; Langford, T.; Clinch, Y.; Livesey, H.; Borland, S.; Joshi, A.; Wall, K.; Whitworth, A.; Wilsdon, A.; Edgerley, K.; Pugh, S.; Chrysochoidi, N.; Mutch, S.; McMullan, C.; Johnston, Y.; Muraru, M.; May, A.; Begum, R.; Smith, C.; Patel, R.; Bhatnagar, I.; Brown, D.; Willan, J.; Taylor, S.; Jones, K.; Ramsden, C.; Taiwo, O.; Jaudzemaite, J.; Sharmin, R.; Young, L.; C.O’Dubhshlaine; McSorley, L.; Rodriguez, I. Abreu; Lillis, S.; Alexopoulos, P.; Mortensson, E.; Kingham, L.; Moore, R.; Kosicka-Slawinska, M.; Aslam, S.; Wells, R.; Carter, A.; Warren, H.; Rolf, E.; Reed, H.; Pearce, L.; Lock, D.; Ali, F.; Kolozi, A.; White, N.; Wood, D.; Hayden, C.; Garrett, Alice ; Allen, Sophie ; Durkie, Miranda ; Burghel, George J. ; Robinson, Rachel ; Callaway, Alison ; Field, Joanne ; Frugtniet, Bethan ; Palmer-Smith, Sheila ; Grant, Jonathan ; Pagan, Judith ; McDevitt, Trudi ; Rowlands, Charlie F. ; McVeigh, Terri ; Hanson, Helen ; Turnbull, Clare

In Genetics in Medicine October 2024

Rebecca D. Miller; Isaac Mondon; Charles Ellis; Anna-Marie Muir; Stephanie Turner; Eloise Keeling; Htoo A. Wai; David S. Chatelet; David A. Johnson; David A. Tumbarello; Andrew J. Lotery; Diana Baralle; J. Arjuna Ratnayaka

Cells, Vol 14, Iss 15, p 1166 (2025)

Jaramillo Oquendo, C; Wai, HA; Rich, WI; Bunyan, DJ; Thomas, NS; Hunt, D; Lord, J; Douglas, AGL; Baralle, D

Genome Med
Genome Medicine, Vol 16, Iss 1, Pp 1-19 (2024)

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Fraidenraich, Diego; Pena, Clara; Isola, Elvira L.; Lammel, Estela M.; Coso, Omar; Anel, Alberto Diaz; Pongor, Sandor; Baralle, Francisco; Torres, Hector N.; Flawia, Mirta M.

Proceedings of the National Academy of Sciences of the United States of America, 1993 Nov 01. 90(21), 10140-10144.

Ismail, V.; Zachariassen, L. G.; Godwin, A.; Sahakian, M.; Ellard, S.; Stals, K. L.; Baple, E.; Brown, K. T.; Foulds, N.; Wheway, G.; Parker, M. O.; Lyngby, S. M.; Pedersen, M. G.; Desir, J.; Bayat, A.; Musgaard, M.; Guille, M.; Kristensen, A. S.; Baralle, D.

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Villa-Vasquez SS; School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Nazlamova L; School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Pengelly RJ; School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Wilson DI; School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK. d.i.wilson@soton.ac.uk.; Baralle D; School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK. d.baralle@soton.ac.uk.; Wheway G; School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK. g.wheway@soton.ac.uk.

Publisher: BioMed Central Country of Publication: England NLM ID: 101741148 Publication Model: Electronic Cited Medium: Internet ISSN: 2661-8850 (Electronic) Linking ISSN: 26618850 NLM ISO Abbreviation: BMC Mol Cell Biol Subsets: MEDLINE

Fló, Juan; Beatriz Perez, Ana; Tisminetzky, Sergio; Baralle, Francisco

Vaccine. 18(28):3242-3253

Brock S; Department of Pathology, Universitair Ziekenhuis Brussel, Brussels, Belgium Stefanie.Brock@vub.be.; Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, Brussels, Belgium.; Laquerriere A; Normandy Centre for Genomic and Personalized Medicine, INSERM U1245, Rouen, France.; Department of Pathology, Rouen University Hospital, Rouen, France.; Marguet F; Normandy Centre for Genomic and Personalized Medicine, INSERM U1245, Rouen, France.; Department of Pathology, Rouen University Hospital, Rouen, France.; Myers SJ; Department of Pharmacology and Chemical Biology, Emory University School of Medicine Atlanta, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine Atlanta, Atlanta, Georgia, USA.; Hongjie Y; Department of Pharmacology and Chemical Biology, Emory University School of Medicine Atlanta, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine Atlanta, Atlanta, Georgia, USA.; Baralle D; Human Development and Health, University of Southampton, Southampton, UK.; Vanderhasselt T; Department of Radiology, Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.; Stouffs K; Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, Brussels, Belgium.; Center for Reproduction and Genetics, Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.; Keymolen K; Center for Reproduction and Genetics, Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.; Kim S; Department of Pharmacology and Chemical Biology, Emory University School of Medicine Atlanta, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine Atlanta, Atlanta, Georgia, USA.; Allen J; Department of Pharmacology and Chemical Biology, Emory University School of Medicine Atlanta, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine Atlanta, Atlanta, Georgia, USA.; Shaulsky G; Department of Pharmacology and Chemical Biology, Emory University School of Medicine Atlanta, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine Atlanta, Atlanta, Georgia, USA.; Chelly J; Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS UMR 7104, INSERM U1258, Université de Strasbourg, Strasbourg, France.; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaire de Strasbourg, Strasbourg, France.; Marcorelle P; Service d'Anatomie Pathologique, Centre Hospitalier Universitaire de Brest; Laboratoire Neurosciences de Brest, Université de Brest, Brest, France.; Aziza J; Department of Pathology, University Institute for Cancer, Toulouse, France.; Villard L; Inserm, Marseille Medical Genetics Center, Aix-Marseille University, Marseille, France.; Department of Medical Genetics, La Timone Children's Hospital, Marseille, France.; Sacaze E; Department of Pediatrics, Centre Hospitalier Universitaire de Brest, Brest, France.; de Wit MCY; Department of Pediatric Neurology, ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.; Wilke M; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Mancini GMS; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Hehr U; Center for Human Genetics, Universitätsklinikum Regensburg, Regensburg, Germany.; Lim D; West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, University of Southampton, Southampton, UK.; Mansour S; SW Thames Regional Genetics Service, University of London St George's Molecular and Clinical Sciences Research Institute, London, UK.; Traynelis SF; Department of Pharmacology and Chemical Biology, Emory University School of Medicine Atlanta, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine Atlanta, Atlanta, Georgia, USA.; Beneteau C; Département de Génétique, Hôpital Universitaire de Nantes, Nantes, France.; UF de Fœtopathologie et Génétique, CHU Nantes, Nantes, France.; Denis-Musquer M; UF de Fœtopathologie et Génétique, CHU Nantes, Nantes, France.; Department of Pathology, CHU Nantes, Nantes, France.; Jansen AC; Pediatric Neurology Unit, Universitair Ziekenhuis Antwerpen, Antwerp, Belgium.; Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, UK.; Bahi-Buisson N; Pediatric Neurology, Necker Enfants Malades Hospital, Université de Paris, Paris, France.; Embryology and Genetics of Congenital Malformations, Institut Imagine (INSERM UMR-1163), Paris, France.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Samant, S.; Lucassen, A.; Znaczko, A.; Shaw, A.; Ansari, A.; Kumar, A.; Donaldson, A.; Murray, A.; Ross, A.; Taylor-Beadling, A.; Taylor, A.; Innes, A.; Brady, A.; Kulkarni, A.; Hogg, A.-C.; Bowden, A. Ramsay; Hadonou, A.; Coad, B.; McIldowie, B.; Speight, B.; DeSouza, B.; Mullaney, B.; McKenna, C.; Brewer, C.; Olimpio, C.; Clabby, C.; Crosby, C.; Jenkins, C.; Armstrong, C.; Bowles, C.; Brooks, C.; Byrne, C.; Maurer, C.; Baralle, D.; Chubb, D.; Stobo, D.; Moore, D.; O'Sullivan, D.; Donnelly, D.; Randhawa, D.; Halliday, D.; Atkinson, E.; Baple, E.; Rauter, E.; Johnston, E.; Woodward, E.; Maher, E.; Sofianopoulou, E.; Petrides, E.; Lalloo, F.; McRonald, F.; Pelz, F.; Frayling, I.; Evans, G.; Corbett, G.; Rea, G.; Clouston, H.; Powell, H.; Williamson, H.; Carley, H.; Thomas, H.J.W.; Tomlinson, I.; Cook, J.; Hoyle, J.; Tellez, J.; Whitworth, J.; Williams, J.; Murray, J.; Campbell, J.; Tolmie, J.; Field, J.; Mason, J.; Burn, J.; Bruty, J.; Callaway, J.; Grant, J.; Del Rey Jimenez, J.; Pagan, J.; VanCampen, J.; Barwell, J.; Monahan, K.; Tatton-Brown, K.; Ong, K.-R.; Murphy, K.; Andrews, K.; Mokretar, K.; Cadoo, K.; Smith, K.; Baker, K.; Brown, K.; Reay, K.; McKay Bounford, K.; Bradshaw, K.; Russell, K.; Stone, K.; Snape, K.; Crookes, L.; Reed, L.; Taggart, L.; Yarram, L.; Cobbold, L.; Walker, L.; Hawkes, L.; Busby, L.; Izatt, L.; Kiely, L.; Hughes, L.; Side, L.; Sarkies, L.; Greenhalgh, K.-L.; Shanmugasundaram, M.; Duff, M.; Bartlett, M.; Watson, M.; Owens, M.; Bradford, M.; Huxley, M.; Slean, M.; Ryten, M.; Smith, M.; Ahmed, M.; Roberts, N.; O'Brien, C.; Middleton, O.; Tarpey, P.; Logan, P.; Dean, P.; May, P.; Brace, P.; Tredwell, R.; Harrison, R.; Hart, R.; Kirk, R.; Martin, R.; Nyanhete, R.; Wright, R.; Davidson, R.; Cleaver, R.; Talukdar, S.; Butler, S.; Sampson, J.; Ribeiro, S.; Dell, S.; Mackenzie, S.; Hegarty, S.; Albaba, S.; McKee, S.; Palmer-Smith, S.; Heggarty, S.; MacParland, S.; Greville-Heygate, S.; Daniels, S.; Prapa, S.; Abbs, S.; Tennant, S.; Hardy, S.; MacMahon, S.; McVeigh, T.; Foo, T.; Bedenham, T.; Cranston, T.; McDevitt, T.; Clowes, V.; Tripathi, V.; McConnell, V.; Woodwaer, N.; Wallis, Y.; Kemp, Z.; Mullan, G.; Pierson, L.; Rainey, L.; Joyce, C.; Timbs, A.; Reuther, A.-M.; Frugtniet, B.; Husher, C.; Lawn, C.; Corbett, C.; Nocera-Jijon, D.; Reay, D.; Cross, E.; Ryan, F.; Lindsay, H.; Oliver, J.; Dring, J.; Spiers, J.; Harper, J.; Ciucias, K.; Connolly, L.; Tsang, M.; Brown, R.; Shepherd, S.; Begum, S.; Tadiso, T.; Linton-Willoughby, T.; Heppell, H.; Sahan, K.; Worrillow, L.; Allen, Z.; Barlett, M.; Watt, C.; Hegarty, M.; Loong, Lucy ; Cubuk, Cankut ; Choi, Subin ; Allen, Sophie ; Torr, Beth ; Garrett, Alice ; Loveday, Chey ; Durkie, Miranda ; Callaway, Alison ; Burghel, George J. ; Drummond, James ; Robinson, Rachel ; Berry, Ian R. ; Wallace, Andrew ; Eccles, Diana M. ; Tischkowitz, Marc ; Ellard, Sian ; Ware, James S. ; Hanson, Helen ; Turnbull, Clare

In Genetics in Medicine March 2022 24(3):552-563

Bilson, Josh; Oquendo, Carolina J.; Read, James; Scorletti, Eleonora; Afolabi, Paul R.; Lord, Jenny; Bindels, Laure B.; Targher, Giovanni; Mahajan, Sumeet; Baralle, Diana; Calder, Philip C.; Byrne, Christopher D.; Sethi, Jaswinder K.

Metabolism. 151

Lord J; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Oquendo CJ; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Wai HA; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Douglas AGL; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Bunyan DJ; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.; Wang Y; Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.; Hu Z; University of California, Berkeley, Berkeley, CA, 94720, USA.; Zeng Z; Department of Biochemistry and Microbiology, Rutgers University, New Brunswick, NJ, 08873, USA.; Danis D; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT, 06032, USA.; Katsonis P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Williams A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Lichtarge O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Chang Y; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, University of Sydney, Sydney, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, Australia.; Bagnall RD; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, University of Sydney, Sydney, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, Australia.; Mount SM; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD, USA.; Matthiasardottir B; Graduate Program in Biological Sciences and Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD, USA.; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, USA.; Lin C; DNAnexus, Mountain View, CA, 94040, USA.; Hansen TVO; Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Leman R; Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse, Caen, France.; Inserm U1245, Cancer Brain and Genomics, Normandie Université, UNICAEN, FHU G4 génomique, Rouen, France.; Martins A; Inserm U1245, Cancer Brain and Genomics, Normandie Université, UNIROUEN, FHU G4 génomique, Rouen, France.; Houdayer C; Inserm U1245, Cancer Brain and Genomics, Normandie Université, UNIROUEN, FHU G4 génomique, Rouen, France.; Department of Genetics, Univ Rouen Normandie, INSERM U1245, FHU-G4 Génomique and CHU Rouen, 76000, Rouen, France.; Krieger S; Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse, Caen, France.; Inserm U1245, Cancer Brain and Genomics, Normandie Université, UNICAEN, FHU G4 génomique, Rouen, France.; Bakolitsa C; University of California, Berkeley, Berkeley, CA, 94720, USA.; Peng Y; Khoury College of Computer Sciences, Northeastern University, Boston, MA, 02115, USA.; Kamandula A; Khoury College of Computer Sciences, Northeastern University, Boston, MA, 02115, USA.; Radivojac P; Khoury College of Computer Sciences, Northeastern University, Boston, MA, 02115, USA.; Baralle D; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK. d.baralle@soton.ac.uk.; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK. d.baralle@soton.ac.uk.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Jamie M. Ellingford; Joo Wook Ahn; Richard D. Bagnall; Diana Baralle; Stephanie Barton; Chris Campbell; Kate Downes; Sian Ellard; Celia Duff-Farrier; David R. FitzPatrick; John M. Greally; Jodie Ingles; Neesha Krishnan; Jenny Lord; Hilary C. Martin; William G. Newman; Anne O’Donnell-Luria; Simon C. Ramsden; Heidi L. Rehm; Ebony Richardson; Moriel Singer-Berk; Jenny C. Taylor; Maggie Williams; Jordan C. Wood; Caroline F. Wright; Steven M. Harrison; Nicola Whiffin

Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)

Kitaba NT; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Workman L; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital and SA-MRC Unit on Child & Adolescent Health, University of Cape Town, Cape Town, South Africa.; Cohen C; Center for Respiratory disease and Meningitis, National Institute for Communicable Diseases, a division of the National Health Laboratory Service, 1 Modderfontein Road Sandringham, South Africa.; School of Public Health, University of the Witwatersrand, Johanneburg, South Africa.; Baralle D; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; National Health, Service (NHS) Foundation Trust Southampton, UK.; NIHR Southampton Biomedical Research Centre, University Hospitals Southampton, Southampton, UK.; Kong E; National Heart and Lung Institute, Imperial College London, London, UK.; Botha M; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital and SA-MRC Unit on Child & Adolescent Health, University of Cape Town, Cape Town, South Africa.; Johnson M; Great Ormond Street Institute of Child Health University College London, UK.; National Heart and Lung Institute, Imperial College London, London, UK.; Goldblatt D; Great Ormond Street Institute of Child Health University College London, UK.; National Heart and Lung Institute, Imperial College London, London, UK.; Nicol MP; The University of Western Australia: Perth, Australia.; Holloway JW; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; NIHR Southampton Biomedical Research Centre, University Hospitals Southampton, Southampton, UK.; Zar HJ; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital and SA-MRC Unit on Child & Adolescent Health, University of Cape Town, Cape Town, South Africa.

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Anne H. O’Donnell-Luria; Lynn S. Pais; Víctor Faundes; Jordan C. Wood; Abigail Sveden; Victor Luria; Rami Abou Jamra; Andrea Accogli; Kimberly Amburgey; Britt Marie Anderlid; Silvia Azzarello-Burri; Alice A. Basinger; Claudia Bianchini; Lynne M. Bird; Rebecca Buchert; Wilfrid Carre; Sophia Ceulemans; Perrine Charles; Helen Cox; Lisa Culliton; Aurora Currò; Florence Demurger; James J. Dowling; Benedicte Duban-Bedu; Christèle Dubourg; Saga Elise Eiset; Luis F. Escobar; Alessandra Ferrarini; Tobias B. Haack; Mona Hashim; Solveig Heide; Katherine L. Helbig; Ingo Helbig; Raul Heredia; Delphine Héron; Bertrand Isidor; Amy R. Jonasson; Pascal Joset; Boris Keren; Fernando Kok; Hester Y. Kroes; Alinoë Lavillaureix; Xin Lu; Saskia M. Maas; Gustavo H.B. Maegawa; Carlo L.M. Marcelis; Paul R. Mark; Marcelo R. Masruha; Heather M. McLaughlin; Kirsty McWalter; Esther U. Melchinger; Saadet Mercimek-Andrews; Caroline Nava; Manuela Pendziwiat; Richard Person; Gian Paolo Ramelli; Luiza L.P. Ramos; Anita Rauch; Caitlin Reavey; Alessandra Renieri; Angelika Rieß; Amarilis Sanchez-Valle; Shifteh Sattar; Carol Saunders; Niklas Schwarz; Thomas Smol; Myriam Srour; Katharina Steindl; Steffen Syrbe; Jenny C. Taylor; Aida Telegrafi; Isabelle Thiffault; Doris A. Trauner; Helio van der Linden; Silvana van Koningsbruggen; Laurent Villard; Ida Vogel; Julie Vogt; Yvonne G. Weber; Ingrid M. Wentzensen; Elysa Widjaja; Jaroslav Zak; Samantha Baxter; Siddharth Banka; Lance H. Rodan; Jeremy F. McRae; Stephen Clayton; Tomas W. Fitzgerald; Joanna Kaplanis; Elena Prigmore; Diana Rajan; Alejandro Sifrim; Stuart Aitken; Nadia Akawi; Mohsan Alvi; Kirsty Ambridge; Daniel M. Barrett; Tanya Bayzetinova; Philip Jones; Wendy D. Jones; Daniel King; Netravathi Krishnappa; Laura E. Mason; Tarjinder Singh; Adrian R. Tivey; Munaza Ahmed; Uruj Anjum; Hayley Archer; Ruth Armstrong; Jana Awada; Meena Balasubramanian; Diana Baralle; Angela Barnicoat; Paul Batstone; David Baty; Chris Bennett; Jonathan Berg; Birgitta Bernhard; A. Paul Bevan; Maria Bitner-Glindzicz; Edward Blair; Moira Blyth; David Bohanna; Louise Bourdon; David Bourn; Lisa Bradley; Angela Brady; Simon Brent; Carole Brewer; Kate Brunstrom; David J. Bunyan; John Burn; Natalie Canham; Bruce Castle; Kate Chandler; Elena Chatzimichali; Deirdre Cilliers; Angus Clarke; Susan Clasper; Jill Clayton-Smith; Virginia Clowes; Andrea Coates; Trevor Cole; Irina Colgiu; Amanda Collins; Morag N. Collinson; Fiona Connell; Nicola Cooper; Lara Cresswell; Gareth Cross; Yanick Crow; Mariella D’Alessandro; Tabib Dabir; Rosemarie Davidson; Sally Davies; Dylan de Vries; John Dean; Charu Deshpande; Gemma Devlin; Abhijit Dixit; Angus Dobbie; Alan Donaldson; Dian Donnai; Deirdre Donnelly; Carina Donnelly; Angela Douglas; Sofia Douzgou; Alexis Duncan; Jacqueline Eason; Sian Ellard; Ian Ellis; Frances Elmslie; Karenza Evans; Sarah Everest; Tina Fendick; Richard Fisher; Frances Flinter; Nicola Foulds; Andrew Fry; Alan Fryer; Carol Gardiner; Lorraine Gaunt; Neeti Ghali; Richard Gibbons; Harinder Gill; Judith Goodship; David Goudie; Emma Gray; Andrew Green; Philip Greene; Lynn Greenhalgh; Susan Gribble; Rachel Harrison; Lucy Harrison; Victoria Harrison; Rose Hawkins; Liu He; Stephen Hellens; Alex Henderson; Sarah Hewitt; Lucy Hildyard; Emma Hobson; Simon Holden; Muriel Holder; Susan Holder; Georgina Hollingsworth; Tessa Homfray; Mervyn Humphreys; Jane Hurst; Ben Hutton; Stuart Ingram; Melita Irving; Lily Islam; Andrew Jackson; Joanna Jarvis; Lucy Jenkins; Diana Johnson; Elizabeth Jones; Dragana Josifova; Shelagh Joss; Beckie Kaemba; Sandra Kazembe; Rosemary Kelsell; Bronwyn Kerr; Helen Kingston; Usha Kini; Esther Kinning; Gail Kirby; Claire Kirk; Emma Kivuva; Alison Kraus; Dhavendra Kumar; V. K. Ajith Kumar; Katherine Lachlan; Wayne Lam; Anne Lampe; Caroline Langman; Melissa Lees; Derek Lim; Cheryl Longman; Gordon Lowther; Sally A. Lynch; Alex Magee; Eddy Maher; Alison Male; Sahar Mansour; Karen Marks; Katherine Martin; Una Maye; Emma McCann; Vivienne McConnell; Meriel McEntagart; Ruth McGowan; Kirsten McKay; Shane McKee; Dominic J. McMullan; Susan McNerlan; Catherine McWilliam; Sarju Mehta; Kay Metcalfe; Anna Middleton; Zosia Miedzybrodzka; Emma Miles; Shehla Mohammed; Tara Montgomery; David Moore; Sian Morgan; Jenny Morton; Hood Mugalaasi; Victoria Murday; Helen Murphy; Swati Naik; Andrea Nemeth; Louise Nevitt; Ruth Newbury-Ecob; Andrew Norman; Rosie O’Shea; Caroline Ogilvie; Kai-Ren Ong; Soo-Mi Park; Michael J. Parker; Chirag Patel; Joan Paterson; Stewart Payne; Daniel Perrett; Julie Phipps; Daniela T. 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Karen Temple; Jenny Thomson; Marc Tischkowitz; Susan Tomkins; Audrey Torokwa; Becky Treacy; Claire Turner; Peter Turnpenny; Carolyn Tysoe; Anthony Vandersteen; Vinod Varghese; Pradeep Vasudevan; Parthiban Vijayarangakannan; Emma Wakeling; Sarah Wallwark; Jonathon Waters; Astrid Weber; Diana Wellesley; Margo Whiteford; Sara Widaa; Sarah Wilcox; Emily Wilkinson; Denise Williams; Nicola Williams; Louise Wilson; Geoff Woods; Christopher Wragg; Michael Wright; Laura Yates; Michael Yau; Chris Nellåker; Michael Parker; Helen V. Firth; Caroline F. Wright; David R. FitzPatrick; Jeffrey C. Barrett; Matthew E. Hurles

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Nixon, K; Rousseau, J; Stone, M; Sarikahya, M; Ehresmann, S; Mizuno, S; Matsumoto, N; Miyake, N; Baralle, D; Mckee, S; Izumi, K; Ritter, A; Heide, S; Heron, D; Depienne, Christel; Titheradge, H; Kramer, J; Campeau, P

The American Journal of Human Genetics. 104:596-610