부산대학교 도서관

Watts, LM; Kinning, E; Latner, DR; Johnston, M; Patrick‐Esteve, J; Cooper, GM; Twigg, SRF; Pagnamenta, AT; Taylor, JC

Clin Genet

Rots, D.; Choufani, S.; Faundes, V.; Dingemans, A.J.M.; Joss, S.; Foulds, N.; Jones, E.A.; Stewart, S.; Vasudevan, P.; Dabir, T.; Park, S.M.; Jewell, R.; Brown, N.; Pais, L.; Jacquemont, S.; Jizi, K.; Ravenswaaij-Arts, C.M.A.V.; Kroes, H.Y.; Stumpel, C.T.; Ockeloen, C.W.; Diets, I.J.; Nizon, M.; Vincent, M.; Cogné, B.; Besnard, T.; Kambouris, M.; Anderson, E.; Zackai, E.H.; McDougall, C.; Donoghue, S.; O'Donnell-Luria, A.; Valivullah, Z.; O'Leary, M.; Srivastava, S.; Byers, H.; Leslie, N.; Mazzola, S.; Tiller, G.E.; Vera, M.; Shen, J.J.; Boles, R.; Jain, V.; Brischoux-Boucher, E.; Kinning, E.; Simpson, B.N.; Giltay, J.C.; Harris, J.; Keren, B.; Guimier, A.; Marijon, P.; Vries, B.B.A.; Motter, C.S.; Mendelsohn, B.A.; Coffino, S.; Gerkes, E.H.; Afenjar, A.; Visconti, P.; Bacchelli, E.; Maestrini, E.; Delahaye-Duriez, A.; Gooch, C.; Hendriks, Y.; Adams, H.; Thauvin-Robinet, C.; Josephi-Taylor, S.; Bertoli, M.; Parker, M.J.; Rutten, J.W.; Caluseriu, O.; Vernon, H.J.; Kaziyev, J.; Zhu, J.; Kremen, J.; Frazier, Z.; Osika, H.; Breault, D.; Nair, S.; Lewis, S.M.E.; Ceroni, F.; Viggiano, M.; Posar, A.; Brittain, H.; Giovanna, T.; Giulia, G.; Quteineh, L.; Ha-Vinh Leuchter, R.; Zonneveld-Huijssoon, E.; Mellado, C.; Marey, I.; Coudert, A.; Aracena Alvarez, M.I.; Kennis, M.G.P.; Bouman, A.; Roifman, M.; Amorós Rodríguez, M.I.; Ortigoza-Escobar, J.D.; Vernimmen, V.; Sinnema, M.; Pfundt, R.P.; Brunner, H.G.; Vissers, L.E.L.M.; Kleefstra, T.; Weksberg, R.; Banka, S.

American Journal of Human Genetics, 111, 8, pp. 1626-1642
Rots, D, Choufani, S, Faundes, V, Dingemans, A J M, Joss, S, Foulds, N, Jones, E A, Stewart, S, Vasudevan, P, Dabir, T, Park, S-M, Jewell, R, Pais, L, Jacquemont, S, Jizi, K, Ravenswaaij-Arts, C M A V, Kroes, H Y, Stumpel, C T R M, Ockeloen, C W, Diets, I J, Nizon, M, Vincent, M, Cogné, B, Besnard, T, Kambouris, M, Anderson, E, Zackai, E H, McDougall, C, Donoghue, S, O'Donnell-Luria, A, Valivullah, Z, O'Leary, M, Srivastava, S, Byers, H, Leslie, N, Mazzola, S, Tiller, G E, Vera, M, Shen, J J, Boles, R, Jain, V, Brischoux-Boucher, E, Kinning, E, Simpson, B N, Giltay, J C, Harris, J, Keren, B, Guimier, A, Marijon, P, Vries, B B A D, Motter, C S, Mendelsohn, B A, Coffino, S, Gerkes, E H, Afenjar, A, Visconti, P, Bacchelli, E, Maestrini, E, Delahaye-Duriez, A, Gooch, C, Hendriks, Y, Adams, H, Thauvin-Robinet, C, Josephi-Taylor, S, Bertoli, M, Rutten, J W, Caluseriu, O, Vernon, H J, Kaziyev, J, Kremen, J, Frazier, Z, Osika, H, Breault, D, Nair, S, Lewis, S M E, Ceroni, F, Viggiano, M, Posar, A, Brittain, H, Giovanna, T, Giulia, G, Quteineh, L, Ha-Vinh Leuchter, R, Zonneveld-Huijssoon, E, Mellado, C, Marey, I, Coudert, A, Aracena Alvarez, M I, Kennis, M G P, Bouman, A, Roifman, M, Amorós Rodríguez, M I, Ortigoza-Escobar, J D, Vernimmen, V, Sinnema, M, Pfundt, R, Brunner, H G, Vissers, L E L M, Kleefstra, T, Weksberg, R & Banka, S 2024, 'Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes', American Journal of Human Genetics, vol. 111, no. 8, pp. 1626-1642. https://doi.org/10.1016/j.ajhg.2024.06.009, https://doi.org/10.1016/j.ajhg.2024.06.009.
American Journal of Human Genetics, vol 111, iss 8

Galbraith, Matthew D.; Kinning, Kohl T.; Sullivan, Kelly D.; Araya, Paula; Smith, Keith P.; Granrath, Ross E.; Shaw, Jessica R.; Baxter, Ryan; Jordan, Kimberly R.; Russell, Seth; Dzieciatkowska, Monika; Reisz, Julie A.; Gamboni, Fabia; Cendali, Francesca; Ghosh, Tusharkanti; Guo, Kejun; Wilson, Cara C.; Santiago, Mario L.; Monte, Andrew A.; Bennett, Tellen D.; Hansen, Kirk C.; Hsieh, Elena W. Y.; D’Alessandro, Angelo; Espinosa, Joaquin M.

Proceedings of the National Academy of Sciences of the United States of America, 2022 Mar . 119(11), 1-12.

Micah G. Donovan; Angela L. Rachubinski; Keith P. Smith; Paula Araya; Katherine A. Waugh; Belinda Enriquez-Estrada; Eleanor C. Britton; Hannah R. Lyford; Ross E. Granrath; Kyndal A. Schade; Kohl T. Kinning; Neetha Paul Eduthan; Kelly D. Sullivan; Matthew D. Galbraith; Joaquin M. Espinosa

Cell Reports, Vol 43, Iss 8, Pp 114599- (2024)

Green CE; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital, OPD2, Northern General Hospital, Sheffield, UK. Claire.green13@nhs.net.; Albaba S; Sheffield Diagnostic Genetics Service, Sheffield, UK.; Sobey GJ; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital, OPD2, Northern General Hospital, Sheffield, UK.; Bowen JM; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital, OPD2, Northern General Hospital, Sheffield, UK.; Donnelly DE; Northern Ireland Regional Genetics Centre, Belfast, Northern Ireland.; Colombi M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.; Ritelli M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.; Melville A; Wessex Clinical Genetics Service Level G, Princess Anne Hospital, Southampton, UK.; Ghali N; Ehlers-Danlos Syndrome National Diagnostic Service, North West London Hospitals NHS Trust, Harrow, Middlesex, UK.; van Dijk FS; Ehlers-Danlos Syndrome National Diagnostic Service, North West London Hospitals NHS Trust, Harrow, Middlesex, UK.; Hobson E; Department of Clinical Genetics, Chapel Allerton Hospital, Yorkshire Regional Genetics Service, Leeds, UK.; Radley JA; North West Thames Regional Genetics Service, Harrow, Middlesex, UK.; Kinning E; West Midlands Clinical Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, Birmingham, UK.; Dixit A; Nottingham Clinical Genetics Department, The Gables, Nottingham City Hospital, Nottingham, UK.; McCullough S; Northern Ireland Regional Genetics Centre, Belfast, Northern Ireland.; Baker D; Sheffield Diagnostic Genetics Service, Sheffield, UK.; Johnson DS; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital, OPD2, Northern General Hospital, Sheffield, UK. Diana.johnson1@nhs.net.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Fitzgerald, T.W.; Gerety, S.S.; Jones, W.D.; van Kogelenberg, M.; King, D.A.; McRae, J.; Morley, K.I.; Parthiban, V.; Al-Turki, S.; Ambridge, K.; Barrett, D.M.; Bayzetinova, T.; Clayton, S.; Coomber, E.L.; Gribble, S.; Jones, P.; Krishnappa, N.; Mason, L.E.; Middleton, A.; Miller, R.; Prigmore, E.; Rajan, D.; Sifrim, A.; Tivey, A.R.; Ahmed, M.; Akawi, N.; Andrews, R.; Anjum, U.; Archer, H.; Armstrong, R.; Balasubramanian, M.; Banerjee, R.; Barelle, D.; Batstone, P.; Baty, D.; Bennett, C.; Berg, J.; Bernhard, B.; Bevan, A.P.; Blair, E.; Blyth, M.; Bohanna, D.; Bourdon, L.; Bourn, D.; Brady, A.; Bragin, E.; Brewer, C.; Brueton, L.; Brunstrom, K.; Bumpstead, S.J.; Bunyan, D.J.; Burn, J.; Burton, J.; Canham, N.; Castle, B.; Chandler, K.; Clasper, S.; Clayton-Smith, J.; Cole, T.; Collins, A.; Collinson, M.N.; Connell, F.; Cooper, N.; Cox, H.; Cresswell, L.; Cross, G.; Crow, Y.; D’Alessandro, P.M.; Dabir, T.; Davidson, R.; Davies, S.; Dean, J.; Deshpande, C.; Devlin, G.; Dixit, A.; Dominiczak, A.; Donnelly, C.; Donnelly, D.; Douglas, A.; Duncan, A.; Eason, J.; Edkins, S.; Ellard, S.; Ellis, P.; Elmslie, F.; Evans, K.; Everest, S.; Fendick, T.; Fisher, R.; Flinter, F.; Foulds, N.; Fryer, A.; Fu, B.; Gardiner, C.; Gaunt, L.; Ghali, N.; Gibbons, R.; Pereira, S.L. Gomes; Goodship, J.; Goudie, D.; Gray, E.; Greene, P.; Greenhalgh, L.; Harrison, L.; Hawkins, R.; Hellens, S.; Henderson, A.; Hobson, E.; Holden, S.; Holder, S.; Hollingsworth, G.; Homfray, T.; Humphreys, M.; Hurst, J.; Ingram, S.; Irving, M.; Jarvis, J.; Jenkins, L.; Johnson, D.; Jones, D.; Jones, E.; Josifova, D.; Joss, S.; Kaemba, B.; Kazembe, S.; Kerr, B.; Kini, U.; Kinning, E.; Kirby, G.; Kirk, C.; Kivuva, E.; Kraus, A.; Kumar, D.; Lachlan, K.; Lam, W.; Lampe, A.; Langman, C.; Lees, M.; Lim, D.; Lowther, G.; Lynch, S.A.; Magee, A.; Maher, E.; Mansour, S.; Marks, K.; Martin, K.; Maye, U.; McCann, E.; McConnell, V.; McEntagart, M.; McGowan, R.; McKay, K.; McKee, S.; McMullan, D.J.; McNerlan, S.; Mehta, S.; Metcalfe, K.; Miles, E.; Mohammed, S.; Montgomery, T.; Moore, D.; Morgan, S.; Morris, A.; Morton, J.; Mugalaasi, H.; Murday, V.; Nevitt, L.; Newbury-Ecob, R.; Norman, A.; O’Shea, R.; Ogilvie, C.; Park, S.; Parker, M.J.; Patel, C.; Paterson, J.; Payne, S.; Phipps, J.; Pilz, D.T.; Porteous, D.; Pratt, N.; Prescott, K.; Price, S.; Pridham, A.; Proctor, A.; Purnell, H.; Ragge, N.; Rankin, J.; Raymond, L.; Rice, D.; Robert, L.; Roberts, E.; Roberts, G.; Roberts, J.; Roberts, P.; Ross, A.; Rosser, E.; Saggar, A.; Samant, S.; Sandford, R.; Sarkar, A.; Schweiger, S.; Scott, C.; Scott, R.; Selby, A.; Seller, A.; Sequeira, C.; Shannon, N.; Sharif, S.; Shaw-Smith, C.; Shearing, E.; Shears, D.; Simonic, I.; Simpkin, D.; Singzon, R.; Skitt, Z.; Smith, A.; Smith, B.; Smith, K.; Smithson, S.; Sneddon, L.; Splitt, M.; Squires, M.; Stewart, F.; Stewart, H.; Suri, M.; Sutton, V.; Swaminathan, G.J.; Sweeney, E.; Tatton-Brown, K.; Taylor, C.; Taylor, R.; Tein, M.; Temple, I.K.; Thomson, J.; Tolmie, J.; Torokwa, A.; Treacy, B.; Turner, C.; Turnpenny, P.; Tysoe, C.; Vandersteen, A.; Vasudevan, P.; Vogt, J.; Wakeling, E.; Walker, D.; Waters, J.; Weber, A.; Wellesley, D.; Whiteford, M.; Widaa, S.; Wilcox, S.; Williams, D.; Williams, N.; Woods, G.; Wragg, C.; Wright, M.; Yang, F.; Yau, M.; Carter, N.P.; Parker, M.; Firth, H.V.; FitzPatrick, D.R.; Wright, C.F.; Barrett, J.C.; Hurles, M.E.; Aitken, Stuart ; Firth, Helen V. ; McRae, Jeremy ; Halachev, Mihail ; Kini, Usha ; Parker, Michael J. ; Lees, Melissa M. ; Lachlan, Katherine ; Sarkar, Ajoy ; Joss, Shelagh ; Splitt, Miranda ; McKee, Shane ; Németh, Andrea H. ; Scott, Richard H. ; Wright, Caroline F. ; Marsh, Joseph A. ; Hurles, Matthew E. ; FitzPatrick, David R.

In The American Journal of Human Genetics 7 November 2019 105(5):933-946

Matthew D Galbraith; Kohl T Kinning; Kelly D Sullivan; Ryan Baxter; Paula Araya; Kimberly R Jordan; Seth Russell; Keith P Smith; Ross E Granrath; Jessica R Shaw; Monika Dzieciatkowska; Tusharkanti Ghosh; Andrew A Monte; Angelo D'Alessandro; Kirk C Hansen; Tellen D Benett; Elena WY Hsieh; Joaquín M Espinosa

eLife, Vol 10 (2021)

Menke, L.A.; Gardeitchik, T.; Hammond, P.; Heimdal, K.R.; Houge, G.; Hufnagel, S.B.; Ji, J.L.; Johansson, S.; Kant, S.G.; Kinning, E.; Leon, E.L.; Newbury-Ecob, R.; Paolacci, S.; Pfundt, R.; Ragge, N.K.; Rinne, T.; Ruivenkamp, C.; Saitta, S.C.; Sun, Y.; Tartaglia, M.; Terhal, P.A.; Essen, A.J. van; Vigeland, M.D.; Xiao, B.; Hennekam, R.C.; DDD Study

American Journal of Medical Genetics. Part A, 176, 4, pp. 862-876

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Allen SK; West Midlands Regional Genetics Laboratory, Central and South Genomic Laboratory Hub, Birmingham, UK.; Chandler NJ; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Kinning E; West Midlands Regional Clinical Genetics Service, Birmingham Women's and Children's Foundation Trust, Birmingham, UK.; Harrison V; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.; Brothwell SLC; Department of Inherited Metabolic Diseases, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Vijay S; Department of Inherited Metabolic Diseases, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Castleman J; Fetal Medicine Department, Birmingham Women's and Children's Foundation Trust, Birmingham, UK.; Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Boncompagni A.; Lucas-Herald A. K.; Beattie P.; McDevitt H.; Iughetti L.; Constantinou P.; Kinning E.; Ahmed S. F.; Mason A.

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Marianne E. Lien; Simone Abram

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Wall E; Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Forsyth J; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Kinning E; Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Marton T; Histopathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Laskowski RA; Tyagi N; Johnson D; Joss S; Kinning E; McWilliam C; Splitt M; Thornton JM; Firth HV; Wright CF; DDD Study

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Nature

Tse WT; Fetal Medicine, Birmingham Women's Hospital, Birmingham, West Midlands, UK.; Bass C; West Midlands Regional Genetics Laboratory, Birmingham Women's Hospital, Birmingham, West Midlands, UK.; Gurney L; Fetal Medicine, Birmingham Women's Hospital, Birmingham, West Midlands, UK.; Kinning E; West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham, West Midlands, UK.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

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