Peter Scambler
1985–2025 年に発表
- 118
- 論文数
- 28,505
- 被引用数
- 92
- h 指数
- 117
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Biochemistry, Genetics and Molecular Biology66.6%
- Medicine22.8%
- Neuroscience5.8%
- Immunology and Microbiology1.4%
- Agricultural and Biological Sciences0.9%
- Engineering0.6%
- その他1.9%
トピック
- Congenital heart defects research7%
- Genomics and Chromatin Dynamics3.6%
- Genetic and Kidney Cyst Diseases3.2%
- Genomic variations and chromosomal abnormalities3.2%
- Epigenetics and DNA Methylation3.1%
- Congenital Heart Disease Studies2.5%
- その他77.4%
共著者
- John Burn11
- Miriam Schmidts11
- David I. Wilson10
- Antonio Baldini9
- Brandon J. Wainwright9
- Philip L. Beales9
- Bernice E. Morrow8
- Catherine Roberts8
- Raoul C. M. Hennekam8
- Frances R. Goodman7
- Judith Goodship7
- Richard D. Emes7
- Adrian S. Woolf6
- Dinu Antony6
- Elizabeth Lindsay6
- Hülya Kayserili6
- Robert Williamson6
- Stephanie Halford6
- Alisoun H. Carey5
- Daniyal J. Jafree5
- Judith A. Goodship5
- Robert J. Shprintzen5
- Rosalie Goldberg5
- Sarah Ivins5
全論文
- 22q11.2 deletion syndrome
著者: Donna M. McDonald‐McGinn, Kathleen E. Sullivan, Bruno Marino, Nicole Philip, Ann Swillen, Jacob Vorstman, Elaine H. Zackai, Beverly S. Emanuel, Joris Vermeesch, Bernice E. Morrow, Peter Scambler, Anne S. Bassett - Nature Reviews Disease Primers 2015 被引用: 2,238
- Distinct Factors Control Histone Variant H3.3 Localization at Specific Genomic Regions
著者: Aaron D. Goldberg, Laura A. Banaszynski, Kyung‐Min Noh, Peter W. Lewis, Simon J. Elsaesser, Sonja C. Stadler, Scott Dewell, Martin J. Law, Xingyi Guo, Xuan Li, Duancheng Wen, Ariane Chapgier, Russell C. DeKelver, Jeffrey C. Miller, Ya-Li Lee, Elizabeth A. Boydston, Michael C. Holmes, Philip D. Gregory, John M. Greally, Shahin Rafii, Chingwen Yang, Peter Scambler, David Garrick, Richard J. Gibbons, Douglas R. Higgs, Ileana M. Cristea, Fyodor D. Urnov, Deyou Zheng, C. David Allis - Cell 2010 被引用: 1,292
- Hyperdynamic Plasticity of Chromatin Proteins in Pluripotent Embryonic Stem Cells
著者: Eran Meshorer, Dhananjay Yellajoshula, Eric M. George, Peter Scambler, David T. Brown, Tom Misteli - Developmental Cell 2006 被引用: 1,003
- TBX1 Is Responsible for Cardiovascular Defects in Velo-Cardio-Facial/DiGeorge Syndrome
著者: Sandra Merscher, Birgit Funke, Jonathan A. Epstein, Joerg Heyer, Anne Puech, Min Lü, Ramnik J. Xavier, Marie B. Demay, Robert G. Russell, Stephen M. Factor, Kazuhito Tokooya, Bruno St. Jore, Melissa E Lopez, Raj K. Pandita, Marie Lia, Danaise Carrion, Hui Xu, Hubert Schorle, James B. Kobler, Peter Scambler, Anthony Wynshaw‐Boris, Arthur I. Skoultchi, Bernice E. Morrow, Raju Kucherlapati - Cell 2001 被引用: 991
- Molecular genetics of 22q11.2 deletion syndrome
著者: Bernice E. Morrow, Donna M. McDonald‐McGinn, Beverly S. Emanuel, Joris Vermeesch, Peter Scambler - American Journal of Medical Genetics Part A 2018 被引用: 149
- Spatiotemporal dynamics and heterogeneity of renal lymphatics in mammalian development and cystic kidney disease
著者: Daniyal J. Jafree, Dale Moulding, Maria Kolatsi‐Joannou, Nuria Perretta Tejedor, Karen Price, Natalie J. Milmoe, Claire Walsh, Rosa Maria Correra, Paul J.D. Winyard, Peter C. Harris, Christiana Ruhrberg, Simon Walker‐Samuel, Paul R. Riley, Adrian S. Woolf, Peter Scambler, David A. Long - eLife 2019 被引用: 77
- Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice
著者: Elizabeth A. Lindsay, Francesca Vitelli, Hong Hua Su, Masae Morishima, Tuong Huynh, Tiziano Pramparo, Vesna Jurecic, George Ogunrinu, Helen Sutherland, Peter Scambler, Allan Bradley, Antonio Baldini - Nature 2001 被引用: 1,042
- Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
著者: Nicholas Katsanis, Stephen J. Ansley, José L. Badano, Erica R. Eichers, Richard A. Lewis, Bethan E. Hoskins, Peter Scambler, William S. Davidson, Philip L. Beales, James R. Lupski - Science 2001 被引用: 663
- Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase
著者: Philippa B. Mills, Robert Surtees, M. P. Champion, Clare Beesley, Neil Dalton, Peter Scambler, Simon Heales, A. Briddon, Irene Scheimberg, Georg F. Hoffmann, Johannes Zschocke, Peter T. Clayton - Human Molecular Genetics 2005 被引用: 307
- Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia
著者: Alexandros Onoufriadis, Tamara Paff, Dinu Antony, Amelia Shoemark, Dimitra Micha, Bertus Kuyt, Miriam Schmidts, Stavroula Petridi, Jeanette E. Dankert-Roelse, Eric G. Haarman, Johannes M. A. Daniels, Richard D. Emes, Robert Wilson, Claire Hogg, Peter Scambler, Eddie M.K. Chung, Gerard Pals, Hannah M. Mitchison - The American Journal of Human Genetics 2012 被引用: 194
- The CXCL12/CXCR4 Axis Plays a Critical Role in Coronary Artery Development
著者: Sarah Ivins, Joel Chappell, Bertrand Vernay, Jenifer P. Suntharalingham, Alexandrine Martineau, Timothy J. Mohun, Peter Scambler - Developmental Cell 2015 被引用: 155
- A new nomenclature for int-1 and related genes: The Wnt gene family
著者: Roel Nusse, Anthony M.C. Brown, J Papkoff, Peter Scambler, Gregory M. Shackleford, Andrew P. McMahon, Randall T. Moon, Harold Varmus - Cell 1991 被引用: 362
- Mutations inCCDC39andCCDC40are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms
著者: Dinu Antony, Anita Becker-Heck, Maimoona A. Zariwala, Miriam Schmidts, Alexandros Onoufriadis, Mitra Forouhan, Robert Wilson, Theresa Taylor-Cox, A Dewar, Claire Jackson, Patricia Goggin, Niki T. Loges, Heike Olbrich, Martine Jaspers, Mark Jorissen, Margaret W. Leigh, Whitney Wolf, M. Leigh Anne Daniels, Peadar G. Noone, Thomas W. Ferkol, Scott D. Sagel, Margaret Rosenfeld, Andrew Rutman, Abhijit Dixit, Christopher O’Callaghan, Jane S. Lucas, Claire Hogg, Peter Scambler, Richard D. Emes, UKK, Eddie M.K. Chung, Amelia Shoemark, Michael R. Knowles, Heymut Omran, Hannah M. Mitchison - Human Mutation 2012 被引用: 192
- Localization of the gene for familial adenomatous polyposis on chromosome 5
著者: Walter F. Bodmer, Clyde Bailey, J. G. Bodmer, H J R Bussey, Anthony Ellis, Patricia Gorman, Frances C. Lucibello, Victoria A. Murday, Sue Rider, Peter Scambler, Denise Sheer, E. Solomon, N.K. Spurr - Nature 1987 被引用: 1,389
- Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
著者: A K Ryan, Judith A. Goodship, David I. Wilson, N. Philip, A. Lévy, H. Seidel, Simone Schuffenhauer, H Oechsler, B. H. Belohradsky, M Prieur, Alain Aurias, F. Lucy Raymond, Jill Clayton‐Smith, Eli Hatchwell, C McKeown, F. A. Beemer, Bruno Dallapiccola, Giuseppe Novelli, J A Hurst, Jaakko Ignatius, Andrew Green, R M Winter, L A Brueton, Karen Brøndum‐Nielsen, Peter Scambler - Journal of Medical Genetics 1997 被引用: 1,197
- Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: Implications for 22q11 deletion syndrome
著者: Richard Paylor, Beate Glaser, Annalisa Mupo, Paris Ataliotis, Corinne M. Spencer, Angela Sobotka, Chelsey Sparks, Chul-Hee Choi, John S. Oghalai, Sarah Curran, Kieran C. Murphy, Stephen Monks, Nigel Williams, Michael O‘Donovan, Michael J. Owen, Peter Scambler, Elizabeth Lindsay - National Academy of Sciences, Proceedings of the National Academy of Sciences 2006 被引用: 390
- Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice
著者: Victoria Randall, Karen McCue, Catherine Roberts, Vanessa Kyriakopoulou, Sarah Beddow, Angela N. Barrett, Francesca Vitelli, Katrina Prescott, Charles Shaw‐Smith, Koenraad Devriendt, Erika A. Bosman, Georg Steffes, Karen P. Steel, Subreena Simrick, M. Albert Basson, Elizabeth Illingworth, Peter Scambler - Journal of Clinical Investigation 2009 被引用: 150
- Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene
著者: Stephen R.F. Twigg, Sarah L. Versnel, Gudrun Nürnberg, Melissa Lees, Meenakshi Bhat, Peter Hammond, Raoul C. M. Hennekam, A. Jeannette M. Hoogeboom, Jane A. Hurst, David H. Johnson, Alexis Robinson, Peter Scambler, Dianne Gerrelli, Peter Nürnberg, Irene M.J. Mathijssen, Andrew O.M. Wilkie - The American Journal of Human Genetics 2009 被引用: 139
- Mechanisms and cell lineages in lymphatic vascular development
著者: Daniyal J. Jafree, David A. Long, Peter Scambler, Christiana Ruhrberg - Angiogenesis 2021 被引用: 47
- An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
著者: Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard W. Dougherty, Ideke J.C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J.F. Letteboer, Carlo Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Képès, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group, Saeed Al-Turki, Carl E. Anderson, Dinu Antony, Inês Barroso, Jamie Bentham, Shoumo Bhattacharya, Keren Carss, Krishna Chatterjee, Sebahattin Çirak, Catherine Cosgrove, Petr Danecek, Richard Durbin, David Fitzpatrick, Jamie Floyd, A. Reghan Foley, Chris Franklin, Marta Futema, Steve E. Humphries, Matt Hurles, Christopher Joyce, Shane McCarthy, Hannah M. Mitchison, Dawn Muddyman, Francesco Muntoni, Stephen O’Rahilly, Alexandros Onoufriadis, Felicity Payne, Vincent Plagnol, Lucy Raymond, David B. Savage, Peter Scambler, Miriam Schmidts, Nadia Schoenmakers, Robert K. Semple, Eva Serra, Jim Stalker, Margriet van Kogelenberg, Parthiban Vijayarangakannan, Klaudia Walter, Ros Whittall, Kathy Williamson - Nature Communications 2016 被引用: 259
- Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
著者: Jan Halbritter, Albane A. Bizet, Miriam Schmidts, Jonathan D. Porath, Daniela A. Braun, Heon Yung Gee, Aideen McInerney‐Leo, Pauline Krug, Emilie Filhol, Erica E. Davis, Rannar Airik, Peter G. Czarnecki, Anna Lehman, Peter Trnka, Patrick Nitschké, Christine Bôle‐Feysot, Markus Schueler, Bertrand Knebelmann, Stéphane Burtey, Attila J. Szabó, Kálmán Tory, Paul Leo, Brooke Gardiner, Fiona A. McKenzie, Andreas Zankl, Matthew A. Brown, Jane Hartley, Eamonn R. Maher, Chunmei Li, Michel R. Leroux, Peter Scambler, Shing H. Zhan, Steven J.M. Jones, Hülya Kayserili, Beyhan Tüysüz, Khemchand N Moorani, Alexandru R. Constantinescu, Ian D. Krantz, Bernard S. Kaplan, Jagesh V. Shah, Toby W. Hurd, Dan Doherty, Nicholas Katsanis, Emma L. Duncan, Edgar A. Otto, Philip L. Beales, Hannah M. Mitchison, Sophie Saunier, Friedhelm Hildebrandt - The American Journal of Human Genetics 2013 被引用: 231
- A common region of 10p deleted in DiGeorge and velocardiofacial syndromes
著者: S. C. M. Daw, Catherine Taylor, Matthew Kraman, Kathy Call, Jen-i Mao, Simone Schuffenhauer, Thomas Meitinger, Tony Lipson, Judith Goodship, Peter Scambler - Nature Genetics 1996 被引用: 219
- Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease
著者: Miriam Schmidts, Valeska Frank, Tobias Eisenberger, Saeed Al Turki, Albane A. Bizet, Dinu Antony, Suzanne Rix, Christian Decker, Nadine Bachmann, Martin Bald, Tobias Vinke, Burkhard Toenshoff, Nataliya Di Donato, Theresa Neuhann, Jane Hartley, Eamonn R. Maher, Radovan Bogdanović, Amira Peco‐Antić, Christoph J. Mache, Matthew E. Hurles, Ivana Joksić, Marija Guć‐Šćekić, Jelena Dobričić, Mirjana Branković-Magić, UK10K, Hanno J. Bolz, Gregory J. Pazour, Philip L. Beales, Peter Scambler, Sophie Saunier, Hannah M. Mitchison, Carsten Bergmann - Human Mutation 2013 被引用: 139
- MOZ Regulates the Tbx1 Locus, and Moz Mutation Partially Phenocopies DiGeorge Syndrome
著者: Anne K. Voss, Hannah Vanyai, Caitlin Collin, Mathew P. Dixon, Tamara J. McLennan, Bilal N. Sheikh, Peter Scambler, Tim Thomas - Developmental Cell 2012 被引用: 103
