Veronica van Heyningen
1947–2024 年に発表
- 89
- 論文数
- 20,309
- 被引用数
- 79
- h 指数
- 89
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Biochemistry, Genetics and Molecular Biology70.2%
- Medicine14.8%
- Neuroscience8.4%
- Immunology and Microbiology2.6%
- Agricultural and Biological Sciences1.4%
- Pharmacology, Toxicology and Pharmaceutics0.7%
- その他1.9%
トピック
- Developmental Biology and Gene Regulation7%
- Renal and related cancers4%
- Genomics and Chromatin Dynamics3.2%
- Neurogenesis and neuroplasticity mechanisms3.1%
- Retinal Development and Disorders3%
- Epigenetics and DNA Methylation2.6%
- その他77.1%
共著者
- Kathleen A. Williamson20
- Isabel M. Hanson15
- Nicholas D. Hastie12
- Anne Seawright11
- David Fitzpatrick11
- Anthony T. Moore10
- Dirk A. Kleinjan10
- Sanjay M. Sisodiya7
- Wendy A. Bickmore7
- Jacqueline K. Rainger6
- Judy Fantes6
- Judy Fletcher6
- Andrew R. Webster5
- Birgit Lorenz5
- Graeme C. Black5
- Jane Prosser5
- Joe Rainger5
- Melissa H. Little5
- Morad Ansari5
- Penny Rashbass5
- S. L. Free5
- Tim Jordan5
- David J. Porteous4
- Dieter Engelkamp4
全論文
- The Level of the Transcription Factor Pax6 Is Essential for Controlling the Balance between Neural Stem Cell Self-Renewal and Neurogenesis
著者: Stephen N. Sansom, Dean Griffiths, Andrea Faedo, Dirk‐Jan Kleinjan, Youlin Ruan, James Smith, Veronica van Heyningen, John L.R. Rubenstein, Frederick J. Livesey - PLoS Genetics 2009 被引用: 413
- Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia
著者: Shipra Bhatia, Hemant Bengani, Margaret B. Fish, Alison Brown, Maria Teresa Divizia, Riccardo De Marco, Giuseppe Damante, Robert M. Grainger, Veronica van Heyningen, Dirk A. Kleinjan - The American Journal of Human Genetics 2013 被引用: 204
- Pax6 Controls Progenitor Cell Identity and Neuronal Fate in Response to Graded Shh Signaling
著者: Johan Ericson, Penny Rashbass, Andreas Schedl, Susan Brenner‐Morton, Atsushi Kawakami, Veronica van Heyningen, Thomas M. Jessell, James Briscoe - Cell 1997 被引用: 1,062
- Mutations in SOX2 cause anophthalmia
著者: Judy Fantes, Nicola Ragge, Sally Ann Lynch, Niolette I. McGill, J. R. O. Collin, Patricia N. Howard‐Peebles, Caroline Hayward, Anthony J. Vivian, Kathy Williamson, Veronica van Heyningen, David Fitzpatrick - Nature Genetics 2003 被引用: 543
- A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
著者: Meriel McEntagart, Kathleen A. Williamson, Jacqueline K. Rainger, Ann P. Wheeler, Anne Seawright, Elfride De Baere, Hannah Verdin, L. Therese Bergendahl, Alan J. Quigley, Joe Rainger, Abhijit Dixit, Ajoy Sarkar, Eduardo Laso, Rocı́o Sánchez-Carpintero, Jesús Barrio‐Barrio, Pierre Bitoun, Trine Prescott, Ruth Riise, Shane McKee, Jackie Cook, Lisa McKie, Berten Ceulemans, Françoise Meire, I. Karen Temple, Fabienne Prieur, Jonathan Williams, Penny Clouston, Andrea H. Németh, Siddharth Banka, Hemant Bengani, Mark T. Handley, Elisabeth Freyer, Allyson Ross, Veronica van Heyningen, Joseph A. Marsh, Frances Elmslie, David Fitzpatrick - The American Journal of Human Genetics 2016 被引用: 104
- Long-Range Control of Gene Expression: Emerging Mechanisms and Disruption in Disease
著者: Dirk A. Kleinjan, Veronica van Heyningen - The American Journal of Human Genetics 2004 被引用: 878
- Subnuclear localization of WT1 in splicing or transcription factor domains is regulated by alternative splicing
著者: Stefan Larsson, Jean-Paul Charlieu, Kiyoshi Miyagawa, Dieter Engelkamp, Minoo Rassoulzadegan, Allyson Ross, François Cuzin, Veronica van Heyningen, N D Hastie - Cell 1995 被引用: 510
- Aniridia
著者: Melanie Hingorani, Isabel M. Hanson, Veronica van Heyningen - European Journal of Human Genetics 2012 被引用: 245
- SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
著者: Natalie D. Shaw, Harrison Brand, Zachary A Kupchinsky, Hemant Bengani, Lacey Plummer, Takako I. Jones, Serkan Erdin, Kathleen A. Williamson, Joe Rainger, Alexei Stortchevoi, Kaitlin E. Samocha, Benjamin Currall, Donncha S. Dunican, Ryan L. Collins, Jason R. Willer, Angela Lek, Monkol Lek, Malik Nassan, Shahrin Pereira, Tammy Kammin, Diane Lucente, Alexandra Silva, Catarina M. Seabra, Colby Chiang, Yu An, Morad Ansari, Jacqueline K. Rainger, Shelagh Joss, Jill Smith, Margaret Lippincott, Sylvia Singh, Nirav Patel, Jenny W Jing, Jennifer Law, Nalton Ferraro, Alain Verloès, Anita Rauch, Katharina Steindl, Markus Zweier, Ianina Scheer, Daisuke Sato, Nobuhiko Okamoto, Christina M. Jacobsen, Jeanie B. Tryggestad, Steven D. Chernausek, Lisa A. Schimmenti, Benjamin Brasseur, Claudia Cesaretti, José Elías García‐Ortíz, Tatiana Pineda Buitrago, Orlando Pérez Silva, Jodi D. Hoffman, W. Mühlbauer, Klaus W. Ruprecht, Bart Loeys, Masato Shino, Angela M. Kaindl, Chie Hee Cho, Cynthia C. Morton, Richard R. Meehan, Veronica van Heyningen, Eric C. Liao, Ravikumar Balasubramanian, Janet E. Hall, Stephanie B. Seminara, Daniel G. MacArthur, Steven A. Moore, Koh-ichiro Yoshiura, James F. Gusella, Joseph A. Marsh, John M. Graham, Angela E. Lin, Nicholas Katsanis, Peter L. Jones, William F. Crowley, Erica E. Davis, David Fitzpatrick, Michael E. Talkowski - Nature Genetics 2017 被引用: 162
- Mouse Small eye results from mutations in a paired-like homeobox-containing gene
著者: Robert E. Hill, Jack Favor, Brigid L.M. Hogan, Carl C.T. Ton, Grady F. Saunders, Isabel M. Hanson, Jane Prosser, Tim Jordan, Nicholas D. Hastie, Veronica van Heyningen - Nature 1991 被引用: 1,162
- Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype
著者: Judy Fantes, B. Redeker, Matthew Breen, Shelagh Boyle, John M. Brown, Judy Fletcher, Sinéad Jones, Wendy A. Bickmore, Yoshimitsu Fukushima, Marcel M. A. M. Mannens, Sarah Danes, Veronica van Heyningen, Isabel M. Hanson - Human Molecular Genetics 1995 被引用: 218
- Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region
著者: Carl C.T. Ton, Harri Hirvonen, Hiroshi Miwa, Michael M. Weil, Paula Monaghan, Tim Jordan, Veronica van Heyningen, Nicholas D. Hastie, Hanne Meijers‐Heijboer, Matthias Drechsler, Brigitte Royer‐Pokora, Francis S. Collins, Anand Swaroop, Louise C. Strong, Grady F. Saunders - Cell 1991 被引用: 870
- The human PAX6 gene is mutated in two patients with aniridia
著者: Tim Jordan, Isabel M. Hanson, Dmitri Zaletayev, Shirley Hodgson, Jane Prosser, Anne Seawright, Nicholas D. Hastie, Veronica van Heyningen - Nature Genetics 1992 被引用: 570
- Influence of PAX6 Gene Dosage on Development: Overexpression Causes Severe Eye Abnormalities
著者: Andreas Schedl, Allyson Ross, Muriel Lee, Dieter Engelkamp, Penny Rashbass, Veronica van Heyningen, Nicholas D. Hastie - Cell 1996 被引用: 439
- Subfunctionalization of Duplicated Zebrafish pax6 Genes by cis-Regulatory Divergence
著者: Dirk A. Kleinjan, Ruth M Bancewicz, Philippe Gautier, Ralf Dahm, Helia B. Schönthaler, Giuseppe Damante, Anne Seawright, Ann Hever, Patricia L. Yeyati, Veronica van Heyningen, Pedro M. Coutinho - PLoS Genetics 2008 被引用: 178
- Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome
著者: Morad Ansari, Jacqueline K. Rainger, Isabel M. Hanson, Kathleen A. Williamson, Freddie H. Sharkey, Louise Harewood, Angela Sandilands, Jill Clayton‐Smith, Hélène Dollfus, Pierre Bitoun, Françoise Meire, Judy Fantes, Brunella Franco, Birgit Lorenz, David S. Taylor, Fiona Stewart, Colin E. Willoughby, Meriel McEntagart, Peng T. Khaw, Carol L. Clericuzio, Lionel Van Maldergem, Denise Williams, Ruth Newbury‐Ecob, Elias I. Traboulsi, Eduardo Silva, Mukhlis M. Madlom, David Goudie, Brian W. Fleck, Dagmar Wieczorek, Juergen Kohlhase, Alice McTrusty, Carol Gardiner, Christopher Yale, Anthony T. Moore, Isabelle Russell‐Eggitt, Lily Islam, Melissa Lees, Philip L. Beales, Stephen J. Tuft, Juan B. Solano, Miranda Splitt, Jens Michael Hertz, Trine Prescott, Deborah Shears, Ken K. Nischal, Martine Doco‐Fenzy, Fabienne Prieur, I. Karen Temple, Katherine Lachlan, Giuseppe Damante, Danny Morrison, Veronica van Heyningen, David Fitzpatrick - PLoS ONE 2016 被引用: 85
- Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
著者: Kathleen A. Williamson, Hildegard Nikki Hall, Liusaidh J. Owen, Benjamin Livesey, Isabel M. Hanson, Gill Adams, Simon Bodek, Patrick Calvas, Bruce Castle, Michael W. Clarke, Alexander T. Deng, Patrick Edery, Richard Fisher, Gabriele Gillessen‐Kaesbach, Elise Héon, Jane A. Hurst, Dragana Josifova, Birgit Lorenz, Shane McKee, Françoise Meire, Anthony T. Moore, Michael Parker, Charlotte Reiff, Jay Self, Edward S. Tobias, Joke B. Verheij, Marjolaine Willems, Denise Williams, Veronica van Heyningen, Joseph A. Marsh, David Fitzpatrick - Genetics in Medicine 2019 被引用: 63
- Erratum: Mouse Small eye results from mutation in a paired-like homebox-containing gene
著者: Robert E. Hill, Jack Favor, Brigid L.M. Hogan, Carl C.T. Ton, Grady F. Saunders, Isabel M. Hanson, Jane Prosser, Tim Jordan, Nicholas D. Hastie, Veronica van Heyningen - Nature 1992 被引用: 1,274
- The candidate Wilms' tumour gene is involved in genitourinary development
著者: Kathy Pritchard‐Jones, Stewart Fleming, Duncan Davidson, Wendy A. Bickmore, David J. Porteous, Christine Gosden, Jonathan Bard, Alan Buckler, Jerry Pelletier, David E. Housman, Veronica van Heyningen, Nicholas D. Hastie - Nature 1990 被引用: 880
- Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly
著者: Isabel M. Hanson, Judy Fletcher, Tim Jordan, Alison Brown, David Taylor, Rebecca Adams, Hope H. Punnett, Veronica van Heyningen - Nature Genetics 1994 被引用: 495
- doi:https://doi.org/10.1101/sqb.1997.062.01.053
著者: Johan Ericson, James Briscoe, Penny Rashbass, Veronica van Heyningen, Thomas M. Jessell - Cold Spring Harbor Symposia on Quantitative Biology 1997 被引用: 329
- Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations
著者: Nicola Ragge, Alison G. M. Brown, Charlotte M. Poloschek, Birgit Lorenz, Richard A. Henderson, Michael W. Clarke, Isabelle Russell‐Eggitt, Alistair R. Fielder, Dianne Gerrelli, Juan Pedro Martı́nez-Barberá, Piers Ruddle, Jane A. Hurst, J. R. O. Collin, Alison Salt, Simon Timothy Cooper, Pamela J. Thompson, Sanjay M. Sisodiya, Kathleen A. Williamson, David Fitzpatrick, Veronica van Heyningen, Isabel M. Hanson - The American Journal of Human Genetics 2005 被引用: 310
- Role ofPax6in development of the cerebellar system
著者: Dieter Engelkamp, Penny Rashbass, Anne Seawright, Veronica van Heyningen - Development 1999 被引用: 290
- PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans
著者: Sanjay M. Sisodiya, S. L. Free, Kathleen A. Williamson, Tejal N. Mitchell, Catherine Willis, John Stevens, B. E. Kendall, Simon Shorvon, Isabel M. Hanson, Anthony T. Moore, Veronica van Heyningen - Nature Genetics 2001 被引用: 238
