Peter Scambler

Citado por

	Total	Desde 2019
Citas	36640	7371
Índice h	99	43
Índice i10	236	127

1600

800

400

1200

198619871988198919901991199219931994199519961997199819992000200120022003200420052006200720082009201020112012201320142015201620172018201920202021202220232024167 252 408 450 467 392 313 346 316 433 640 674 654 772 711 904 913 864 951 1065 1079 1106 1103 973 1234 1179 1408 1515 1557 1520 1504 1444 1471 1293 1471 1547 1443 1291 324

Acceso público

Ver todo

79 artículos

8 artículos

disponibles

no disponibles

Basado en requisitos de financiación

Coautores

John BurnProfessor of Clinical GeneticsDirección de correo verificada de ncl.ac.uk
Antonio BaldiniDepartment of Molecular Medicine and Medical Biotech., University Federico II, Naples, ItalyDirección de correo verificada de unina.it
Philip BealesProfessor of Genetics, University College LondonDirección de correo verificada de ucl.ac.uk
Stephanie HalfordUniversity of OxfordDirección de correo verificada de eye.ox.ac.uk
Bernice MorrowProfessor of GeneticsDirección de correo verificada de einstein.yu.edu
Xavier Estivill MD PhDqGenomics (Quantitative Genomics Laboratories)Dirección de correo verificada de qgenomics.com
Nicholas LenchHonorary Reader Human Molecular Genetics, University College LondonDirección de correo verificada de ucl.ac.uk
Mark LythgoeProfessor of Biomedical Imaging, University College LondonDirección de correo verificada de ucl.ac.uk
Anthony Wynshaw-BorisCWRU School of MedicineDirección de correo verificada de case.edu
Stanier PUCL Institute of Child HealthDirección de correo verificada de ucl.ac.uk
James LupskiBaylor College of MedicineDirección de correo verificada de bcm.edu
Gillian BatesProfessor of Molecular Neuroscience, UCLDirección de correo verificada de ucl.ac.uk
Jon Cleary, MBBS-PhD FRCRConsultant Neuroradiologist, Guy's and St. Thomas' Hospitals and King's College LondonDirección de correo verificada de kcl.ac.uk
Miriam SchmidtsDirección de correo verificada de uniklinik-freiburg.de
Amelie .CalmontResearch fellow INSERMDirección de correo verificada de inserm.fr
Nicholas KatsanisGalatea BioDirección de correo verificada de galatea.bio
Hannah MitchisonUniversity College LondonDirección de correo verificada de ucl.ac.uk
Giuseppe NovelliProfessore di Genetica Medica, Università di Roma Tor VergataDirección de correo verificada de med.uniroma2.it
Beverly S. EmanuelUniversity of PennsylvaniaDirección de correo verificada de mail.med.upenn.edu
Jose L BadanoHead Human Molecular Genetics Laboratory, Institut Pasteur de MontevideoDirección de correo verificada de pasteur.edu.uy

Seguir

Peter Scambler

Emeritus Professor of Molecular Medicine

Dirección de correo verificada de ich.ucl.ac.uk

genetics human birth defect development


Título Ordenar por citas Ordenar por año Ordenar por título	Citado por Citado por	Año
Localization of the gene for familial adenomatous polyposis on chromosome 5 WF Bodmer, CJ Bailey, J Bodmer, HJR Bussey, A Ellis, P Gorman, ... Nature 328 (6131), 614-616, 1987	1903	1987
Distinct factors control histone variant H3. 3 localization at specific genomic regions AD Goldberg, LA Banaszynski, KM Noh, PW Lewis, SJ Elsaesser, ... Cell 140 (5), 678-691, 2010	1367	2010
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. AK Ryan, JA Goodship, DI Wilson, N Philip, A Levy, H Seidel, ... Journal of medical genetics 34 (10), 798-804, 1997	1307	1997
22q11. 2 deletion syndrome DM McDonald-McGinn, KE Sullivan, B Marino, N Philip, A Swillen, ... Nature reviews Disease primers 1 (1), 1-19, 2015	1258	2015
Hyperdynamic plasticity of chromatin proteins in pluripotent embryonic stem cells E Meshorer, D Yellajoshula, E George, PJ Scambler, DT Brown, T Misteli Developmental cell 10 (1), 105-116, 2006	1177	2006
Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice EA Lindsay, F Vitelli, H Su, M Morishima, T Huynh, T Pramparo, V Jurecic, ... Nature 410 (6824), 97-101, 2001	1111	2001
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome S Merscher, B Funke, JA Epstein, J Heyer, A Puech, MM Lu, RJ Xavier, ... Cell 104 (4), 619-629, 2001	1066	2001
The gene for familial polyposis coli maps to the long arm of chromosome 5 M Leppert, M Dobbs, P Scambler, P O'connell, Y Nakamura, D Stauffer, ... Science 238 (4832), 1411-1413, 1987	837	1987
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder N Katsanis, SJ Ansley, JL Badano, ER Eichers, RA Lewis, BE Hoskins, ... Science 293 (5538), 2256-2259, 2001	736	2001
DiGeorge syndrome: part of CATCH 22. DI Wilson, J Burn, P Scambler, J Goodship Journal of medical genetics 30 (10), 852-856, 1993	663	1993
Localization of cystic fibrosis locus to human chromosome 7cen–q22 BJ Wainwright, PJ Scambler, J Schmidtke, EA Watson, HY Law, M Farrall, ... Nature 318 (6044), 384-385, 1985	628	1985
The 22q11 deletion syndromes PJ Scambler Human molecular genetics 9 (16), 2421-2426, 2000	601	2000
Velo‐cardio‐facial syndrome: A review of 120 patients R Goldberg, B Motzkin, R Marion, PJ Scambler, RJ Shprintzen American journal of medical genetics 45 (3), 313-319, 1993	513	1993
Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus PJ Scambler, D Kelly, E Lindsay, R Williamson, R Goldberg, R Shprintzen, ... The Lancet 339 (8802), 1138-1139, 1992	505	1992
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1+/− KTS splice isoforms B Klamt, A Koziell, F Poulat, P Wieacker, P Scambler, P Berta, M Gessler Human molecular genetics 7 (4), 709-714, 1998	441	1998
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients C Carlson, H Sirotkin, R Pandita, R Goldberg, J McKie, R Wadey, ... The American Journal of Human Genetics 61 (3), 620-629, 1997	423	1997
A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands X Estivill, M Farrall, PJ Scambler, GM Bell, KMF Hawley, NJ Lench, ... Nature 326 (6116), 840-845, 1987	411	1987
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum EE Davis, Q Zhang, Q Liu, BH Diplas, LM Davey, J Hartley, C Stoetzel, ... Nature genetics 43 (3), 189-196, 2011	408	2011
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel J Huang, B Howie, S McCarthy, Y Memari, K Walter, JL Min, P Danecek, ... Nature communications 6 (1), 8111, 2015	399	2015
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis DJ Shears, HJ Vassal, FR Goodman, RW Palmer, W Reardon, ... Nature genetics 19 (1), 70-73, 1998	377	1998

El sistema no puede realizar la operación en estos momentos. Inténtalo de nuevo más tarde.

Artículos 1–20

Citas por año

Citas duplicadas

Citas combinadas

Añadir coautoresCoautores

Seguir

Citado por

Coautores