Peter Scambler

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John BurnProfessor of Clinical GeneticsPreverjeni e-poštni naslov na ncl.ac.uk
Antonio BaldiniDepartment of Molecular Medicine and Medical Biotech., University Federico II, Naples, ItalyPreverjeni e-poštni naslov na unina.it
Philip BealesProfessor of Genetics, University College LondonPreverjeni e-poštni naslov na ucl.ac.uk
Bernice MorrowProfessor of GeneticsPreverjeni e-poštni naslov na einstein.yu.edu
Stephanie HalfordUniversity of OxfordPreverjeni e-poštni naslov na eye.ox.ac.uk
Xavier Estivill MD PhDqGenomics (Quantitative Genomics Laboratories)Preverjeni e-poštni naslov na qgenomics.com
Nicholas LenchHonorary Reader Human Molecular Genetics, University College LondonPreverjeni e-poštni naslov na ucl.ac.uk
Mark LythgoeProfessor of Biomedical Imaging, University College LondonPreverjeni e-poštni naslov na ucl.ac.uk
Eila WatsonOxford Brookes UniversityPreverjeni e-poštni naslov na brookes.ac.uk
Raju KucherlapatiHarvard UniversityPreverjeni e-poštni naslov na partners.org
Anthony Wynshaw-BorisCWRU School of MedicinePreverjeni e-poštni naslov na case.edu
Stanier PUCL Institute of Child HealthPreverjeni e-poštni naslov na ucl.ac.uk
Beverly S. EmanuelUniversity of PennsylvaniaPreverjeni e-poštni naslov na mail.med.upenn.edu
James LupskiBaylor College of MedicinePreverjeni e-poštni naslov na bcm.edu
Jon Cleary, MBBS-PhD FRCRConsultant Neuroradiologist, Guy's and St. Thomas' Hospitals and King's College LondonPreverjeni e-poštni naslov na kcl.ac.uk
Miriam SchmidtsPreverjeni e-poštni naslov na uniklinik-freiburg.de
Gillian BatesProfessor of Molecular Neuroscience, UCLPreverjeni e-poštni naslov na ucl.ac.uk
Amelie .CalmontResearch fellow INSERMPreverjeni e-poštni naslov na inserm.fr
Nicholas KatsanisGalatea BioPreverjeni e-poštni naslov na galatea.bio
Hannah MitchisonUniversity College LondonPreverjeni e-poštni naslov na ucl.ac.uk

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Peter Scambler

Emeritus Professor of Molecular Medicine

Preverjeni e-poštni naslov na ich.ucl.ac.uk

genetics human birth defect development


Naslov Razvrsti po navedbah Razvrsti po letniku Razvrsti po naslovu	Navedeno Navedeno	Leto
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	1909	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	1450	2010
22q11. 2 deletion syndrome DM McDonald-McGinn, KE Sullivan, B Marino, N Philip, A Swillen, ... Nature reviews Disease primers 1 (1), 1-19, 2015	1434	2015
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	1331	1997
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	1204	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	1150	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	1110	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	843	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	751	2001
DiGeorge syndrome: part of CATCH 22. DI Wilson, J Burn, P Scambler, J Goodship Journal of Medical Genetics 30 (10), 852-856, 1993	657	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	630	1985
The 22q11 deletion syndromes PJ Scambler Human molecular genetics 9 (16), 2421-2426, 2000	610	2000
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	511	1992
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	510	1993
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	458	1998
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	445	2015
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	428	1997
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	421	2011
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	405	1987
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	381	1998

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