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Genetics
UK
2024

D-Index & Metrics

Genetics

D-Index
104
Citations
39553
World Ranking
646
National Ranking
97

Medicine

D-Index
104
Citations
39824
World Ranking
7054
National Ranking
688

Research.com Recognitions

  • 2024 - Research.com Genetics in United Kingdom Leader Award
  • 2023 - Research.com Genetics in United Kingdom Leader Award
  • Fellow of The Academy of Medical Sciences, United Kingdom
  • Fellow of The Academy of Medical Sciences, United Kingdom
  • Fellow of The Academy of Medical Sciences, United Kingdom
  • Fellow of The Academy of Medical Sciences, United Kingdom

Overview

Peter J. Scambler is affiliated with University College London in the United Kingdom. Their research focuses primarily on the fields of Medicine and Biochemistry, Genetics and Molecular Biology.

The scientist's work spans various subfields including Molecular Biology, Genetics, Oncology, Pulmonary and Respiratory Medicine, and Pediatrics, Perinatology and Child Health.

Key topics addressed in their research include congenital heart defects, genetic and kidney cyst diseases, lymphatic system and disorders, chemokine receptors and signaling, as well as tracheal and airway disorders.

Frequent coauthors collaborating with Peter J. Scambler consist of Daniyal J. Jafree, David A. Long, Adrian S. Woolf, Sarah Ivins, and Claire Walsh.

The main publication venues for this scientist include bioRxiv (Cold Spring Harbor Laboratory), Cardiovascular Research, Journal of the American Society of Nephrology, Angiogenesis, and Kidney International.

Notable recent papers authored or coauthored by Peter J. Scambler include:

  • Mechanisms and cell lineages in lymphatic vascular development, 2021, Angiogenesis
  • Mutations in CCDC 39 and CCDC 40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms, 2020, UNC Libraries
  • Genetic inactivation of Semaphorin 3C protects mice from acute kidney injury, 2022, Kidney International
  • Dual role for CXCL12 signaling in semilunar valve development, 2021, Cell Reports
  • CHARGE syndrome-associated CHD7 acts at ISL1-regulated enhancers to modulate second heart field gene expression, 2023, Cardiovascular Research

The scientist has been recognized as a Fellow of The Academy of Medical Sciences in the United Kingdom.

Best Publications

  • 22q11.2 deletion syndrome

    Donna M. McDonald-McGinn;Kathleen E. Sullivan;Bruno Marino;Nicole Philip

  • Localization of the gene for familial adenomatous polyposis on chromosome 5.

    W F Bodmer;C J Bailey;J Bodmer;H J Bussey

  • Distinct Factors Control Histone Variant H3.3 Localization at Specific Genomic Regions

    Aaron D. Goldberg;Laura A. Banaszynski;Kyung Min Noh;Peter W. Lewis

  • Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

    A K Ryan;J A Goodship;D I Wilson;N Philip

  • Hyperdynamic Plasticity of Chromatin Proteins in Pluripotent Embryonic Stem Cells

    Eran Meshorer;Dhananjay Yellajoshula;Eric George;Peter J. Scambler

  • Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice

    Elizabeth A. Lindsay;Francesca Vitelli;Hong Su;Masae Morishima

  • TBX1 Is Responsible for Cardiovascular Defects in Velo-Cardio-Facial/DiGeorge Syndrome

    Sandra Merscher;Birgit Funke;Jonathan A. Epstein;Joerg Heyer

  • The gene for familial polyposis coli maps to the long arm of chromosome 5.

    M. Leppert;M. Dobbs;P. Scambler;P. O'Connell

  • Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

    Nicholas Katsanis;Stephen J. Ansley;Jose L. Badano;Erica R. Eichers

  • DiGeorge syndrome: part of CATCH 22.

    D I Wilson;J Burn;P Scambler;J Goodship

  • Localization of cystic fibrosis locus to human chromosome 7cen–q22

    Brandon J. Wainwright;Peter J. Scambler;Jorg Schmidtke;Eila A. Watson

  • The 22q11 deletion syndromes

    Peter J. Scambler

  • A new nomenclature for int-1 and related genes: The Wnt gene family

    R Nusse;A Brown;J Papkoff;P Scambler

  • Velo‐cardio‐facial syndrome: A review of 120 patients

    Rosalie Goldberg;Beth Motzkin;Robert Marion;Robert Marion;Peter J. Scambler

  • Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

    P.J Scambler;D Kelly;E Lindsay;R Williamson

  • The UK10K project identifies rare variants in health and disease

    Klaudia Walter;Josine L. Min;Jie Huang;Lucy Crooks

  • Frasier Syndrome is Caused by Defective Alternative Splicing of WT1 Leading to an Altered Ratio of WT1 +/−KTS Splice Isoforms

    Barbara Klamt;Ania Koziell;Francis Poulat;Peter Wieacker

  • Molecular Definition of 22q11 Deletions in 151 Velo-Cardio-Facial Syndrome Patients

    C. Carlson;H. Sirotkin;R. Pandita;R. Goldberg;R. Goldberg

  • A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands

    Xavier Estivill;Martin Farrall;Peter J. Scambler;Gillian M. Bell

  • Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

    N Katsanis;SJ Ansley;JL Badano;ER Eichers

Frequent Co-Authors

Antonio Baldini
Antonio Baldini University of Naples Federico II
Hannah M. Mitchison
Hannah M. Mitchison University College London
John Burn
John Burn Newcastle University
Philip L. Beales
Philip L. Beales University College London
Robin M. Winter
Robin M. Winter Northwick Park Hospital
Judith A. Goodship
Judith A. Goodship Newcastle University
Bernice E. Morrow
Bernice E. Morrow Albert Einstein College of Medicine
Adrian S. Woolf
Adrian S. Woolf University of Manchester
Hülya Kayserili
Hülya Kayserili Koç University
Robert Williamson
Robert Williamson University of Melbourne

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