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Biology and Biochemistry

D-Index
61
Citations
16169
World Ranking
11217
National Ranking
862

Overview

Frances Flinter is affiliated with Guy's and St Thomas' NHS Foundation Trust in the United Kingdom. Their research spans multiple fields within biochemistry, genetics, molecular biology, and medicine, with a particular focus on genetics and neurodevelopmental disorders, cell adhesion molecules, and renal diseases.

Their main fields of study include biochemistry, genetics and molecular biology, and medicine. Subfields emphasize genetics, molecular biology, immunology and allergy, nephrology, and surgery.

Frances Flinter's work covers several key topics:

  • Cell Adhesion Molecules Research
  • Genetics and Neurodevelopmental Disorders
  • Congenital heart defects research
  • Renal Diseases and Glomerulopathies
  • Coagulation, Bradykinin, Polyphosphates, and Angioedema
  • Genomics and Rare Diseases
  • Mitochondrial Function and Pathology

The scientist has published in multiple venues. Frequent publication venues include:

  • Genetics in Medicine
  • European Journal of Human Genetics
  • bioRxiv (Cold Spring Harbor Laboratory)
  • The American Journal of Human Genetics
  • Biological Psychiatry

Recent papers by Frances Flinter include:

  • DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes, 2020, The American Journal of Human Genetics
  • A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome, 2020, Genetics in Medicine
  • Atypical Neurogenesis in Induced Pluripotent Stem Cells From Autistic Individuals, 2020, Biological Psychiatry
  • The 2019 and 2021 International Workshops on Alport Syndrome, 2022, European Journal of Human Genetics
  • Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN, 2024, Nephrology Dialysis Transplantation

Collaborations are evident in Frances Flinter's frequent co-authors, who have appeared on multiple publications together. These co-authors include:

  • Daniel P. Gale
  • Oliver Groß
  • Rachel Lennon
  • Constantinos Deltas
  • Julia Hoefele

Frances Flinter's research contributions cover a diverse range of molecular and clinical topics, integrating studies in genetics, rare diseases, and neurodevelopmental disorders, reflecting a broad interdisciplinary approach within biomedical science.

Best Publications

  • The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases

    Vetrie D;Vorechovský I;Sideras P;Sideras P;Holland J

  • New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

    P L Beales;N Elcioglu;A S Woolf;D Parker

  • X-linked Alport Syndrome Natural History in 195 Families and Genotype- Phenotype Correlations in Males

    Jean Philippe Jais;Bertrand Knebelmann;Iannis Giatras;Mario De Marchi

  • Evidence for 28 genetic disorders discovered by combining healthcare and research data

    J Kaplanis;K E Samocha;L Wiel;Z Zhang

  • X-Linked Alport Syndrome: Natural History and Genotype-Phenotype Correlations in Girls and Women Belonging to 195 Families: A "European Community Alport Syndrome Concerted Action" study

    Jean Philippe Jais;Bertrand Knebelmann;Iannis Giatras;Mario De Marchi

  • Expert Guidelines for the Management of Alport Syndrome and Thin Basement Membrane Nephropathy

    Judy Savige;Martin Gregory;Oliver Gross;Clifford Kashtan

  • Whole-genome sequencing of patients with rare diseases in a national health system

    Ernest Turro;William J Astle;Karyn Megy;Stefan Graf

  • Preimplantation genetic diagnosis.

    Peter Braude;Susan Pickering;Frances Flinter;Caroline Mackie Ogilvie

  • Genetics of classic Alport's syndrome.

    F A Flinter;J S Cameron;C Chantler;I Houston

  • CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin

    Vanja Karamatic Crew;Nicholas Burton;Alexander Kagan;Carole A. Green

  • Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.

    P L Beales;A M Warner;G A Hitman;R Thakker

  • Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

    Víctor Faundes;Víctor Faundes;William G. Newman;Laura Bernardini;Natalie Canham

  • 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

    Damian Smedley;Katherine R. Smith;Antonio Martin

  • Whole-genome sequencing of a sporadic primary immunodeficiency cohort

    Thaventhiran Jed.;H Lango Allen;O S Burren;W Rae

  • Germline selection shapes human mitochondrial DNA diversity.

    W Wei;S Tuna;M J Keogh;K R Smith

  • Robertsonian translocations—reproductive risks and indications for preimplantation genetic diagnosis

    P.N. Scriven;F.A. Flinter;P. R. Braude;C. Mackie Ogilvie

  • Preimplantation genetic diagnosis

    Frances A Flinter

  • Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

    Morad Ansari;Gemma Poke;Quentin Ferry;Kathleen Williamson

  • Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

    Katrina Tatton-Brown;Sandra Hanks;Elise Ruark;Anna Zachariou

  • Evidence of digenic inheritance in Alport syndrome

    Maria Antonietta Mencarelli;Laurence Heidet;Helen Storey;Michel van Geel

Frequent Co-Authors

Caroline Mackie Ogilvie
Caroline Mackie Ogilvie National Health Service
Jill Clayton-Smith
Jill Clayton-Smith University of Manchester
I. Karen Temple
I. Karen Temple University of Southampton
David R. FitzPatrick
David R. FitzPatrick University of Edinburgh
Helen V. Firth
Helen V. Firth University of Cambridge
Sally Ann Lynch
Sally Ann Lynch University College Dublin
Bronwyn Kerr
Bronwyn Kerr University of Manchester
Adrian S. Woolf
Adrian S. Woolf University of Manchester
Ann Harris
Ann Harris Case Western Reserve University
Corinne Antignac
Corinne Antignac Institut Imagine

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