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Author Details

Frances Flinter
Guys' and St Thomas' NHS Foundation Trust
1986
121
41
PMIDPaper TitleJournal TitlePublished Year
36690832Correction: The 2019 and 2021 International workshops on Alport syndrome.Eur J Hum Genet2024
35260866The 2019 and 2021 International Workshops on Alport Syndrome.Eur J Hum Genet2022
34930753Guidelines for Genetic Testing and Management of Alport Syndrome.Clin J Am Soc Nephrol2022
32826066Atypical Neurogenesis in Induced Pluripotent Stem Cells From Autistic Individuals.Biol Psychiatry2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
32203228Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.Genet Med2020
31949313A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.Genet Med2020
32939943Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.Hum Mutat2020
31235794Correction: Delivering genomic medicine in the UK National Health Service: a systematic review and narrative synthesis.Genet Med2019
29987460Expert consensus guidelines for the genetic diagnosis of Alport syndrome.Pediatr Nephrol2019
31186523Delivering genomic medicine in the United Kingdom National Health Service: a systematic review and narrative synthesis.Genet Med2019
28833975Genetic testing in intellectual disability psychiatry: Opinions and practices of UK child and intellectual disability psychiatrists.J Appl Res Intellect Disabil2018
29979654Corrigendum: Assisted reproductive technologies to prevent human mitochondrial disease transmission.Nat Biotechnol2018
30613354Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.Oncotarget2018
29406506Corrigendum: Assisted reproductive technologies to prevent human mitochondrial disease transmission.Nat Biotechnol2018
29168296Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.Am J Med Genet A2018
27190345Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.Nephrol Dial Transplant2017
28343630De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.Am J Hum Genet2017
29121011Assisted reproductive technologies to prevent human mitochondrial disease transmission.Nat Biotechnol2017
28053047Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.Hum Mol Genet2017
27722995Training Genetic Counsellors to Deliver an Innovative Therapeutic Intervention: their Views and Experience of Facilitating Multi-Family Discussion Groups.J Genet Couns2017
27073233Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.J Med Genet2016
26443265Developing an intervention to facilitate family communication about inherited genetic conditions, and training genetic counsellors in its delivery.Eur J Hum Genet2016
27667800Clinical and genetic aspects of KBG syndrome.Am J Med Genet A2016
27627812X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.PLoS One2016
27650969Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.Eur J Hum Genet2016
27300315Ulk4 Regulates Neural Stem Cell Pool.Stem Cells2016
27287265Alport Syndrome in Women and Girls.Clin J Am Soc Nephrol2016
25109415The genetic diversity of cystinuria in a UK population of patients.BJU Int2015
25846562Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy.Am J Med Genet A2015
25739341Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.Pediatr Nephrol2015
25575550Evidence of digenic inheritance in Alport syndrome.J Med Genet2015
25388007Clinical utility gene card for: Alport syndrome - update 2014.Eur J Hum Genet2015
25307543Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.Clin Genet2015
23720012DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.Pediatr Nephrol2014
24988067The 2014International Workshop on Alport Syndrome.Kidney Int2014
25125236Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.J Med Genet2014
24912416Concerning Tetsuya Ishii's article: potential impact of human mitochondrial replacement on global policy regarding germline gene modification.Reprod Biomed Online2014
24715682Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: further delineation of an emerging syndrome.Am J Med Genet A2014
24728446Familial haematuria: when to consider genetic testing.Arch Dis Child2014
24337245A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations.Pediatr Nephrol2014
24178893Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.Pediatr Nephrol2014
23349312Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy.J Am Soc Nephrol2013
24052634COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.J Am Soc Nephrol2013
24214728Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.Am J Med Genet A2013
23694690Should we sequence everyone's genome? No.BMJ2013
23707654The internet is parents' main source of information about psychiatric manifestations of 22q11.2 deletion syndrome (22q11.2DS).Eur J Med Genet2013
23386032Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study.Eur J Hum Genet2013
22180640A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.J Med Genet2012
22933740Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.Neurology2012
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Collaborators

David Vetrie
Co-authored papers 11
Alessandra Renieri
University of Siena
Co-authored papers 8
Siddharth Banka
University of Manchester
Co-authored papers 6
Sally Ann Lynch
University College Dublin
Co-authored papers 5
Adrian S Woolf
The University of Manchester
Co-authored papers 5
Jiannis Ragoussis
McGill University
Co-authored papers 5
Christine Patch
Queen Mary University of London, United Kingdom Society and Ethics Research
Co-authored papers 5
Philip L Beales
UCL Great Ormond Street Institute of Child Health, University College London
Co-authored papers 4
Francesca Mari
Institute de Pathologie et de Genetique ASBL
Co-authored papers 4
Sian Ellard
Royal Devon University Healthcare NHS Foundation Trust
Co-authored papers 4
Jill Clayton-Smith
Institute of Human Development, University of Manchester
Co-authored papers 4
Isabel K Temple
University of Southampton
Co-authored papers 4
Charu Deshpande
Guy's Hospital
Co-authored papers 4
Dragana Josifova
Guy's and St Thomas' Hospital
Co-authored papers 3
Carol L Clericuzio
University of New Mexico Health Sciences Center
Co-authored papers 3
David R FitzPatrick
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Co-authored papers 3
Ghazala Mirza
Co-authored papers 3
Andy Greenfield
MRC Harwell Institute
Co-authored papers 3
Melita Irving
Guy's and St Thomas' NHS Foundation Trust, Evelina Children's Hospital
Co-authored papers 3
Shehla Mohammed
Guy's and St Thomas' NHS Foundation Trust
Co-authored papers 3
Hubert J M Smeets
Maastricht University Medical Centre+
Co-authored papers 3
Robin Lovell-Badge
The Francis Crick Institute
Co-authored papers 3
Lyn S Chitty
UCL Institute of Child Health and Great Ormond Street NHS Foundation Trust
Co-authored papers 2
Caroline F Wright
University of Exeter, Royal Devon and Exeter Hospital
Co-authored papers 2
Jane A Hurst
Great Ormond Street Hospital NHS Foundation Trust
Co-authored papers 2
Shamima Rahman
UCL Great Ormond Street Institute of Child Health
Co-authored papers 2
Colin A Johnson
University of Leeds Leeds Institute of Medical Research at St James's
Co-authored papers 2
Deborah Ruddy
Guys and St Thomas' Hospital
Co-authored papers 2
Sarju G Mehta
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Release 1.2