Publications by authors named "Frances Flinter"

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Direct-to-consumer genetic tests also need to be regulated.
Frances A Flinter

BMJ· January 2025

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Correction: The 2019 and 2021 International workshops on Alport syndrome.
Sergio Daga, Jie Ding, Constantinos Deltas, Judy Savige, Beata S Lipska-Ziętkiewicz, Frances Flinter

Eur J Hum Genet· January 2024

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Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.
Constantinos Deltas, Gregory Papagregoriou, Stavroula F Louka, Apostolos Malatras, Frances Flinter

Genes (Basel)· August 2023

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The 2019 and 2021 International Workshops on Alport Syndrome.
Sergio Daga, Jie Ding, Constantinos Deltas, Judy Savige, Beata S Lipska-Ziętkiewicz, Frances Flinter

Eur J Hum Genet· May 2022

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Guidelines for Genetic Testing and Management of Alport Syndrome.
Judy Savige, Beata S Lipska-Zietkiewicz, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, Frances Flinter

Clin J Am Soc Nephrol· January 2022

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

N Engl J Med· November 2021

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Atypical Neurogenesis in Induced Pluripotent Stem Cells From Autistic Individuals.
Dwaipayan Adhya, Vivek Swarup, Roland Nagy, Lucia Dutan, Carole Shum, Frances A Flinter

Biol Psychiatry· March 2021

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Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
Katherine C MacKenzie, Bianca M de Graaf, Andreas Syrimis, Yuying Zhao, Erwin Brosens, Frances Flinter

Hum Mutat· November 2020

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The importance of clinician, patient and researcher collaborations in Alport syndrome.
Michelle N Rheault, Judith Savige, Michael J Randles, André Weinstock, Melissa Stepney, Frances A Flinter

Pediatr Nephrol· May 2020

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A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Sara Cuvertino, Verity Hartill, Alice Colyer, Terence Garner, Nisha Nair, Frances Flinter

Genet Med· May 2020

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Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Sara Cuvertino, Verity Hartill, Alice Colyer, Terence Garner, Nisha Nair, Frances Flinter

Genet Med· May 2020

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DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Sanaa Choufani, William T Gibson, Andrei L Turinsky, Brian H Y Chung, Tianren Wang, Frances Flinter

Am J Hum Genet· May 2020

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Delivering genomic medicine in the United Kingdom National Health Service: a systematic review and narrative synthesis.
Caroline Pearce, Emma Goettke, Nina Hallowell, Pauline McCormack, Frances Flinter

Genet Med· December 2019

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Correction: Delivering genomic medicine in the UK National Health Service: a systematic review and narrative synthesis.
Caroline Pearce, Emma Goettke, Nina Hallowell, Pauline McCormack, Frances Flinter

Genet Med· December 2019

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Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
Judy Savige, Francesca Ariani, Francesca Mari, Mirella Bruttini, Alessandra Renieri, Frances Flinter

Pediatr Nephrol· July 2019

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Germline selection shapes human mitochondrial DNA diversity.
Wei Wei, Salih Tuna, Michael J Keogh, Katherine R Smith, Timothy J Aitman, Frances A Flinter

Science· May 2019

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Pathogenicity and selective constraint on variation near splice sites.
Jenny Lord, Giuseppe Gallone, Patrick J Short, Jeremy F McRae, Holly Ironfield, Frances Flinter

Genome Res· February 2019

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Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
Katrina Tatton-Brown, Sandra Hanks, Elise Ruark, Anna Zachariou, Silvana Del Vecchio Duarte, Frances Flinter

Oncotarget· November 2018

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Corrigendum: Assisted reproductive technologies to prevent human mitochondrial disease transmission.
Andy Greenfield, Peter Braude, Frances Flinter, Robin Lovell-Badge, Caroline Ogilvie

Nat Biotechnol· July 2018

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Genetic testing in intellectual disability psychiatry: Opinions and practices of UK child and intellectual disability psychiatrists.
Kate Wolfe, Kerstin Stueber, Andrew McQuillin, Fatima Jichi, Christine Patch, Frances Flinter

J Appl Res Intellect Disabil· March 2018

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Corrigendum: Assisted reproductive technologies to prevent human mitochondrial disease transmission.
Andy Greenfield, Peter Braude, Frances Flinter, Robin Lovell-Badge, Caroline Ogilvie

Nat Biotechnol· February 2018

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Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.
Francesca Pasutto, Frances Flinter, Anita Rauch, André Reis

Am J Med Genet A· January 2018

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Assisted reproductive technologies to prevent human mitochondrial disease transmission.
Andy Greenfield, Peter Braude, Frances Flinter, Robin Lovell-Badge, Caroline Ogilvie

Nat Biotechnol· November 2017

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De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
Sandra Jansen, Sinje Geuer, Rolph Pfundt, Rachel Brough, Priyanka Ghongane, Frances Flinter

Am J Hum Genet· April 2017

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Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.
Jochem M G Evers, Roman A Laskowski, Marta Bertolli, Jill Clayton-Smith, Charu Deshpande, Frances Flinter

Hum Mol Genet· February 2017

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