Publications by authors named "Peter D Turnpenny"

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The European Certificate in Medical Genetics and Genomics (ECMGG).
Peter D Turnpenny, Laura Pölsler, Ute Moog, Edward S Tobias, Angela Peron

Eur J Hum Genet· September 2025

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European training requirements for the specialty of medical genetics.
Ute Moog, Jonathan Berg, Siobhan Kerr, Peter D Turnpenny, Alain Verloes

Eur J Hum Genet· September 2025

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Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.
Karim Karimi, Yael Lichtenstein, Jack Reilly, Haley McConkey, Raissa Relator, Peter D Turnpenny

Am J Hum Genet· February 2025

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SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
James Fasham, Antje K Huebner, Lutz Liebmann, Reham Khalaf-Nazzal, Reza Maroofian, Peter D Turnpenny

Brain· November 2023

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Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.
Francis Ramond, Caroline Dalgliesh, Mona Grimmel, Oded Wechsberg, Annalisa Vetro, Peter D Turnpenny

Genet Med· April 2023

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Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Reham Khalaf-Nazzal, James Fasham, Katherine A Inskeep, Lauren E Blizzard, Joseph S Leslie, Peter D Turnpenny

Am J Hum Genet· November 2022

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Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Amy Hardcastle, Aliska M Berry, Ian M Campbell, Xiaonan Zhao, Pengfei Liu, Peter D Turnpenny

Am J Med Genet A· October 2022

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The Phenotypic Continuum of -Related Disorders.
Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A Brownstein, Peter D Turnpenny

Neurology· October 2022

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Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.
Guillaume Jouret, Solveig Heide, Arthur Sorlin, Laurence Faivre, Sandra Chantot-Bastaraud, Peter D Turnpenny

Clin Genet· August 2022

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Further delineation of phenotypic spectrum of SCN2A-related disorder.
Ruth Richardson, Diana Baralle, Christopher Bennett, Tracy Briggs, Emilia K Bijlsma, Peter D Turnpenny

Am J Med Genet A· March 2022

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Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.
Claire Forde, Emma Burkitt-Wright, Peter D Turnpenny, Eric Haan, John Ealing

Eur J Hum Genet· March 2022

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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Marjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, Adam Jackson, Reshmi Ramakrishnan, Peter D Turnpenny

Genet Med· November 2021

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Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.
Siying Lin, James Fasham, Fida' Al-Hijawi, Nouar Qutob, Adam Gunning, Peter D Turnpenny

Eur J Hum Genet· October 2021

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Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
Rebecca L Poole, Philippa D K Curry, Ruta Marcinkute, Carole Brewer, David Coman, Peter D Turnpenny

Am J Med Genet A· August 2021

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Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Holly K Harris, Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Peter D Turnpenny

Genet Med· June 2021

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Final Exon Frameshift Biallelic Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia.
Reham Khalaf-Nazzal, James Fasham, Nishanka Ubeyratna, David J Evans, Joseph S Leslie, Peter D Turnpenny

Brain Sci· May 2021

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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, Michael A Levy, Andrés Hernández-García, Peter D Turnpenny

Am J Hum Genet· March 2021

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Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis.
Alexandra J Childs, David C Mabin, Peter D Turnpenny

Am J Med Genet A· August 2020

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Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.
Anna Durkin, Shadi Albaba, Andrew E Fry, Jenny E Morton, Andrew Douglas, Peter D Turnpenny

Am J Med Genet A· July 2020

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Amniotic band sequence in paternal half-siblings with vascular Ehlers-Danlos syndrome.
Mary B Callaghan, Rob Hadden, Jon S King, Katherine Lachlan, Fleur S van Dijk, Peter D Turnpenny

Am J Med Genet A· March 2020

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Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Alistair T Pagnamenta, Pamela J Kaisaki, Fenella Bennett, Emma Burkitt-Wright, Hilary C Martin, Peter D Turnpenny

Clin Genet· June 2019

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Quantifying the contribution of recessive coding variation to developmental disorders.
Hilary C Martin, Wendy D Jones, Rebecca McIntyre, Gabriela Sanchez-Andrade, Mark Sanderson, Peter D Turnpenny

Science· December 2018

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Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
Peter D Turnpenny, Michael J Wright, Melissa Sloman, Richard Caswell, Anthony J van Essen

Am J Hum Genet· December 2018

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Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
Peter D Turnpenny, Michael J Wright, Melissa Sloman, Richard Caswell, Anthony J van Essen

Am J Hum Genet· November 2018

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