Publications by authors named "David A Parry"

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Lymphoid B cells upregulate HIV-1 ex vivo and are linked to its expression in vivo.
Matthew T Ollerton, Joy M Folkvord, Veronica Bush, David A Parry, Amie L Meditz

PLoS Pathog· December 2025

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Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.
Sankalita Ray Das, Rosie Sullivan, Mischa S G Ruegg, Julia Horsfield, Jordan Doran, David A Parry

Am J Hum Genet· July 2025

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loss-of-function mutations cause microcephaly and short stature.
Aitana Verdu Schlie, Andrea Leitch, Maria Izabel Arismendi, Colin Stok, Andrea Castro Leal, David A Parry

Genes Dev· May 2025

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Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Carol-Anne Martin, Kata Sarlós, Clare V Logan, Roshan Singh Thakur, David A Parry

Am J Hum Genet· May 2024

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Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, Fraser McPhie, Jacob R Anderson, David A Parry

Science· April 2024

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Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.
Anthony M Vandersteen, Ruwan A Weerakkody, David A Parry, Christina Kanonidou, Daniel J Toddie-Moore

J Med Genet· February 2024

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Follicular regulatory T cells eliminate HIV-1-infected follicular helper T cells in an IL-2 concentration dependent manner.
Matthew T Ollerton, Joy M Folkvord, Andriana La Mantia, David A Parry, Amie L Meditz

Front Immunol· November 2022

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Novel mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.
Evangelia S Panagiotou, Narcis Fernandez-Fuentes, Layal Abi Farraj, Martin McKibbin, Nursel H Elçioglu, David A Parry

Mol Vis· June 2022

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Publisher Correction: Signatures of TOP1 transcription-associated mutagenesis in cancer and germline.
Martin A M Reijns, David A Parry, Thomas C Williams, Ferran Nadeu, Rebecca L Hindshaw

Nature· May 2022

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Loss of Integrin-Linked Kinase Sensitizes Breast Cancer to SRC Inhibitors.
Henry Beetham, Billie G C Griffith, Olga Murina, Alexander E P Loftus, David A Parry

Cancer Res· February 2022

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Signatures of TOP1 transcription-associated mutagenesis in cancer and germline.
Martin A M Reijns, David A Parry, Thomas C Williams, Ferran Nadeu, Rebecca L Hindshaw

Nature· February 2022

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Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease.
Angela L Duker, Dagmar Kinderman, Christy Jordan, Tim Niiler, Carissa M Baker-Smith, David A Parry

Orphanet J Rare Dis· May 2021

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Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.
David A Parry, Carol-Anne Martin, Philip Greene, Joseph A Marsh,

Genet Med· February 2021

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Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
Guoliang Chai, Alice Webb, Chen Li, Danny Antaki, Sangmoon Lee, David A Parry

Neuron· January 2021

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A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection.
Martin A M Reijns, Louise Thompson, Juan Carlos Acosta, Holly A Black, Francisco J Sanchez-Luque, David A Parry

PLoS Biol· December 2020

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PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.
David A Parry, Lukas Tamayo-Orrego, Paula Carroll, Joseph A Marsh, Philip Greene

Genes Dev· November 2020

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Biallelic variants in DNA2 cause microcephalic primordial dwarfism.
Žygimantė Tarnauskaitė, Louise S Bicknell, Joseph A Marsh, Jennie E Murray, David A Parry

Hum Mutat· August 2019

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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Lindsay C Burrage, John J Reynolds, Nissan Vida Baratang, Jennifer B Phillips, Jeremy Wegner, David A Parry

Am J Hum Genet· March 2019

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Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.
Patricia Heyn, Clare V Logan, Adeline Fluteau, Rachel C Challis, Tatsiana Auchynnikava, David A Parry

Nat Genet· January 2019

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DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Clare V Logan, Jennie E Murray, David A Parry, Andrea Robertson, Roberto Bellelli

Am J Hum Genet· December 2018

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Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.
Ruwan Weerakkody, David Ross, David A Parry, Bulat Ziganshin, Jana Vandrovcova

Genet Med· November 2018

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A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Carlos R Ferreira, Zhi-Jie Xia, Aurélie Clément, David A Parry, Mariska Davids

Am J Hum Genet· October 2018

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Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Carol-Anne Martin, Kata Sarlós, Clare V Logan, Roshan Singh Thakur, David A Parry

Am J Hum Genet· September 2018

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Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Carol-Anne Martin, Kata Sarlós, Clare V Logan, Roshan Singh Thakur, David A Parry

Am J Hum Genet· August 2018

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Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
Thi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, Sophie Ehresmann, Justine Rousseau, David A Parry

Am J Hum Genet· November 2017

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