Publications by authors named "Ryan Gavin"

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Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.
Johnny Bou-Rouphael, Auriane Cospain, Thomas Courtin, Boris Keren, Corentine Marie, Ryan Gavin

Am J Hum Genet· November 2025

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Whole-Genome Resequencing of the Wild Barley Diversity Collection: A Resource for Identifying and Exploiting Genetic Variation for Cultivated Barley Improvement.
Rebecca Spanner, Ahmad H Sallam, Yu Guo, Murukarthick Jayakodi, Axel Himmelbach, Ryan Gavin

G3 (Bethesda)· November 2025

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Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project.
Verity Hartill, Mitra Kabir, Sunayna Best, Wasay Mohiuddin Shaikh Qureshi, Stephanie L Baross, Gavin Ryan

Eur J Hum Genet· June 2025

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ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Lucia Laugwitz, Fubo Cheng, Stephan C Collins, Alexander Hustinx, Nicolas Navarro, Ryan Gavin

Brain· July 2024

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The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Alistair T Pagnamenta, Jing Yu, Susan Walker, Alexandra J Noble, Jenny Lord, Gavin Ryan

Am J Hum Genet· June 2024

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Gene-Related Neurodevelopmental Disorder: A Differential Diagnosis for Rett/Angelman-Type Spectrum of Disorders.
Danielle Bogue, Gavin Ryan, Evangeline Wassmer, Genomics England Research Consortium, Swati Naik

Mol Syndromol· October 2023

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Prenatal diagnosis of CLCN4-related neurodevelopmental disorder in fetuses with congenital brain anomalies.
Zena Lam, Elizabeth Wall, Gavin Ryan, Richard Barber, Mark D Kilby

Prenat Diagn· August 2023

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Clinical, genetic, epidemiologic, evolutionary, and functional delineation of -related autosomal recessive ectodermal dysplasia 14.
Adam Jackson, Sheng-Jia Lin, Elizabeth A Jones, Kate E Chandler, David Orr, Gavin Ryan

HGG Adv· April 2023

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Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.
Adam Jackson, Celia Moss, Kate E Chandler, Pablo Lopez Balboa, Maria L Bageta, Gavin Ryan

Br J Dermatol· January 2023

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Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder.
Ji Hoon Han, Gavin Ryan, Alyson Guy, Lu Liu, Mathieu Quinodoz

Hum Mol Genet· June 2022

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Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.
Alison Foster, Basile Chalot, Thalia Antoniadi, Elise Schaefer, Rebecca Keelagher, Gavin Ryan

Clin Genet· July 2020

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A resilient and luminescent stimuli-responsive hydrogel from a heterotopic 1,8-naphthalimide-derived ligand.
Chris S Hawes, Amy D Lynes, Kevin Byrne, Wolfgang Schmitt, Gavin Ryan

Chem Commun (Camb)· May 2017

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Sensitive electromechanical sensors using viscoelastic graphene-polymer nanocomposites.
Conor S Boland, Umar Khan, Gavin Ryan, Sebastian Barwich, Romina Charifou

Science· December 2016

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Self-assembly formation of a healable lanthanide luminescent supramolecular metallogel from 2,6-bis(1,2,3-triazol-4-yl)pyridine (btp) ligands.
Eoin P McCarney, Joseph P Byrne, Brendan Twamley, Miguel Martínez-Calvo, Gavin Ryan

Chem Commun (Camb)· September 2015

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Presence of multiple lesion types with vastly different microenvironments in C3HeB/FeJ mice following aerosol infection with Mycobacterium tuberculosis.
Scott M Irwin, Emily Driver, Edward Lyon, Christopher Schrupp, Gavin Ryan

Dis Model Mech· June 2015

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Isolation and purification of Mycobacterium tuberculosis from H37Rv infected guinea pig lungs.
Libin Shi, Gavin J Ryan, Suresh Bhamidi, JoLynn Troudt, Anita Amin

Tuberculosis (Edinb)· September 2014

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Improving acid-fast fluorescent staining for the detection of mycobacteria using a new nucleic acid staining approach.
Gavin J Ryan, Howard M Shapiro, Anne J Lenaerts

Tuberculosis (Edinb)· September 2014

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The PTTG1-binding factor (PBF/PTTG1IP) regulates p53 activity in thyroid cells.
Martin L Read, Robert I Seed, Jim C W Fong, Bhavika Modasia, Gavin A Ryan

Endocrinology· April 2014

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Regulation of pituitary tumor transforming gene (PTTG) expression and phosphorylation in thyroid cells.
Gregory D Lewy, Gavin A Ryan, Martin L Read, Jim C W Fong, Vikki Poole

Endocrinology· November 2013

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Evaluation of a mouse model of necrotic granuloma formation using C3HeB/FeJ mice for testing of drugs against Mycobacterium tuberculosis.
Emily R Driver, Gavin J Ryan, Donald R Hoff, Scott M Irwin, Randall J Basaraba

Antimicrob Agents Chemother· June 2012

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Glycolytic and non-glycolytic functions of Mycobacterium tuberculosis fructose-1,6-bisphosphate aldolase, an essential enzyme produced by replicating and non-replicating bacilli.
Maria de la Paz Santangelo, Petra M Gest, Marcelo E Guerin, Mathieu Coinçon, Ha Pham, Gavin Ryan

J Biol Chem· November 2011

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Lipoarabinomannan localization and abundance during growth of Mycobacterium smegmatis.
Rakesh K Dhiman, Premkumar Dinadayala, Gavin J Ryan, Anne J Lenaerts, Alan R Schenkel

J Bacteriol· October 2011

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Location of intra- and extracellular M. tuberculosis populations in lungs of mice and guinea pigs during disease progression and after drug treatment.
Donald R Hoff, Gavin J Ryan, Emily R Driver, Cornelius C Ssemakulu, Mary A De Groote

PLoS One· March 2011

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Multiple M. tuberculosis phenotypes in mouse and guinea pig lung tissue revealed by a dual-staining approach.
Gavin J Ryan, Donald R Hoff, Emily R Driver, Martin I Voskuil, Mercedes Gonzalez-Juarrero

PLoS One· June 2010

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Sirolimus and cyclosporine A alter barrier function in renal proximal tubular cells through stimulation of ERK1/2 signaling and claudin-1 expression.
Natalia Martin-Martin, Gavin Ryan, Tara McMorrow, Michael P Ryan

Am J Physiol Renal Physiol· March 2010

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