Publications by authors named "Darren Fowler"

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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, Darren Fowler

Am J Hum Genet· June 2024

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High resolution diffusion imaging in the unfixed post-mortem infant brain at 7T.
Wenchuan Wu, Sebastian W Rieger, Luke Baxter, Eleri Adams, Jesper Lr Andersson, Darren Fowler

Imaging Neurosci (Camb)· January 2024

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Pulmonary Cystic Echinococcosis in a Child Presenting in the United Kingdom with Fever and Chest Pain: A Brief Report and Discussion on Management.
Emily A Lees, Andrew Ives, Darren Fowler, Kokila Lakhoo, David Grant

Pediatr Infect Dis J· September 2023

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Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma.
Carsten G Bönnemann, Kalpathy S Krishnamoorthy, Jennifer J Johnston, Mary M Lee, Darren J Fowler

Am J Med Genet A· September 2023

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Cervical lymph nodes and ovarian teratomas as germinal centres in NMDA receptor-antibody encephalitis.
Adam Al-Diwani, Jakob Theorell, Valentina Damato, Joshua Bull, Nicholas McGlashan, Darren Fowler

Brain· August 2022

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UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
Rémi Duclaux-Loras, Corinne Lebreton, Jérémy Berthelet, Fabienne Charbit-Henrion, Ophelie Nicolle, Darren Fowler

J Clin Invest· May 2022

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Spatiotemporal analysis of human intestinal development at single-cell resolution.
David Fawkner-Corbett, Agne Antanaviciute, Kaushal Parikh, Marta Jagielowicz, Ana Sousa Gerós, Darren Fowler

Cell· February 2021

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A rare presentation of a paediatric sinonasal inverted papilloma.
Nimeshi Jayakody, Matthew Ward, Giri Wijayasingham, Darren Fowler, Philip Harries

J Surg Case Rep· November 2018

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N-methyl-D-aspartate receptor antibody production from germinal center reactions: Therapeutic implications.
Mateusz Makuch, Robert Wilson, Adam Al-Diwani, James Varley, Anne-Kathrin Kienzler, Darren Fowler

Ann Neurol· March 2018

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Postmortem Genetic Testing for Cardiac Ion Channelopathies in Stillbirths.
Patricia B Munroe, Shea Addison, Dominic J Abrams, Neil J Sebire, James Cartwright, Darren J Fowler

Circ Genom Precis Med· January 2018

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Antenatally Detected Congenital Pulmonary Airway Malformations: The Oxford Experience.
Hemanshoo Sudhir Thakkar, Jonathan Durell, Subhasis Chakraborty, Bianca-Lea Tingle, Arnwald Choi, Darren J Fowler

Eur J Pediatr Surg· August 2017

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Pathology of asymptomatic, prenatally diagnosed cystic lung malformations.
Jonathan Durell, Hemanshoo Thakkar, Steve Gould, Darren Fowler, Kokila Lakhoo

J Pediatr Surg· February 2016

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The pathology of congenital lung lesions.
Darren J Fowler, Steve J Gould

Semin Pediatr Surg· August 2015

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The scale-up of a tissue engineered porous hydroxyapatite polymer composite scaffold for use in bone repair: an ovine femoral condyle defect study.
Edward Tayton, Matthew Purcell, James O Smith, Stuart Lanham, Steven M Howdle, Darren Fowler

J Biomed Mater Res A· April 2015

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EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Veerle Rc Eggens, Peter G Barth, Jikke-Mien F Niermeijer, Jonathan N Berg, Niklas Darin, Darren Fowler

Orphanet J Rare Dis· February 2014

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Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant.
Jane Gibson, Rodney D Gilbert, David J Bunyan, Elizabeth M Angus, Darren J Fowler

Genet Res (Camb)· December 2013

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Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease.
Rodney D Gilbert, Priya Sukhtankar, Katherine Lachlan, Darren J Fowler

Pediatr Nephrol· November 2013

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Eculizumab therapy for atypical haemolytic uraemic syndrome due to a gain-of-function mutation of complement factor B.
Rodney D Gilbert, Darren J Fowler, Elizabeth Angus, Stephen A Hardy, Louise Stanley

Pediatr Nephrol· August 2013

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Cisplatin-induced haemolytic uraemic syndrome associated with a novel intronic mutation of treated with eculizumab.
Rodney D Gilbert, Louise K Stanley, Darren J Fowler, Elizabeth M Angus, Steven A Hardy

Clin Kidney J· August 2013

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The role of osteoblast cells in the pathogenesis of unicameral bone cysts.
Alexander Aarvold, James O Smith, Edward R Tayton, Caroline J Edwards, Darren J Fowler

J Child Orthop· August 2012

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Intrapericardial teratoma in neonates: a surgical emergency.
Imthiaz Manoly, Nicola Viola, Darren Fowler, Kevin Roman, Marcus Haw

World J Pediatr Congenit Heart Surg· April 2011

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Indications and outcomes of deep anterior lamellar keratoplasty in children.
Samantha A Harding, Ken K Nischal, Anjali Upponi-Patil, Darren J Fowler

Ophthalmology· November 2010

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Ophthalmological aspects of Pierson syndrome.
Cecilie Bredrup, Verena Matejas, Margaret Barrow, Kvĕta Bláhová, Detlef Bockenhauer, Darren J Fowler

Am J Ophthalmol· October 2008

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Transaldolase deficiency in a two-year-old boy with cirrhosis.
Mirjam M Wamelink, Eduard A Struys, Gajja S Salomons, Darren Fowler, Cornelis Jakobs

Mol Genet Metab· June 2008

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Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorder.
Karin Tuschl, Philippa B Mills, Howard Parsons, Marian Malone, Darren Fowler

J Inherit Metab Dis· April 2008

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