Publications by authors named "Nick Lench"

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Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.
Antonietta Coppola, S Krithika, Michele Iacomino, Dheeraj Bobbili, Simona Balestrini, Nick Lench

Epilepsia· March 2024

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Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling.
Shalaw R Sallah, Panagiotis I Sergouniotis, Claire Hardcastle, Simon Ramsden, Andrew J Lotery, Nick Lench

J Mol Diagn· December 2022

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Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar.
Shalaw R Sallah, Panagiotis I Sergouniotis, Stephanie Barton, Simon Ramsden, Rachel L Taylor, Nick Lench

Eur J Hum Genet· September 2020

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Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Emma S Reid, Apostolos Papandreou, Suzanne Drury, Christopher Boustred, Wyatt W Yue, Nick Lench

Brain· November 2016

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Functional analysis of four LDLR 5'UTR and promoter variants in patients with familial hypercholesterolaemia.
Amna Khamis, Jutta Palmen, Nick Lench, Alison Taylor, Ebele Badmus

Eur J Hum Genet· June 2015

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Genetic testing in renal disease.
Detlef Bockenhauer, Alan J Medlar, Emma Ashton, Robert Kleta, Nick Lench

Pediatr Nephrol· June 2012

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Molecular prenatal diagnosis: the impact of modern technologies.
F Lucy Raymond, Joanne Whittaker, Lucy Jenkins, Nick Lench, Lyn S Chitty

Prenat Diagn· July 2010

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Single-point haplotype scores telomeric to human leukocyte antigen-C give a high susceptibility major histocompatibility complex haplotype for psoriasis in a Caucasian population.
Nick Lench, Mark M Iles, Ian Mackay, Ramila Patel, Gurdeep S Sagoo

J Invest Dermatol· March 2005

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Inflammatory bowel disease is linked to 19p13 and associated with ICAM-1.
Jin Hong Low, Fiona A Williams, Xuesong Yang, Sue Cullen, James Colley, Nick J Lench

Inflamm Bowel Dis· May 2004

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Positional cloning of a novel gene influencing asthma from chromosome 2q14.
Maxine Allen, Andrea Heinzmann, Emiko Noguchi, Gonçalo Abecasis, John Broxholme, Nick Lench

Nat Genet· November 2003

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