Publications by authors named "Nicholas Lench"

Claim this Profile
S
Somatic variants as a cause of drug-resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis.
Robert J Carton, Michael G Doyle, Hugh Kearney, Charles A Steward, Nicholas J Lench

Epilepsia· May 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Improving the clinical interpretation of missense variants in X linked genes using structural analysis.
Shalaw Rassul Sallah, Jamie M Ellingford, Panagiotis I Sergouniotis, Simon C Ramsden, Nicholas Lench

J Med Genet· April 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.
Katherine A Benson, Maire White, Nicholas M Allen, Susan Byrne, Robert Carton, Nicholas J Lench

Eur J Hum Genet· August 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in .
Charles A Steward, Jolien Roovers, Marie-Marthe Suner, Jose M Gonzalez, Barbara Uszczynska-Ratajczak, Nicholas J Lench

NPJ Genom Med· December 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Diagnostic implications of genetic copy number variation in epilepsy plus.
Antonietta Coppola, Elena Cellini, Hannah Stamberger, Elmo Saarentaus, Valentina Cetica, Nicholas Lench

Epilepsia· April 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes.
Manuela Pigors, John E A Common, Xuan Fei Colin C Wong, Sajid Malik, Claire A Scott, Nicholas Lench

J Invest Dermatol· December 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Favourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factor.
Natasha E Schoeler, Judith Helen Cross, Suzanne Drury, Nicholas Lench, Jacinta M McMahon

Dev Med Child Neurol· October 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.
Suzanne Drury, Hywel Williams, Natalie Trump, Christopher Boustred, , Nicholas Lench

Prenat Diagn· October 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.
Lyn S Chitty, Sarah Mason, Angela N Barrett, Fiona McKay, Nicholas Lench

Prenat Diagn· July 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
CHD2 variants are a risk factor for photosensitivity in epilepsy.
Elizabeth C Galizia, Candace T Myers, Costin Leu, Carolien G F de Kovel, Tatiana Afrikanova, Nicholas Lench

Brain· May 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.
Jameela A Kari, Giovanni Montini, Detlef Bockenhauer, Eileen Brennan, Lesley Rees, Nicholas Lench

Pediatr Nephrol· November 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis.
Jochen Kammermeier, Suzanne Drury, Chela T James, Robert Dziubak, Louise Ocaka, Nicholas Lench

J Med Genet· November 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
W
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.
Marta Futema, Vincent Plagnol, KaWah Li, Ros A Whittall, H Andrew W Neil, Nicholas Lench

J Med Genet· August 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.
Suzanne Drury, Christopher Boustred, Mehmet Tekman, Horia Stanescu, Robert Kleta, Nicholas Lench

Am J Med Genet A· July 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol.
Melissa Hill, David Wright, Rebecca Daley, Celine Lewis, Fiona McKay, Nicholas Lench

BMC Pregnancy Childbirth· July 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
K
KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.
Sophie Parrock, Sofia Hussain, Naomi Issler, Ann-Marie Differ, Nicholas Lench

Nephron Physiol· June 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.
Annamaria Macchiaroli, Daniel Kelberman, Renata Simona Auriemma, Suzanne Drury, Lily Islam, Nicholas Lench

Gene· January 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization.
Evangelia Karampetsou, Deborah Morrogh, Terry Ballard, Jonathan J Waters, Nicholas Lench

Prenat Diagn· January 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Evaluation of real-time quantitative PCR as a standard cytogenetic diagnostic tool for confirmation of microarray (aCGH) results and determination of inheritance.
Rubin Wang, Jenny Carter, Nicholas Lench

Genet Test Mol Biomarkers· November 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.
J Helen Cross, Ruchi Arora, Rolf A Heckemann, Roxana Gunny, Kling Chong, Nicholas Lench

Dev Med Child Neurol· September 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made.
Nicholas Lench, Angela Barrett, Sarah Fielding, Fiona McKay, Melissa Hill

Prenat Diagn· June 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
U
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study.
Philippa J Talmud, Sonia Shah, Ros Whittall, Marta Futema, Philip Howard, Nicholas Lench

Lancet· April 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss.
Luan Linden Phillips, Maria Bitner-Glindzicz, Nicholas Lench, Karen P Steel, Cordelia Langford

Int J Audiol· February 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.
Ebele Usifo, Sarah E A Leigh, Ros A Whittall, Nicholas Lench, Alison Taylor

Ann Hum Genet· September 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbidities.
Elizabeth C Galizia, Maithili Srikantha, Rodger Palmer, Jonathan J Waters, Nicholas Lench

Eur J Med Genet· May 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis