N. Lench

发表

KCNJ10 Mutations Display Differential Sensitivity to Heteromerisation with KCNJ16

N. Knoers, A. Differ, R. Kleta, 2013, Nephron Physiology.

Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis

P. Beales, H. Uhlig, C. Bacchelli, 2014, Journal of Medical Genetics.

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

Jonathan M. Mudge, Dmitri D. Pervouchine, J. Harrow, 2019, npj Genomic Medicine.

Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons

Jonathan M. Mudge, Dmitri D. Pervouchine, J. Harrow, 2019, bioRxiv.

Diagnostic Genomics and Clinical Bioinformatics

N. Lench, A. Haworth, H. Savage, 2016 .

The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants.

L. Cardon, D. Jewell, D. McGovern, 2003, Human molecular genetics.

Analysis of the IBD5 locus and potential gene-gene interactions in Crohn’s disease

L. Cardon, D. Jewell, D. McGovern, 2003, Gut.

Single-point haplotype scores telomeric to human leukocyte antigen-C give a high susceptibility major histocompatibility complex haplotype for psoriasis in a Caucasian population.

M. Iles, R. Tazi-Ahnini, M. Cork, 2005, The Journal of investigative dermatology.

Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol

K. Spencer, V. Plagnol, L. Chitty, 2014, BMC Pregnancy and Childbirth.

Heterozygous manifestations in four autosomal recessive human cancer-prone syndromes: ataxia telangiectasia, xeroderma pigmentosum, Fanconi anemia, and Bloom syndrome.

R. Heim, N. Lench, M. Swift, 1992, Mutation research.

The clinical implementation of non‐invasive prenatal diagnosis for single‐gene disorders: challenges and progress made

A. Barrett, H. White, L. Chitty, 2013, Prenatal diagnosis.

Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization

L. Chitty, N. Lench, D. Morrogh, 2013, Prenatal diagnosis.

Con fi ned placental mosaicism : implications for fetal chromosomal analysis using microarray comparative genomic hybridization

L. Chitty, N. Lench, D. Morrogh, 2014 .

Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years

N. Sebire, D. Bockenhauer, N. Lench, 2014, Pediatric Nephrology.

A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.

M. Gasperi, S. Drury, N. Lench, 2014, Gene.

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

R. Scott, S. Drury, L. Chitty, 2015, Prenatal diagnosis.

A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis—Further evidence of genotype–phenotype correlation

R. Scott, S. Drury, L. Chitty, 2014, American journal of medical genetics. Part A.

Diagnostic implications of genetic copy number variation in epilepsy plus

H. Mefford, P. Stankiewicz, L. Lagae, 2019, Epilepsia.

CHD2 variants are a risk factor for photosensitivity in epilepsy

I. Scheffer, H. Mefford, R. Krause, 2015, Brain : a journal of neurology.

Genetic testing in renal disease

A. Medlar, R. Kleta, D. Bockenhauer, 2012, Pediatric Nephrology.

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes

T. Jacques, W. Yue, S. Rahman, 2016, Brain : a journal of neurology.

Mapping and Cloning of Genes for Inherited Hearing Impairment

N. Lench, R. Mueller, G. Camp, 2002 .

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach

A. Barrett, L. Chitty, N. Lench, 2015, Prenatal diagnosis.

A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly

N. Greene, A. Copp, P. Stanier, 2018, Clinical genetics.

Low‐Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment

Andrew C. R. Martin, Corin Yeats, Andrew C R Martin, 2012, Annals of human genetics.

Evaluation of real-time quantitative PCR as a standard cytogenetic diagnostic tool for confirmation of microarray (aCGH) results and determination of inheritance.

N. Lench, R. Wang, Jenny Carter, 2013, Genetic testing and molecular biomarkers.

Array comparative genomic hybridization: Results from an adult population with drug-resistant epilepsy and co-morbidities

S. Sisodiya, L. Nashef, D. Kasperavičiūtė, 2012, European journal of medical genetics.

Array comparative genomic hybridization : Results from an adult population with drug-resistant epilepsy and comorbidities

S. Sisodiya, L. Nashef, N. Lench, 2012 .

Uncovering Genomic Causes of Co-Morbidity in Epilepsy: Gene-Driven Phenotypic Characterization of Rare Microdeletions

R. Hennekam, P. Hammond, L. Martinian, 2011, PloS one.

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

Sonia Shah, S. Humphries, A. Hingorani, 2013, The Lancet.

A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

C. Steward, H. Kearney, G. Cavalleri, 2020, European Journal of Human Genetics.

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations

S. Humphries, R. Hegele, V. Plagnol, 2014, Journal of Medical Genetics.

Functional analysis of four LDLR 5′UTR and promoter variants in patients with familial hypercholesterolaemia

S. Humphries, J. Palmen, N. Lench, 2014, European Journal of Human Genetics.

Extent and distribution of linkage disequilibrium in three genomic regions.

L R Cardon, G. Abecasis, L. Cardon, 2001, American journal of human genetics.

Inflammatory Bowel Disease Is Linked to 19p13 and Associated with ICAM-1

D. Jewell, M. Neville, Tariq Ahmad, 2004, Inflammatory bowel diseases.

Analysis of the IBD 5 locus and potential gene-gene interactions in Crohn ’ s disease

L. Cardon, D. Jewell, D. McGovern, 2003 .

Fine mapping of the IBD1 locus did not identify Crohn disease-associated NOD2 variants: implications for complex disease genetics.

L. Cardon, D. Jewell, D. McGovern, 2002, American journal of medical genetics.

Replication and extension studies of inflammatory bowel disease susceptibility regions confirm linkage to chromosome 6p (IBD3)

L. Cardon, D. Jewell, P. Scambler, 2001, European Journal of Human Genetics.

The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss

K. Steel, C. Langford, M. Bitner-Glindzicz, 2012, International journal of audiology.

Positional cloning of a novel gene influencing asthma from Chromosome 2q14

Gonçalo Abecasis, John Broxholme, Chris P Ponting, 2003, Nature Genetics.

Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF(-kappa)B transcription factors.

L. Cardon, D. Kwiatkowski, D. Jewell, 2002 .

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Genetic aspects of ataxia telangiectasia.

R. Heim, N. Lench, M. Swift, 1993, Advances in neurology.

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR / APOB / PCSK 9 mutations

S. Humphries, R. Hegele, V. Plagnol, 2014 .

Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome

M. Lees, S. Drury, D. Bockenhauer, 2011, Pediatric Nephrology.

Molecular prenatal diagnosis: the impact of modern technologies

J. Whittaker, L. Chitty, N. Lench, 2010, Prenatal diagnosis.

Assessing the pathogenicity of in-frame CACNA1F indel variants using structural modelling.

Shalaw R. Sallah, S. Lovell, P. Sergouniotis, 2022, The Journal of molecular diagnostics : JMD.

Improving the clinical interpretation of missense variants in X linked genes using structural analysis

Shalaw R. Sallah, S. Lovell, P. Sergouniotis, 2021, Journal of Medical Genetics.

Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes.

X. F. C. C. Wong, M. Tang, J. Common, 2018, The Journal of investigative dermatology.

An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly

H. Brittain, N. Lench, D. Morrogh, 2017, Case reports in genetics.

Connexin-26 mutations in sporadic non-syndromal sensorineural deafness

N. Lench, R. Mueller, M. Houseman, 1998, The Lancet.

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome

Rolf A Heckemann, Alexander Hammers, Torsten Baldeweg, 2013, Developmental medicine and child neurology.

Mapping of the DFNB1 locus.

N. Lench, R. Mueller, 2000, Advances in oto-rhino-laryngology.

A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma

S. Drury, N. Lench, A. Barnicoat, 2014, The British journal of dermatology.

Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar

Mitra Kabir, Simon C. Lovell, Shalaw R. Sallah, 2020, European Journal of Human Genetics.

DFNB20: a novel locus for autosomal recessive, non-syndromal sensorineural hearing loss maps to chromosome 11q25–qter

N. Lench, R. Mueller, M. Houseman, 1999, European Journal of Human Genetics.

Inflammatory bowel disease is associated with a functional TNF polymorphism that affects an OCT1/NF-KB transcription factor interaction

L. Cardon, D. Kwiatkowski, D. Jewell, 2002 .

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

R. Scott, S. Drury, L. Chitty, 2015, Prenatal diagnosis.

Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population

G. Hitman, D. Kelsell, N. Lench, 2009, The British journal of dermatology.

Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF(-kappa)B transcription factors.

L. Cardon, D. Kwiatkowski, D. Jewell, 2002, Human molecular genetics.

A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

C. Steward, H. Kearney, G. Cavalleri, 2020, European Journal of Human Genetics.