1. Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome. (8th August 2013) Authors: Cross, J Helen; Arora, Ruchi; Heckemann, Rolf A; Gunny, Roxana; Chong, Kling; Carr, Lucinda; Baldeweg, Torsten; Differ, Ann‐Marie; Lench, Nicholas; Varadkar, Sophie; Sirimanna, Tony; Wassmer, Evangeline; Hulton, Sally A; Ognjanovic, Milos; Ramesh, Venkateswaran; Feather, Sally; Kleta, Robert; Ham... Journal: Developmental medicine & child neurology Issue: Volume 55:Number 9(2013:Sep.) Page Start: 846 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations. Issue 8 (1st July 2014) Authors: Futema, Marta; Plagnol, Vincent; Li, KaWah; Whittall, Ros A; Neil, H Andrew W; Seed, Mary; Bertolini, Stefano; Calandra, Sebastiano; Descamps, Olivier S; Graham, Colin A; Hegele, Robert A; Karpe, Fredrik; Durst, Ronen; Leitersdorf, Eran; Lench, Nicholas; Nair, Devaki R; Soran, Handrean; Van Bockx... Journal: Journal of medical genetics Issue: Volume 51:Issue 8(2014) Page Start: 537 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis. Issue 11 (5th September 2014) Authors: Kammermeier, Jochen; Drury, Suzanne; James, Chela T; Dziubak, Robert; Ocaka, Louise; Elawad, Mamoun; Beales, Philip; Lench, Nicholas; Uhlig, Holm H; Bacchelli, Chiara; Shah, Neil Journal: Journal of medical genetics Issue: Volume 51:Issue 11(2014) Page Start: 748 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Diagnostic implications of genetic copy number variation in epilepsy plus. (13th March 2019) Authors: Coppola, Antonietta; Cellini, Elena; Stamberger, Hannah; Saarentaus, Elmo; Cetica, Valentina; Lal, Dennis; Djémié, Tania; Bartnik‐Glaska, Magdalena; Ceulemans, Berten; Helen Cross, J.; Deconinck, Tine; Masi, Salvatore De; Dorn, Thomas; Guerrini, Renzo; Hoffman‐Zacharska, Dorotha; Kooy, Frank; Lag... Other Names: Lehesjioki Anna‐Elina investigator.; Craiu Dana investigator.; Talvik Tiina investigator.; Caglayan Hande investigator.; Serratosa Jose investigator.; Sterbova Katalin investigator.; Møller Rikke S. investigator.; Hjalgrim Helle investigator.; Lerche Holger investigator.; Weber Yvonne investigato... Journal: Epilepsia Issue: Volume 60:issue 4(2019) Page Start: 689 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis—Further evidence of genotype–phenotype correlation. Issue 7 (3rd April 2014) Authors: Drury, Suzanne; Boustred, Christopher; Tekman, Mehmet; Stanescu, Horia; Kleta, Robert; Lench, Nicholas; Chitty, Lyn S.; Scott, Richard H. Journal: American journal of medical genetics Issue: Volume 164:Issue 7(2014.) Page Start: 1777 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. The clinical implementation of non‐invasive prenatal diagnosis for single‐gene disorders: challenges and progress made. (17th May 2013) Authors: Lench, Nicholas; Barrett, Angela; Fielding, Sarah; McKay, Fiona; Hill, Melissa; Jenkins, Lucy; White, Helen; Chitty, Lyn S.; Chitty, Lyn S.; Bianchi, Diana W. Journal: Prenatal diagnosis Issue: Volume 33:Number 6(2013:Jun.) Page Start: 555 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization. (14th November 2013) Authors: Karampetsou, Evangelia; Morrogh, Deborah; Ballard, Terry; Waters, Jonathan J.; Lench, Nicholas; Chitty, Lyn S. Journal: Prenatal diagnosis Issue: Volume 34:Number 1(2014:Jan.) Page Start: 98 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Non‐invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next‐generation sequencing allows for a safer, more accurate, and comprehensive approach. (26th May 2015) Authors: Chitty, Lyn S.; Mason, Sarah; Barrett, Angela N.; McKay, Fiona; Lench, Nicholas; Daley, Rebecca; Jenkins, Lucy A. Journal: Prenatal diagnosis Issue: Volume 35:Number 7(2015:Jul.) Page Start: 656 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Favourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factor. (23rd April 2015) Authors: Schoeler, Natasha E; Cross, Judith Helen; Drury, Suzanne; Lench, Nicholas; McMahon, Jacinta M; MacKay, Mark T; Scheffer, Ingrid E; Sander, Josemir W; Sisodiya, Sanjay M Journal: Developmental medicine & child neurology Issue: Volume 57:Number 10(2015:Oct.) Page Start: 969 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities. (11th September 2015) Authors: Drury, Suzanne; Williams, Hywel; Trump, Natalie; Boustred, Christopher; GOSGene; Lench, Nicholas; Scott, Richard H.; Chitty, Lyn S.; Chitty, Lyn S.; Bianchi, Diana W. Journal: Prenatal diagnosis Issue: Volume 35:Number 10(2015:Oct.) Page Start: 1010 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗