1. A simple modification to the luminometric methylation assay to control for the effects of DNA fragmentation. (May 2015) Authors: Duman, Elif Aysimi; Kriaucionis, Skirmantas; Dunn, John J.; Hatchwell, Eli Journal: Biotechniques Issue: Volume 58:Number 5(2015) Page Start: 262 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Array comparative genomic hybridisation of 52 subjects with a Smith–Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay. Issue 4 (14th September 2009) Authors: Williams, Stephen R; Girirajan, Santhosh; Tegay, David; Nowak, Norma; Hatchwell, Eli; Elsea, Sarah H Journal: Journal of medical genetics Issue: Volume 47:Issue 4(2010) Page Start: 223 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Comparative genomic hybridization solves a 14‐year‐old PARKIN mystery. Issue 4 (29th August 2015) Authors: Schüle, Birgitt; Hatchwell, Eli; Eis, Peggy S.; Langston, J. William Journal: Annals of neurology Issue: Volume 78:Issue 4(2015:Oct.) Page Start: 663 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions. Issue 8 (12th April 2016) Authors: Tropeano, Maria; Howley, Deirdre; Gazzellone, Matthew J; Wilson, C Ellie; Ahn, Joo Wook; Stavropoulos, Dimitri J; Murphy, Clodagh M; Eis, Peggy S; Hatchwell, Eli; Dobson, Richard J B; Robertson, Dene; Holder, Muriel; Irving, Melita; Josifova, Dragana; Nehammer, Annelise; Ryten, Mina; Spain, Debbi... Journal: Journal of medical genetics Issue: Volume 53:Issue 8(2016) Page Start: 536 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum. Issue 5 (9th June 2020) Authors: Kimonis, Virginia; al Dubaisi, Rehab; Maclean, Andrew E; Hall, Kathy; Weiss, Lan; Stover, Alexander E; Schwartz, Philip H; Berg, Bethany; Cheng, Cheng; Parikh, Sumit; Conner, Blair R; Wu, Sitao; Hasso, Anton N; Scott, Daryl A; Koenig, Mary Kay; Karam, Rachid; Tang, Sha; Smith, Moyra; Chao, Elizab... Journal: Journal of medical genetics Issue: Volume 58:Issue 5(2021) Page Start: 314 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Support for the prion hypothesis for inheritance of a phenotypic trait in yeast. Issue 4 (April 1997) Authors: Hatchwell, Eli Journal: Journal of medical genetics Issue: Volume 34:Issue 4(1997) Page Start: 349 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD. Issue 3 (14th January 2016) Authors: Richard, Anne Claire; Rovelet‐Lecrux, Anne; Delaby, Elsa; Charbonnier, Camille; Thiruvahindrapuram, Bhooma; Hatchwell, Eli; Eis, Peggy S.; Afenjar, Alexandra; Gilbert Dussardier, Brigitte; Scherer, Stephen W.; Betancur, Catalina; Campion, Dominique Journal: American journal of medical genetics Issue: Volume 171:Issue 3(2016) Page Start: 377 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗