1. 3q27.3 Microdeletion syndrome: further delineation of the second region of overlap and atopic dermatitis as a phenotypic feature. Issue 3 (July 2017) Authors: Jewell, Rosalyn; Eng, Bennett; Coates, Andrea; Hewitt, Sarah; Hobson, Emma Journal: Clinical dysmorphology Issue: Volume 26:Issue 3(2017:Jul.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. An unusual phenotype of X‐linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene. Issue 4 (23rd January 2014) Authors: Hartill, Verity L.; Tysoe, Carolyn; Manning, Nigel; Dobbie, Angus; Santra, Saikat; Walter, John; Caswell, Richard; Koster, Janet; Waterham, Hans; Hobson, Emma Journal: American journal of medical genetics Issue: Volume 164:Issue 4(2014.) Page Start: 907 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and genetic characteristics of late-onset Huntington's disease. (April 2019) Authors: Bachoud-Lévi, Anne-Catherine; Bentivoglio, Anna-Rita; Biunno, Ida; Bonelli, Raphael M.; Bronzova, Juliana; Burgunder, Jean-Marc; Dunnett, Stephen B.; Ferreira, Joaquim J.; Frich, Jan; Giuliano, Joe; Handley, Olivia J.; Heiberg, Arvid; Illarioshkin, Sergey; Illmann, Torsten; Klempir, Jiri; Landweh... Journal: Parkinsonism & related disorders Issue: Volume 61(2019) Page Start: 101 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant. Issue 8 (25th May 2021) Authors: Poole, Rebecca L.; Curry, Philippa D. K.; Marcinkute, Ruta; Brewer, Carole; Coman, David; Hobson, Emma; Johnson, Diana; Lynch, Sally Ann; Saggar, Anand; Searle, Claire; Scurr, Ingrid; Turnpenny, Peter D.; Vasudevan, Pradeep; Tatton‐Brown, Katrina Journal: American journal of medical genetics Issue: Volume 185:Issue 8(2021) Page Start: 2445 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis. Issue 12 (30th September 2019) Authors: Balasubramanian, Meena; Hobson, Emma; Skae, Mars; McCaughey, Janine; Stephens, David J. Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 12(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome. Issue 2 (5th November 2021) Authors: Wood, Katherine A.; Ellingford, Jamie M.; Thomas, Huw B.; Douzgou, Sofia; Beaman, Glenda M.; Hobson, Emma; Prescott, Katrina; O'Keefe, Raymond T.; Newman, William G. Journal: Clinical genetics Issue: Volume 101:Issue 2(2022) Page Start: 255 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. Issue 1 (11th October 2017) Authors: Hamilton, Mark J; Caswell, Richard C; Canham, Natalie; Cole, Trevor; Firth, Helen V; Foulds, Nicola; Heimdal, Ketil; Hobson, Emma; Houge, Gunnar; Joss, Shelagh; Kumar, Dhavendra; Lampe, Anne Katrin; Maystadt, Isabelle; McKay, Victoria; Metcalfe, Kay; Newbury-Ecob, Ruth; Park, Soo-Mi; Robert, Leem... Journal: Journal of medical genetics Issue: Volume 55:Issue 1(2018) Page Start: 28 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality. Issue 5 (22nd June 2020) Authors: Elpidorou, Marilena; Best, Sunayna; Poulter, James A; Hartill, Verity; Hobson, Emma; Sheridan, Eamonn; Johnson, Colin A Journal: Journal of medical genetics Issue: Volume 58:Issue 5(2021) Page Start: 334 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations. Issue 12 (30th August 2016) Authors: Pollitt, Rebecca C.; Saraff, Vrinda; Dalton, Ann; Webb, Emma A.; Shaw, Nick J.; Sobey, Glenda J.; Mughal, M. Zulf; Hobson, Emma; Ali, Farhan; Bishop, Nicholas J.; Arundel, Paul; Högler, Wolfgang; Balasubramanian, Meena Journal: American journal of medical genetics Issue: Volume 170:Issue 12(2016) Page Start: 3150 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature. Issue 3 (13th January 2019) Authors: Cleaver, Ruth; Berg, Jonathan; Craft, Emily; Foster, Alison; Gibbons, Richard J.; Hobson, Emma; Lachlan, Katherine; Naik, Swati; Sampson, Julian R.; Sharif, Saba; Smithson, Sarah; Parker, Michael J.; Tatton‐Brown, Katrina Journal: American journal of medical genetics Issue: Volume 179:Issue 3(2019) Page Start: 344 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗