1. AIFM1‐associated X‐linked spondylometaphyseal dysplasia with cerebral hypomyelination. Issue 4 (13th January 2021) Authors: Edgerley, Katharine; Barnicoat, Angela; Offiah, Amaka C.; Calder, Alistair D.; Mankad, Kshitij; Thomas, Nicholas Simon; Bunyan, David J.; Williams, Maggie; Buxton, Chris; Majumdar, Arniban; Vijayakumar, Kayal; Hilliard, Tom; Turner, James; Burren, Christine P.; Monsell, Fergal; Smithson, Sarah F. Journal: American journal of medical genetics Issue: Volume 185:Issue 4(2021) Page Start: 1228 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical report follow up: Type 1 Collagenopathy presenting with a Russell–Silver phenotype. Issue 1 (17th December 2018) Authors: Kanani, Farah; Parker, Michael J.; Burren, Christine P.; Rankin, Julia; Balasubramanian, Meena Journal: American journal of medical genetics Issue: Volume 179:Issue 1(2019) Page Start: 139 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cover Image, Volume 176A, Number 11, November 2018. Issue 11 (8th December 2018) Authors: Burren, Christine P.; Caswell, Richard; Castle, Bruce; Welch, C. Ross; Hilliard, Tom N.; Smithson, Sarah F.; Ellard, Sian Journal: American journal of medical genetics Issue: Volume 176:Issue 11(2018) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cover Image, Volume 176A, Number 9, September 2018. Issue 9 (22nd September 2018) Authors: Burren, Christine P.; Caswell, Richard; Castle, Bruce; Welch, C. Ross; Hilliard, Tom N.; Smithson, Sarah F.; Ellard, Sian Journal: American journal of medical genetics Issue: Volume 176:Issue 9(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Diagnostic and management challenges from childhood, puberty through to transition in severe insulin resistance due to insulin receptor mutations. Issue 8 (17th January 2017) Authors: Wei, Christina; Burren, Christine P. Journal: Pediatric diabetes Issue: Volume 18:Issue 8(2017) Page Start: 835 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome. Issue 10 (11th August 2020) Authors: Ashraf, Tazeen; Vaina, Camelia; Giri, Dinesh; Burren, Christine P.; James, Margaret; Offiah, Amaka C.; Overton, Timothy; Baptista, Julia; Ellard, Sian; Smithson, Sarah F. Journal: American journal of medical genetics Issue: Volume 182:Issue 10(2020) Page Start: 2403 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Hartsfield syndrome associated with a novel heterozygous missense mutation in FGFR1 and incorporating tumoral calcinosis. Issue 8 (12th May 2016) Authors: Prasad, Rathi; Brewer, Carole; Burren, Christine P. Journal: American journal of medical genetics Issue: Volume 170:Issue 8(2016) Page Start: 2222 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton. Issue 9 (25th August 2018) Authors: Burren, Christine P.; Caswell, Richard; Castle, Bruce; Welch, C. Ross; Hilliard, Tom N.; Smithson, Sarah F.; Ellard, Sian Journal: American journal of medical genetics Issue: Volume 176:Issue 9(2018) Page Start: 1950 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗