1. Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies. Issue 2 (22nd November 2019) Authors: Girisha, Katta M.; Bhavani, Gandham S.; Shah, Hitesh; Moirangthem, Amita; Shukla, Anju; Kim, Ok‐Hwa; Nishimura, Gen; Mortier, Geert R. Journal: American journal of medical genetics Issue: Volume 182:Issue 2(2020) Page Start: 338 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Nosology and classification of genetic skeletal disorders: 2019 revision. Issue 12 (21st October 2019) Authors: Mortier, Geert R.; Cohn, Daniel H.; Cormier‐Daire, Valerie; Hall, Christine; Krakow, Deborah; Mundlos, Stefan; Nishimura, Gen; Robertson, Stephen; Sangiorgi, Luca; Savarirayan, Ravi; Sillence, David; Superti‐Furga, Andrea; Unger, Sheila; Warman, Matthew L. Journal: American journal of medical genetics Issue: Volume 179:Issue 12(2019) Page Start: 2393 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia. Issue 4 (29th January 2014) Authors: Girisha, Katta M.; Bidchol, Abdul Mueed; Kamath, Preeti S.; Shah, Krupa H.; Mortier, Geert R.; Mundlos, Stefan; Shah, Hitesh Journal: American journal of medical genetics Issue: Volume 164:Issue 4(2014.) Page Start: 898 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Regulation of body and brain size: role of MAP4 and other centrosomal proteins. Issue 1 (January 2015) Authors: Mortier, Geert R. Journal: Human mutation Issue: Volume 36:Issue 1(2015:Jan.) Page Start: v Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. (21st January 2015) Authors: Terhal, Paulien A.; Nievelstein, Rutger Jan A. J.; Verver, Eva J. J.; Topsakal, Vedat; van Dommelen, Paula; Hoornaert, Kristien; Le Merrer, Martine; Zankl, Andreas; Simon, Marleen E. H.; Smithson, Sarah F.; Marcelis, Carlo; Kerr, Bronwyn; Clayton‐Smith, Jill; Kinning, Esther; Mansour, Sahar; Elms... Journal: American journal of medical genetics Issue: Volume 167:Number 3(2015:Mar.) Page Start: 461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Nosology of genetic skeletal disorders: 2023 revision. Issue 5 (13th February 2023) Authors: Unger, Sheila; Ferreira, Carlos R.; Mortier, Geert R.; Ali, Houda; Bertola, Débora R.; Calder, Alistair; Cohn, Daniel H.; Cormier‐Daire, Valerie; Girisha, Katta M.; Hall, Christine; Krakow, Deborah; Makitie, Outi; Mundlos, Stefan; Nishimura, Gen; Robertson, Stephen P.; Savarirayan, Ravi; Sillence... Journal: American journal of medical genetics Issue: Volume 191:Issue 5(2023) Page Start: 1164 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo‐epiphyseal dysplasia. Issue 5 (21st March 2022) Authors: Holling, Tess; Bhavani, Gandham S.; von Elsner, Leonie; Shah, Hitesh; Kausthubham, Neethukrishna; Bhattacharyya, Shaila S.; Shukla, Anju; Mortier, Geert R.; Schinke, Thorsten; Danyukova, Tatyana; Pohl, Sandra; Kutsche, Kerstin; Girisha, Katta M. Journal: Human mutation Issue: Volume 43:Issue 5(2022) Page Start: 625 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗