1. A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene. Issue 4 (12th April 2012) Authors: Khalifa, Ola; Imtiaz, Faiqa; Allam, Rabab; Al-Hassnan, Zuhair; Al-Hemidan, Amal; Al-Mane, Khalid; Abuharb, Gheid; Balobaid, Ameera; Sakati, Nadia; Hyland, James; Al-Owain, Mohammed Journal: Journal of medical genetics Issue: Volume 49:Issue 4(2012) Page Start: 246 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. (June 2015) Authors: Regalado, Ellen S.; Guo, Dong-chuan; Prakash, Siddharth; Bensend, Tracy A.; Flynn, Kelly; Estrera, Anthony; Safi, Hazim; Liang, David; Hyland, James; Child, Anne; Arno, Gavin; Boileau, Catherine; Jondeau, Guillaume; Braverman, Alan; Moran, Rocio; Morisaki, Takayuki; Morisaki, Hiroko; Pyeritz, Ree... Journal: Circulation Issue: Volume 8:Number 3(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue1. Issue 3 (11th February 2013) Authors: Li, Ben C.; Hogue, Jacob; Eilers, Meg; Mehrotra, Pavni; Hyland, James; Holm, Tara; Prosen, Tracy; Slavotinek, Anne M. Journal: American journal of medical genetics Issue: Volume 161:Issue 3(2013:Mar.) Page Start: 619 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm. (3rd March 2014) Authors: Fitzgerald, Kristi K.; Bhat, Abdul Majeed; Conard, Katrina; Hyland, James; Pizarro, Christian Other Names: Cheng C.-W. Academic Editor.; Fenger M. Academic Editor.; Huang C.-S. Academic Editor.; Morrison P. Academic Editor.; Vogt G. Academic Editor. Journal: Case reports in genetics Issue: Volume 2014(2014) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗