1. 4‐PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis Imperfecta. (28th January 2022) Authors: Duran, Ivan; Zieba, Jennifer; Csukasi, Fabiana; Martin, Jorge H.; Wachtell, Davis; Barad, Maya; Dawson, Brian; Fafilek, Bohumil; Jacobsen, Christina M.; Ambrose, Catherine G.; Cohn, Daniel H.; Krejci, Pavel; Lee, Brendan H.; Krakow, Deborah Journal: Journal of bone and mineral research Issue: Volume 37:Number 4(2022) Page Start: 675 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Adult presentation of X‐linked Conradi‐Hünermann‐Happle syndrome. (2nd April 2015) Authors: Posey, Jennifer E.; Burrage, Lindsay C.; Campeau, Philippe M.; Lu, James T.; Eble, Tanya N.; Kratz, Lisa; Schlesinger, Alan E.; Gibbs, Richard A.; Lee, Brendan H.; Nagamani, Sandesh C.S. Journal: American journal of medical genetics Issue: Volume 167:Number 6(2015:Jun.) Page Start: 1309 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. (August 2018) Authors: Machol, Keren; Jankovic, Joseph; Vijayakumar, Dhanya; Burrage, Lindsay C.; Jain, Mahim; Lewis, Richard A.; Fuller, Gregory N.; Xu, Mingchu; Penas-Prado, Marta; Gule-Monroe, Maria K.; Rosenfeld, Jill A.; Chen, Rui; Eng, Christine M.; Yang, Yaping; Lee, Brendan H.; Moretti, Paolo M.; Dhar, Shweta U... Journal: Neurology Issue: Volume 4:Number 4(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. Issue 3 (26th November 2016) Authors: Machol, Keren; Jain, Mahim; Almannai, Mohammed; Orand, Thibault; Lu, James T.; Tran, Alyssa; Chen, Yuqing; Schlesinger, Alan; Gibbs, Richard; Bonafe, Luisa; Campos‐Xavier, Ana Belinda; Unger, Sheila; Superti‐Furga, Andrea; Lee, Brendan H.; Campeau, Philippe M.; Burrage, Lindsay C. Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 733 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Effects of Aspirin on Growth Factor Release From Freshly Isolated Leukocyte-Rich Platelet-Rich Plasma in Healthy Men: A Prospective Fixed-Sequence Controlled Laboratory Study. Issue 5 (April 2019) Authors: Jayaram, Prathap; Yeh, Peter; Patel, Shiv J.; Cela, Racel; Shybut, Theodore B.; Grol, Matthew W.; Lee, Brendan H. Journal: American journal of sports medicine Issue: Volume 47:Issue 5(2019) Page Start: 1223 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. Issue 4 (26th December 2019) Authors: Machol, Keren; Hadley, Trevor D.; Schmidt, Jake; Cuthbertson, David; Traboulsi, Henri; Silva, Rodrigo C.; Citron, Chloe; Khan, Sobiah; Citron, Kate; Carter, Erin; Brookler, Kenneth; Shapiro, Jay R.; Steiner, Robert D.; Byers, Peter H.; Glorieux, Francis H.; Durigova, Michaela; Smith, Peter; Bober... Journal: American journal of medical genetics Issue: Volume 182:Issue 4(2020) Page Start: 697 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Heterozygous variants in SPTBN1 cause intellectual disability and autism. Issue 7 (13th April 2021) Authors: Rosenfeld, Jill A.; Xiao, Rui; Bekheirnia, Mir Reza; Kanani, Farah; Parker, Michael J.; Koenig, Mary K.; van Haeringen, Arie; Ruivenkamp, Claudia; Rosmaninho‐Salgado, Joana; Almeida, Pedro M.; Sá, Joaquim; Pinto Basto, Jorge; Palen, Emily; Oetjens, Kathryn F.; Burrage, Lindsay C.; Xia, Fan; Liu, ... Journal: American journal of medical genetics Issue: Volume 185:Issue 7(2021) Page Start: 2037 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Heterozygous WNT1 variant causing a variable bone phenotype. Issue 11 (24th September 2018) Authors: Alhamdi, Shatha; Lee, Yi‐Chien; Chowdhury, Shimul; Byers, Peter H.; Gottschalk, Michael; Taft, Ryan J.; Joeng, Kyu Sang; Lee, Brendan H.; Bird, Lynne M. Journal: American journal of medical genetics Issue: Volume 176:Issue 11(2018) Page Start: 2419 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. MiRNA‐34c Suppresses Osteosarcoma Progression In Vivo by Targeting Notch and E2F. (9th April 2022) Authors: Bae, Yangjin; Zeng, Huan‐Chang; Chen, Yi‐Ting; Ketkar, Shamika; Munivez, Elda; Yu, Zhiyin; Gannon, Francis H.; Lee, Brendan H. Journal: JBMR plus Issue: Volume 6:Number 5(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature. Issue 6 (23rd February 2022) Authors: Magyar, Christina L.; Murdock, David R.; Burrage, Lindsay C.; Dai, Hongzheng; Lalani, Seema R.; Lewis, Richard A.; Lin, Yuezhen; Astudillo, Marcela F.; Rosenfeld, Jill A.; Tran, Alyssa A.; Gibson, James B.; Bacino, Carlos A.; Lee, Brendan H.; Chao, Hsiao‐Tuan Journal: American journal of medical genetics Issue: Volume 188:Issue 6(2022) Page Start: 1868 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗