6q25.1 (TAB2) microdeletion is a risk factor for hypoplastic left heart: a case report that expands the phenotype

by Andrew Cheng, Whitney Neufeld-Kaiser, Peter H. Byers, Yajuan J. Liu
Published 2020-03-01

Abnormal Bone Collagen Cross‐Linking in Osteogenesis Imperfecta/Bruck Syndrome Caused by Compound Heterozygous PLOD2 Mutations

by Charlotte Gistelinck, MaryAnn Weis, Jyoti Rai, Ulrike Schwarze, Dmitriy Niyazov, Kit M Song, Peter H Byers, David R Eyre
Published 2021-03-01

True radial artery aneurysm in a patient with somatic mosaicism for a mutation in platelet-derived growth factor receptor β gene

by Sherene Shalhub, MD, MPH, Lisa Hysa, BS, Peter H. Byers, MD, Mark H. Meissner, MD, Manuel Ferreira, Jr., MD, PhD
Published 2021-09-01

Extrathoracic subclavian artery aneurysm in a patient with suspected genetic arteriopathy

by Stephanie K. Banning, BS, Rebecca Ur, MD, James Malleis, MD, Christian A. Hamlat, MD, Peter H. Byers, MD, Sherene Shalhub, MD, MPH
Published 2021-03-01

Substitutions for arginine at position 780 in triple helical domain of the α1(I) chain alter folding of the type I procollagen molecule and cause osteogenesis imperfecta.

by Elena Makareeva, Guoli Sun, Lynn S Mirigian, Edward L Mertz, Juan C Vera, Nydea A Espinoza, Kathleen Yang, Diana Chen, Teri E Klein, Peter H Byers, Sergey Leikin
Published 2018-01-01

Generalized connective tissue disease in Crtap-/- mouse.

by Dustin Baldridge, Jennifer Lennington, MaryAnn Weis, Erica P Homan, Ming-Ming Jiang, Elda Munivez, Douglas R Keene, William R Hogue, Shawna Pyott, Peter H Byers, Deborah Krakow, Daniel H Cohn, David R Eyre, Brendan Lee, Roy Morello
Published 2010-05-01

Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta

by Thao T. Tran, Rachel B. Keller, Brecht Guillemyn, Melanie Pepin, Jane E. Corteville, Samir Khatib, Mohammad-Sadegh Fallah, Sirous Zeinali, Fransiska Malfait, Sofie Symoens, Paul Coucke, Peter Witters, Elena Levtchenko, Hamideh Bagherian, Deborah A. Nickerson, Michael J. Bamshad, Jessica X. Chong, Peter H. Byers
Published 2021-10-01

A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta

by Jaskaran S Bains, Erin M Carter, Kate P Citron, Adele L Boskey, Jay R Shapiro, Robert D Steiner, Peter A Smith, Michael B Bober, Tracy Hart, David Cuthbertson, Jeff Krischer, Peter H Byers, Melanie Pepin, Michaela Durigova, Francis H Glorieux, Frank Rauch, Joseph M Sliepka, V Reid Sutton, Brendan Lee, Members of the BBD Consortium, Sandesh CS Nagamani, Cathleen L Raggio
Published 2019-05-01