Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD)

by Stephen G. Kaler, Carlos R. Ferreira, Lung S. Yam
Published 2020-09-01

Short report: Twins with 20p13 duplication. Case report and comprehensive literature review

by Benjamin J. Kennedy, Sarah K. Savage, Stephen G. Kaler
Published 2024-05-01

Fetal Brain-directed AAV Gene Therapy Results in Rapid, Robust, and Persistent Transduction of Mouse Choroid Plexus Epithelia

by Marie Reine Haddad, Anthony Donsante, Patricia Zerfas, Stephen G Kaler
Published 2013-01-01

Targeted next generation sequencing for newborn screening of Menkes disease

by Richard B. Parad, Stephen G. Kaler, Evan Mauceli, Tanya Sokolsky, Ling Yi, Arindam Bhattacharjee
Published 2020-09-01

Transduction characteristics of alternative adeno-associated virus serotypes in the cat brain by intracisternal delivery

by Jacqueline E. Hunter, Caitlyn M. Molony, Jessica H. Bagel, Patricia A. O’Donnell, Stephen G. Kaler, John H. Wolfe
Published 2022-09-01

Pregnancy outcomes in Liberian women who conceived after recovery from Ebola virus disease

by Mosoka P Fallah, Laura A Skrip, Bernice T Dahn, Tolbert G Nyenswah, Hilary Flumo, Meekie Glayweon, Tee L Lorseh, Stephen G Kaler, Elizabeth S Higgs, Alison P Galvani
Published 2016-10-01

Cerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model

by Marie Reine Haddad, Eun-Young Choi, Patricia M. Zerfas, Ling Yi, Diego Martinelli, Patricia Sullivan, David S. Goldstein, Jose A. Centeno, Lauren R. Brinster, Martina Ralle, Stephen G. Kaler
Published 2018-09-01

Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.

by Prashant Sharma, Marie Reichert, Yan Lu, Thomas C Markello, David R Adams, Peter J Steinbach, Brie K Fuqua, Xenia Parisi, Stephen G Kaler, Christopher D Vulpe, Gregory J Anderson, William A Gahl, May Christine V Malicdan
Published 2019-05-01