Paul R Hillman (Paul Hillman)

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 6

Top Topics

Replacement Therapy

Top Venues

Molecular genetics & genomic medicine

Science translational medicine

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Scott V Dindot, Sarah Christian, William J Murphy, Allyson Berent, Jennifer Panagoulias, Annalise Schlafer, Johnathan Ballard, Kamelia Radeva, Ruth Robinson, Luke Myers, Thomas Jepp, Hillary Shaheen, Paul R Hillman, Kranti Konganti, Andrew E Hillhouse, Kevin R Bredemeyer, Lauren Black, Julie Douville, null null, null null
An ASO therapy for Angelman syndrome that targets an evolutionarily conserved region at the start of the UBE3A-AS transcript. Science translational medicine 15 (688) (2023)
Kathryn A Gunther, Essam M Imseis, Joyce P Samuel, Elizabeth A Hillman, Tiina H Ojala, Timo Jahnukainen, Paul R Hillman
Renal-hepatic-pancreatic dysplasia type 2: Perinatal lethal condition or a multisystemic disorder with variable expressivity. Molecular genetics & genomic medicine (2023)
Scott V Dindot, Sarah Christian, William J Murphy, Allyson Berent, Jennifer Panagoulias, Annalise Schlafer, Johnathan Ballard, Kamelia Radeva, Ruth Robinson, Luke Myers, Thomas Jepp, Hillary Shaheen, Paul R Hillman, Kranti Konganti, Andrew E Hillhouse, Kevin R Bredemeyer, Lauren Black, Julie Douville, null null, null null
An ASO therapy for Angelman syndrome that targets an evolutionarily conserved region at the start of the UBE3A-AS transcript. Science translational medicine 15 (688) (2023)
Mariana Lopez Martinolich, Hope Northrup, Pedro Mancias, Paul R Hillman, Kavya Indira Rao, Kate Mowrey
Identification of a novel microdeletion causative of Nance-Horan syndrome. Molecular genetics & genomic medicine 10 (3) (2022)
Marta Frigeni, David F Rodriguez-Buritica, Heather Saavedra, Kathryn A Gunther, Paul R Hillman, Duraisamy Balaguru, Hope Northrup
The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report. American journal of medical genetics. Part A 185 (11) (2021)
Paul R Hillman, Craig Baker, Luke Hebert, Michael Brown, James Hixson, Allison Ashley-Koch, Alanna C Morrison, Hope Northrup, Kit Sing Au
Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one-carbon metabolism networks. Molecular genetics & genomic medicine 8 (11) (2020)