Paul R Hillman
7PUBLICATIONS
26CO-AUTHORS
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Publications (7)
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|Feb 05, 2025
Rapid Whole Genome Sequencing Uncovers a Triple Diagnosis: X-Linked Chondrodysplasia Punctata, MECP2-Related Disorder, and Mosaic Jacobs Syndrome.Megan Samuels, Kathleen Shields, Paul Hillman
|Mar 22, 2023
An ASO therapy for Angelman syndrome that targets an evolutionarily conserved region at the start of the UBE3A-AS transcript.Scott V Dindot, Sarah Christian, William J Murphy
|Feb 09, 2023
Renal-hepatic-pancreatic dysplasia type 2: Perinatal lethal condition or a multisystemic disorder with variable expressivity.Kathryn Gunther, Essam M Imseis, Joyce P Samuel
|Feb 05, 2022
Identification of a novel microdeletion causative of Nance-Horan syndrome.Mariana Lopez Martinolich, Hope Northrup, Pedro Mancias
|Sep 02, 2021
The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report.Marta Frigeni, David F Rodriguez-Buritica, Heather Saavedra
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Frequent Collaborators
2 joint publications
Kathryn Gunther
1 joint publications
Kavya Rao
1 joint publications
Kate Mowrey
1 joint publications
Scott V Dindot
1 joint publications
Sarah Christian
1 joint publications
William J Murphy
1 joint publications
Jennifer Panagoulias
1 joint publications
Annalise Schlafer
1 joint publications
Johnathan Ballard
1 joint publications
Kamelia Radeva