Paul R Hillman

6PUBLICATIONS
22CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Hypersonic propulsion and hypersonic aerothermodynamicsNeonatologyVision scienceImmunogenetics (incl. genetic immunology)
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Publications (6)

|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

|Sep 22, 2020
Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one-carbon metabolism networks.

Paul Hillman, Craig Baker, Luke Hebert

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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