Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Paul R Hillman

6PUBLICATIONS

22CO-AUTHORS

Gene expression (incl. microarray and other genome-wide approaches)Hypersonic propulsion and hypersonic aerothermodynamicsNeonatologyVision scienceImmunogenetics (incl. genetic immunology)

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (6)

Sort by Publication Date:

|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 <i>UBE3A-AS</i> 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

Pageof 1

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

Frequent Collaborators

2 joint publications

Kathryn Gunther

1 joint publications

Kavya Rao

1 joint publications

Kate Mowrey

1 joint publications

Scott V Dindot

Top Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on : Dec 01, 2017

Behavioral Characterization of an Angelman Syndrome Mouse Model

Behavioral Characterization of an Angelman Syndrome Mouse Model

Published on : Oct 20, 2023

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats

Published on : Nov 20, 2015

See more related videos

Top Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on : Dec 01, 2017

Behavioral Characterization of an Angelman Syndrome Mouse Model

Behavioral Characterization of an Angelman Syndrome Mouse Model

Published on : Oct 20, 2023

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats

Published on : Nov 20, 2015

See more related videos