Publications by authors named "Steve Skinner"

Claim this Profile
I
Identification of an episignature for the MEF2C-associated syndrome.
Ananília Silva, Sadegheh Haghshenas, Liselot van der Laan, Michael A Levy, Raissa Relator, Steve A Skinner

Eur J Hum Genet· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mental health professionals and telehealth in a rural setting: a cross sectional survey.
David Nelson, Maxime Inghels, Amanda Kenny, Steve Skinner, Tracy McCranor

BMC Health Serv Res· February 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Xiaolan Fang, Kameryn M Butler, Fatima Abidi, Jennifer Gass, Arthur Beisang, Steve Skinner

Mol Genet Genomic Med· May 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study.
Caroline B Buchanan, Jennifer L Stallworth, Aubin E Joy, Rebekah E Dixon, Alexandra E Scott, Steve A Skinner

J Neurodev Disord· May 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The development of highly potent and selective small molecule correctors of Z α-antitrypsin misfolding.
John Liddle, Andrew C Pearce, Christopher Arico-Muendel, Svetlana Belyanskaya, Andrew Brewster, Steve Skinner

Bioorg Med Chem Lett· June 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Development of a small molecule that corrects misfolding and increases secretion of Z α -antitrypsin.
David A Lomas, James A Irving, Christopher Arico-Muendel, Svetlana Belyanskaya, Andrew Brewster, Steve Skinner

EMBO Mol Med· March 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Phenotypic features in MECP2 duplication syndrome: Effects of age.
Sarika U Peters, Cary Fu, Eric D Marsh, Tim A Benke, Bernard Suter, Steve A Skinner

Am J Med Genet A· February 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndrome.
Addison Neighbors, Tonya Moss, Lynda Holloway, Seok-Ho Yu, Fran Annese, Steve Skinner

Mol Genet Genomic Med· March 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
Sarika U Peters, Cary Fu, Bernhard Suter, Eric Marsh, Timothy A Benke, Steve A Skinner

Clin Genet· May 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors.
John T Killian, Jane B Lane, Hye-Seung Lee, Steve A Skinner, Walter E Kaufmann

Pediatr Neurol· May 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Assessment of Caregiver Inventory for Rett Syndrome.
Jane B Lane, Amber R Salter, Nancy E Jones, Gary Cutter, Joseph Horrigan, Steve A Skinner

J Autism Dev Disord· April 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Importance of genetic testing in global health during the evaluation of familial microcephaly.
Isaac Molinero, Jordan Broman-Fulks, Michael J Lyons, Maria Gisele Matheus, Alka Chaubey, Steve A Skinner

Clin Case Rep· October 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.
Alexej Knaus, Tomonari Awaya, Ingo Helbig, Zaid Afawi, Manuela Pendziwiat, Steve Skinner

Hum Mutat· August 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Discovery and Characterization of a Class of Pyrazole Inhibitors of Bacterial Undecaprenyl Pyrophosphate Synthase.
Nestor Concha, Jianzhong Huang, Xiaopeng Bai, Andrew Benowitz, Pat Brady, Steve R Skinner

J Med Chem· August 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors.
John T Killian, Jane B Lane, Hye-Seung Lee, James H Pelham, Steve A Skinner

Pediatr Neurol· May 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mucolipidosis type IV: a subtle pediatric neurodegenerative disorder.
Joseph S Geer, Steve A Skinner, Ehud Goldin, Kenton R Holden

Pediatr Neurol· March 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Longevity in Rett syndrome: analysis of the North American Database.
Russell S Kirby, Jane B Lane, Jerry Childers, Steve A Skinner, Fran Annese

J Pediatr· January 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Rett syndrome: North American database.
Alan K Percy, Jane B Lane, Jerry Childers, Steve Skinner, Fran Annese

J Child Neurol· December 2007

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Neuroprotection by encapsulated choroid plexus in a rodent model of Huntington's disease.
Cesario V Borlongan, Steve J M Skinner, Marilyn Geaney, Alfred V Vasconcellos, Robert B Elliott

Neuroreport· November 2004

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Intracerebral transplantation of porcine choroid plexus provides structural and functional neuroprotection in a rodent model of stroke.
Cesar V Borlongan, Steve J M Skinner, Marilyn Geaney, Alfred V Vasconcellos, Robert B Elliott

Stroke· September 2004

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Does chromosome 22 have anything to do with sex determination: further studies on a 46,XX,22q11.2 del male.
Robert P Erickson, Steve Skinner, Hélène Jacquet, Dominique Campion, Patrick G Buckley

Am J Med Genet A· November 2003

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis