Publications by authors named "Steven Skinner"

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A novel approach to metabolic profiling in case models of MECP2-related disorders.
Jessica A Cooley Coleman, Bridgette A Moffitt, William C Bridges, Kelly Jones, Melanie May, Cindy Skinner, Steven A Skinner

Metab Brain Dis· February 2025

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MECP2 Variants in Males: More Common than Previously Appreciated.
Amitha Ananth, Cary Fu, Jeffrey L Neul, Tim Benke, Eric Marsh, Steven A Skinner

Pediatr Neurol· December 2024

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Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing.
Megan Abbott, Katie Angione, Emily Forbes, Mikayla Stoecker, Margarita Saenz, Steven A Skinner

Am J Med Genet A· October 2024

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Clinical Features and Disease Progression in Older Individuals with Rett Syndrome.
Jeffrey L Neul, Timothy A Benke, Eric D Marsh, Bernhard Suter, Cary Fu, Steven A Skinner

Genes (Basel)· August 2024

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Developmental milestones and daily living skills in individuals with Angelman syndrome.
Anjali Sadhwani, Sonya Powers, Anne Wheeler, Hillary Miller, Sarah Nelson Potter, Steven A Skinner

J Neurodev Disord· June 2024

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Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Jennifer Kerkhof, Cassandra Rastin, Michael A Levy, Raissa Relator, Haley McConkey, Steven A Skinner

Genet Med· May 2024

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MEF2C regulates NK cell effector functions through control of lipid metabolism.
Joey H Li, Adalia Zhou, Cassidy D Lee, Siya N Shah, Jeong Hyun Ji, Steven A Skinner

Nat Immunol· May 2024

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Author Correction: MEF2C regulates NK cell effector functions through control of lipid metabolism.
Joey H Li, Adalia Zhou, Cassidy D Lee, Siya N Shah, Jeong Hyun Ji, Steven A Skinner

Nat Immunol· May 2024

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Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome.
Jonathan K Merritt, Xiaolan Fang, Raymond C Caylor, Steven A Skinner, Michael J Friez

Genes (Basel)· May 2024

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Characterization of a Clinically and Biologically Defined Subgroup of Patients with Autism Spectrum Disorder and Identification of a Tailored Combination Treatment.
Laura Pérez-Cano, Luigi Boccuto, Francesco Sirci, Jose Manuel Hidalgo, Samuel Valentini, Cindy Skinner, Steven A Skinner

Biomedicines· April 2024

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Detection of Constitutional Structural Variants by Optical Genome Mapping: A Multisite Study of Postnatal Samples.
Ulrich Broeckel, M Anwar Iqbal, Brynn Levy, Nikhil Sahajpal, Peter L Nagy, Cindy Skinner, Steven A Skinner

J Mol Diagn· March 2024

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Parental age effects and Rett syndrome.
Xiaolan Fang, Lauren M Baggett, Raymond C Caylor, Alan K Percy, Jeffrey L Neul, Steven A Skinner

Am J Med Genet A· February 2024

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Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.
Jiyong Wang, Aidin Foroutan, Ellen Richardson, Steven A Skinner, Jack Reilly, Cindy Skinner

Eur J Hum Genet· December 2023

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An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
Annelise Y Mah-Som, Jil Daw, Diana Huynh, Mengcheng Wu, Benjamin C Creekmore, Steven A Skinner

Am J Hum Genet· November 2023

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Distribution of hand function by age in individuals with Rett syndrome.
Jeffrey L Neul, Tim A Benke, Eric D Marsh, Jane B Lane, David N Lieberman, Steven A Skinner

Ann Child Neurol Soc· September 2023

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Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
Dominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, Pelin Ozlem Simsek-Kiper, Sarah M Nikkel, Steven A Skinner

J Bone Miner Res· May 2023

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Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.
Jessica A Cooley Coleman, Jennifer M Gass, Sujata Srikanth, Rini Pauly, Catherine A Ziats, Steven A Skinner

Hum Mol Genet· April 2023

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Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases.
M Anwar Iqbal, Ulrich Broeckel, Brynn Levy, Steven Skinner, Nikhil S Sahajpal, Cindy Skinner

J Mol Diagn· March 2023

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DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
Jet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Michael A Levy, Steven A Skinner

Genet Med· January 2023

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Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
Julian Delanne, Magaly Lecat, Patrick R Blackburn, Eric W Klee, Constance T R M Stumpel, Steven A Skinner

Eur J Med Genet· January 2023

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Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Michael A Levy, Raissa Relator, Haley McConkey, Erinija Pranckeviciene, Jennifer Kerkhof, Steven A Skinner

Hum Mutat· November 2022

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Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.
Jessica A Cooley Coleman, Timothy Fee, Renee Bend, Raymond Louie, Fran Annese, Steven Skinner

Am J Med Genet A· October 2022

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Clinical findings from the landmark MEF2C-related disorders natural history study.
Jessica A Cooley Coleman, Sara M Sarasua, Hannah Warren Moore, Luigi Boccuto, Christopher W Cowan, Steven A Skinner

Mol Genet Genomic Med· June 2022

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Anthropometric Measures Correspond with Functional Motor Outcomes in Females with Rett Syndrome.
Kathleen J Motil, Suzanne Geerts, Fran Annese, Jeffrey L Neul, Tim Benke, Steven A Skinner

J Pediatr· May 2022

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