Publications by authors named "Raymond Caylor"

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Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development.
Xiaoxia Peng, Xiangbin Jia, Hanying Wang, Jingjing Chen, Xiaolei Zhang, Raymond Caylor

J Clin Invest· November 2025

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A primer on regulation of laboratory-developed testing procedures: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Marco L Leung, Raymond C Caylor, Olivia D'Annibale, Michelle McClure, TaraChandra Narumanchi

Genet Med· June 2025

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Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.
Michelle Hua, Mohamad-Reza Aghanoori, Melissa MacPherson, Yi Ren, Yifan Yang, Raymond Caylor

medRxiv· June 2025

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RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.
Mariagrazia Talarico, Julitta de Bellescize, Matthias De Wachter, Xavier Le Guillou, Guylène Le Meur, Raymond C Caylor

Genet Med· April 2025

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

Am J Med Genet A· February 2024

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Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy.
Sadegheh Haghshenas, Aidin Foroutan, Pratibha Bhai, Michael A Levy, Raissa Relator, Raymond C Caylor

Eur J Hum Genet· August 2023

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Clinical case report: mosaic pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay.
Xiaolan Fang, Timothy Fee, Jessica Davis, Elliot S Stolerman, Raymond C Caylor

Cold Spring Harb Mol Case Stud· June 2023

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Nonrandom X Chromosome Inactivation Detection.
Raymond C Caylor

Curr Protoc· April 2023

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Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.
Stacey R McGee, Shivakumar Rajamanickam, Sandeep Adhikari, Oluwatosin C Falayi, Theresa A Wilson, Raymond C Caylor

Hum Mol Genet· January 2023

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Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Richard H van Jaarsveld, Jack Reilly, Marie-Claire Cornips, Michael A Hadders, Emanuele Agolini, Raymond C Caylor

Genet Med· January 2023

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De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Yoeri Sleyp, Irene Valenzuela, Andrea Accogli, Katleen Ballon, Bruria Ben-Zeev, Raymond C Caylor

Genet Med· December 2022

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Neuropathologic Findings in Galloway-Mowat Syndrome 3 With a Novel OSGEP Variant.
Tiffany Baker, Raymond Caylor, Jiyong Wang, Matthew Kilpatrick, Nicholas Batalis

J Neuropathol Exp Neurol· October 2022

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Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Xiaolan Fang, Kameryn M Butler, Fatima Abidi, Jennifer Gass, Arthur Beisang, Raymond C Caylor

Mol Genet Genomic Med· May 2022

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HSD10 disease in a female: A case report and review of literature.
Jariya Upadia, Nicolette Walano, Grace S Noh, Jiao Liu, Yuwen Li, Raymond C Caylor

JIMD Rep· November 2021

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Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked variant.
Tonya Moss, Melanie May, Heather Flanagan-Steet, Raymond Caylor, Yong-Hui Jiang

Cold Spring Harb Mol Case Stud· June 2021

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Clinical genome sequencing in an unbiased pediatric cohort.
Isabelle Thiffault, Emily Farrow, Lee Zellmer, Courtney Berrios, Neil Miller, Raymond Caylor

Genet Med· February 2019

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On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing.
Isabelle Thiffault, Maxime Cadieux-Dion, Emily Farrow, Raymond Caylor, Neil Miller

Hum Mutat· November 2018

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The Caenorhabditis elegans voltage-gated calcium channel subunits UNC-2 and UNC-36 and the calcium-dependent kinase UNC-43/CaMKII regulate neuromuscular junction morphology.
Raymond C Caylor, Yishi Jin, Brian D Ackley

Neural Dev· May 2013

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