Publications by authors named "Wayne Jepsen"

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Integration of Genome and Epigenetic Testing in the Diagnostic Evaluation of Developmental Delay: Differentiating Börjeson-Forssman-Lehmann (BFLS) and White-Kernohan (WHIKERS) Syndromes.
Keri Ramsey, Supraja Prakash, Jennifer Kerkhof, Bekim Sadikovic, Susan White, Wayne Jepsen

Genes (Basel)· August 2025

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Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the Gene.
Wayne M Jepsen, Andrew Fazenbaker, Keri Ramsey, Anna Bonfitto, Marcus Naymik

Int J Mol Sci· November 2024

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FGF12 copy number variant associated with epileptic encephalopathy.
Anna Abraham, Keri Ramsey, Newell Belnap, Szabolcs Szelinger, Wayne Jepsen

Clin Genet· July 2024

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Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: a novel gene variant.
Megumi Leung, Meredith Sanchez-Castillo, Newell Belnap, Marcus Naymik, Anna Bonfitto, Wayne M Jepsen

Rare· December 2023

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Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.
Eric Frankel, Avijit Podder, Megan Sharifi, Roshan Pillai, Newell Belnap, Wayne M Jepsen

Cells· May 2023

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Mutations in TAF8 cause a neurodegenerative disorder.
Keit Men Wong, Wayne M Jepsen, Stephanie Efthymiou, Vincenzo Salpietro, Meredith Sanchez-Castillo

Brain· September 2022

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Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations.
Keri Ramsey, Newell Belnap, Anna Bonfitto, Wayne Jepsen, Marcus Naymik

Mol Genet Genomic Med· February 2022

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() overexpression reduces APP processing and increases alpha- versus beta-secretase activity, .
Wayne M Jepsen, Matthew De Both, Ashley L Siniard, Keri Ramsey, Ignazio S Piras

Biol Open· January 2021

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Transcriptome Changes in the Alzheimer's Disease Middle Temporal Gyrus: Importance of RNA Metabolism and Mitochondria-Associated Membrane Genes.
Ignazio S Piras, Jonida Krate, Elaine Delvaux, Jennifer Nolz, Diego F Mastroeni, Wayne M Jepsen

J Alzheimers Dis· October 2020

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Telomere Length and Autism Spectrum Disorder Within the Family: Relationships With Cognition and Sensory Symptoms.
Candace R Lewis, Francis Taguinod, Wayne M Jepsen, Jorey Cohen, Komal Agrawal

Autism Res· July 2020

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Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
Lorida Llaci, Keri Ramsey, Newell Belnap, Ana M Claasen, Chris D Balak, Wayne M Jepsen

Hum Genet· December 2019

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Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Chris Balak, Marianne Benard, Elise Schaefer, Sumaiya Iqbal, Keri Ramsey, Wayne Jepsen

Am J Hum Genet· September 2019

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Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2.
Wayne M Jepsen, Keri Ramsey, Szabolcs Szelinger, Lorida Llaci, Chris Balak

Clin Genet· August 2019

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Common BACE2 Polymorphisms are Associated with Altered Risk for Alzheimer's Disease and CSF Amyloid Biomarkers in APOE ε4 Non-Carriers.
Matt Huentelman, Matthew De Both, Wayne Jepsen, Ignazio S Piras, Joshua S Talboom

Sci Rep· July 2019

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A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.
Chris Balak, Newell Belnap, Keri Ramsey, Shelagh Joss, Koen Devriendt, Wayne Jepsen

Am J Med Genet A· July 2018

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Exploring genome-wide DNA methylation patterns in Aicardi syndrome.
Ignazio S Piras, Gabrielle Mills, Lorida Llaci, Marcus Naymik, Keri Ramsey, Wayne M Jepsen

Epigenomics· November 2017

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