Publications by authors named "Stanley Nelson"

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Heart Transplantation and Ventricular Assist Device in Duchenne Muscular Dystrophy: A New Era.
David N Rosenthal, Antonio Amodeo, Russell J Butterfield, Ryan Butts, Stephen Chrzanowski, Stanley Nelson

Pediatr Transplant· January 2026

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ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.
Rhys Dore, Chu-Ting Chang, Amber Declève, Gloria Brunori, W Grant Ludlam, Stanley F Nelson

Genet Med· September 2025

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Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
Shilpa Nadimpalli Kobren, Mikhail A Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Stanley F Nelson

Nat Commun· August 2025

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Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2.
Kathie J Ngo, Darice Y Wong, Alden Y Huang, Hane Lee, Stanley F Nelson

Mol Med· May 2025

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The Genetic Architecture of Congenital Diarrhea and Enteropathy.
Zeenat Gaibee, Neil Warner, Katlynn Bugda Gwilt, Wenjuan Li, Rei Guan, Stanley F Nelson

N Engl J Med· April 2025

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Real-world treatment and health care utilization among patients with Duchenne muscular dystrophy by race and ethnicity in a Medicaid population.
Nathaniel Posner, Janna Manjelievskaia, Anna K Talaga, Megan Richards, Carolyn R Lew, Stanley F Nelson

J Manag Care Spec Pharm· February 2025

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Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.
Lucy McNamee, Kelly Schoch, Alden Huang, Hane Lee, Lee-Kai Wang, Stanley F Nelson

Am J Med Genet A· November 2024

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Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
Yue Huang, Kristy L Jay, Alden Yen-Wen Huang, Jijun Wan, Sharayu V Jangam, Stanley F Nelson

Genet Med· November 2024

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Alpha-1 Antitrypsin Deficiency in a Young Never Smoker With Novel Pi*Null Homozygous Mutation: a Case Report.
Igor Z Barjaktarevic, Andrew W Hong, Alyssa Hoover, Stanley Nelson, Said Isse

Chronic Obstr Pulm Dis· November 2024

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Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.
Marie Morimoto, Eunjin Ryu, Benjamin J Steger, Abhijit Dixit, Yoshihiko Saito, Stanley F Nelson

Am J Hum Genet· September 2024

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Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
Shilpa Nadimpalli Kobren, Mikhail A Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Stanley F Nelson

bioRxiv· August 2024

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High-Throughput Genomics Identify Novel Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.
Gloria K E Zodanu, John H Hwang, Zubin Mehta, Carlos Sisniega, Alexander Barsegian, Stanley F Nelson

Int J Mol Sci· May 2024

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The spectrum of heart defects in the -related multiple congenital anomalies-intellectual disability syndrome.
Elise Pisan, Chiara De Luca, Francesco Brancati, Rossana Sanchez Russo, Dong Li, Stanley Nelson

Proc Natl Acad Sci U S A· March 2024

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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Lauren Jeffries, Emily K Mis, Kirsty McWalter, Sandra Donkervoort, Nina N Brodsky, Stanley Nelson

Genet Med· February 2024

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Genetic variants in contribute to Autism Spectrum Disorder associated with the Xp22.11 locus.
Marcello Scala, Clarrisa A Bradley, Jennifer L Howe, Brett Trost, Nelson Bautista Salazar, Stanley F Nelson

medRxiv· December 2023

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Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.
Andrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, Lee-Kai Wang, Ulrike Schwarze, Stanley F Nelson

Neurol Genet· October 2023

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Elucidation of bioinformatic-guided high-prospect drug repositioning candidates for DMD via Swanson linking of target-focused latent knowledge from text-mined categorical metadata.
J Wes Ulm, Florian Barthélémy, Stanley F Nelson

Front Cell Dev Biol· August 2023

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Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD.
Shirley Nieves-Rodriguez, Florian Barthélémy, Jeremy D Woods, Emilie D Douine, Richard T Wang, Stanley F Nelson

Front Genet· July 2023

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SATB1 Chromatin Loops Regulate Megakaryocyte/Erythroid Progenitor Expansion by Facilitating HSP70 and GATA1 Induction.
Mark C Wilkes, Hee-Don Chae, Vanessa Scanlon, Alma-Martina Cepika, Ethan P Wentworth, Stanley F Nelson

Stem Cells· June 2023

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De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.
Jonathan C Andrews, Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia Tifft, Stanley F Nelson

Genet Med· June 2023

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RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.
Samantha Wong, Yu Xuan Tan, Abigail Yi Ting Loh, Kiat Yi Tan, Hane Lee, Stanley F Nelson

EMBO Mol Med· May 2023

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Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.
Andrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, Lee-Kai Wang, Ulrike Schwarze, Stanley F Nelson

bioRxiv· February 2023

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Characterization of spastic paraplegia in a family with a novel mutation.
John M Ringman, Naghmeh Dorrani, Sara Gutiérrez Fernández, Rebecca Signer, Julian Martinez-Agosto, Stanley Nelson

Brain Commun· February 2023

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Evaluating Genetic Modifiers of Duchenne Muscular Dystrophy Disease Progression Using Modeling and MRI.
Alison M Barnard, David W Hammers, William T Triplett, Sarah Kim, Sean C Forbes, Stanley F Nelson

Neurology· November 2022

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