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Author Details

Stanley F Nelson
university of california los angeles
1993
291
95
PMIDPaper TitleJournal TitlePublished Year
36895955Characterization of spastic paraplegia in a family with a novel <i>PSEN1</i> mutation.Brain Commun2023
37576554Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD.Front Genet2023
37560121Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.Neurol Genet2023
36895955Characterization of spastic paraplegia in a family with a novel <i>PSEN1</i> mutation.Brain Commun2023
37013900De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.Genet Med2023
37066513RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.EMBO Mol Med2023
36798371Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.bioRxiv2023
36987811SATB1 Chromatin Loops Regulate Megakaryocyte/Erythroid Progenitor Expansion by Facilitating HSP70 and GATA1 Induction.Stem Cells2023
37560121Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.Neurol Genet2023
37576554Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD.Front Genet2023
36987811SATB1 Chromatin Loops Regulate Megakaryocyte/Erythroid Progenitor Expansion by Facilitating HSP70 and GATA1 Induction.Stem Cells2023
37013900De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.Genet Med2023
37066513RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.EMBO Mol Med2023
36798371Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.bioRxiv2023
35064218Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features.Nat Genet2022
35460833Downregulation of SATB1 by miRNAs reduces megakaryocyte/erythroid progenitor expansion in preclinical models of Diamond-Blackfan anemia.Exp Hematol2022
36240102Evaluating Genetic Modifiers of Duchenne Muscular Dystrophy Disease Progression Using Modeling and MRI.Neurology2022
35652444RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.Hum Mol Genet2022
36229431INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.Nat Commun2022
36123393Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue.Commun Biol2022
35465312Modeling Patient-Specific Muscular Dystrophy Phenotypes and Therapeutic Responses in Reprogrammed Myotubes Engineered on Micromolded Gelatin Hydrogels.Front Cell Dev Biol2022
35064218Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features.Nat Genet2022
35044823Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling.Sci Adv2022
35071363Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in <i>TSFM</i> Gene Causing Juvenile Hypertrophic Cardiomyopathy.Front Cardiovasc Med2022
35652444RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.Hum Mol Genet2022
35465312Modeling Patient-Specific Muscular Dystrophy Phenotypes and Therapeutic Responses in Reprogrammed Myotubes Engineered on Micromolded Gelatin Hydrogels.Front Cell Dev Biol2022
35460833Downregulation of SATB1 by miRNAs reduces megakaryocyte/erythroid progenitor expansion in preclinical models of Diamond-Blackfan anemia.Exp Hematol2022
36240102Evaluating Genetic Modifiers of Duchenne Muscular Dystrophy Disease Progression Using Modeling and MRI.Neurology2022
36229431INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.Nat Commun2022
36123393Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue.Commun Biol2022
35044823Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling.Sci Adv2022
35071363Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in <i>TSFM</i> Gene Causing Juvenile Hypertrophic Cardiomyopathy.Front Cardiovasc Med2022
33438828Expansion of NEUROD2 phenotypes to include developmental delay without seizures.Am J Med Genet A2021
33736665EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.Orphanet J Rare Dis2021
33783954Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.Am J Med Genet A2021
33441839Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin.Sci Rep2021
33438828Expansion of NEUROD2 phenotypes to include developmental delay without seizures.Am J Med Genet A2021
33361607Parent Project Muscular Dystrophy Females with Dystrophinopathy Conference, Orlando, Florida June 26 - June 27, 2019.J Neuromuscul Dis2021
34387706Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome.J Mol Med (Berl)2021
33736665EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.Orphanet J Rare Dis2021
33783954Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.Am J Med Genet A2021
34387706Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome.J Mol Med (Berl)2021
33361607Parent Project Muscular Dystrophy Females with Dystrophinopathy Conference, Orlando, Florida June 26 - June 27, 2019.J Neuromuscul Dis2021
33441839Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin.Sci Rep2021
32533200Gene-environment regulation of chamber-specific maturation during hypoxemic perinatal circulatory transition.J Mol Med (Berl)2020
31692161A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.Hum Mutat2020
31953255Ppp1r1b-lncRNA inhibits PRC2 at myogenic regulatory genes to promote cardiac and skeletal muscle development in mouse and human.RNA2020
32047287Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.Genet Med2020
32280589Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome.Mol Genet Metab Rep2020
32037607Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing.Neuropathology2020
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Collaborators

Timothy F Cloughesy
David Geffen School of Medicine, University of California Los Angeles
Co-authored papers 31
Zugen Chen
David Geffen School of Medicine, University of California los angeles
Co-authored papers 30
Paul S Mischel
Stanford University
Co-authored papers 27
Barry Merriman
David Geffen School of Medicine, University of California los angeles
Co-authored papers 27
Daniel H Geschwind
University of California los angeles
Co-authored papers 21
Joanna C Jen
university of california los angeles Medical School
Co-authored papers 19
Wayne W Grody
David Geffen School of Medicine, university of california los angeles
Co-authored papers 15
Steve Horvath
David Geffen School of Medicine, University of California los angeles
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Hakon Hakonarson
The Center for Applied Genomics, Children's Hospital of Philadelphia
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Anthony P Monaco
Monash University
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Christine M Freitag
Co-authored papers 9
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Michael Gill
Co-authored papers 9
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Massachusetts General Hospital
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Seattle Children's Hospital.
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Stephen W Scherer
The Hospital for Sick Children
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Shinya Yamamoto
Baylor College of Medicine, TX Jan and Dan Duncan Neurological Research Institute
Co-authored papers 6
H??lya Kayserili
Istanbul University
Co-authored papers 6
Hugo J Bellen
Baylor College of Medicine
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Michael F Wangler
Baylor College of Medicine
Co-authored papers 6
Joseph D Buxbaum
Icahn School of Medicine at Mount Sinai
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Andreas Reif
University Hospital Frankfurt am Main
Co-authored papers 5
Eftichia Duketis
Co-authored papers 5
Gerard D Schellenberg
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Sabine M Klauck
Co-authored papers 5
Edwin H Cook
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Agatino Battaglia
Co-authored papers 5
Marion Leboyer
INSERM U
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Release 1.2