R. Weiss

Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy
202233 citationsauthor #22
Candidate gene modifiers of dystrophinopathy identified by the uniform application of genome-wide datasets to novel GWAS-identified loci
20212 citationsauthor #12
Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders.
20212 citationsauthor #6
Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications
202110 citationsauthor #4
Core Transcriptional Networks in Williams Syndrome: IGF1-PI3K-AKT-mTOR, MAPK and Actin Signaling at the Synapse Echo Autism.
20217 citationsauthor #2
Incipient genome erosion and metabolic streamlining for antibiotic production in a defensive symbiont
202117 citationsauthor #10
Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program
2021109 citationsauthor #9
Absence of Significant Off-Target Splicing Variation with a U7snRNA Vector Targeting DMD Exon 2 Duplications
202114 citationsauthor #6
Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review
202020 citationsauthor #10
X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation
202018 citationsauthor #3
P.140RNA-Seq shows an absence of off-target splicing effects in AAV9-U7snRNA mediated skipping of DMD exon 2
20192 citationsauthor #5
Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
201918 citationsauthor #19
P.36Genetic prevalence of myotonic dystrophy type 1: a population cohort study
20190 citationsauthor #6
Genetic Prevalence of Myotonic Dystrophy Type 1 (S23.003)
20196 citationsauthor #7
Low‐level expression of EPG5 leads to an attenuated Vici syndrome phenotype
201811 citationsauthor #6
The role of nicotinic receptor genes (CHRN) in the pathways of prenatal tobacco exposure on smoking behavior among young adult light smokers.
20184 citationsauthor #3
Lung eosinophilia induced by house dust mites or ovalbumin is modulated by nicotinic receptor α7 and inhibited by cigarette smoke.
201810 citationsauthor #4
A genome-wide association study for mastitis resistance in phenotypically well-characterized Holstein dairy cattle using a selective genotyping approach
201851 citationsauthor #3
Complex signatures of natural selection at GYPA
201818 citationsauthor #4
Long‐range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy
201847 citationsauthor #1
Low-level dystrophin expression attenuating the dystrophinopathy phenotype.
201724 citationsauthor #5
Low‐Level Dystrophin Expression Attenuating the Dystrophinopathy Phenotype
20170 citationsauthor #3
Nicotinic alpha 7 receptor expression and modulation of the lung epithelial response to lipopolysaccharide
201733 citationsauthor #4
Lung epithelial response to cigarette smoke and modulation by the nicotinic alpha 7 receptor
201718 citationsauthor #4
Cardiac muscle function across the natural history of a genetic minipig model of hypertrophic cardiomyopathy
20172 citationsauthor #4
Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy
201716 citationsauthor #6
Beware the laboratory report: discrepancy in variant classification on reproductive carrier screening
20176 citationsauthor #3
Adaptation by Deletogenic Replication Slippage in a Nascent Symbiont
201625 citationsauthor #3
Disease-Specific Splicing Changes Are Seen in Children with Congenital Myotonic Dystrophy (S36.003)
20160 citationsauthor #6
Classification Tree Analysis as a Method for Uncovering Relations Between CHRNA5A3B4 and CHRNB3A6 in Predicting Smoking Progression in Adolescent Smokers
20169 citationsauthor #3
CYP2A6 Effects on Subjective Reactions to Initial Smoking Attempt.
20162 citationsauthor #6
Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.
201668 citationsauthor #3
CYP2A6 Longitudinal Effects in Young Smokers.
201611 citationsauthor #9
Identification of Splicing Changes in the Blood and Muscle in Congenital Myotonic Dystrophy (P4.110)
20150 citationsauthor #6
Association of the OPRM1 Variant rs1799971 (A118G) with Non-Specific Liability to Substance Dependence in a Collaborative de novo Meta-Analysis of European-Ancestry Cohorts
2015109 citationsauthor #108
G.P.357 - Early expression of ΔCH1 dystrophin isoform reverses or prevents muscular dystrophy in the Dup2 mouse
20150 citationsauthor #9
Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.
2015138 citationsauthor #130
Erratum: A next-generation dual-recombinase system for time- and host-specific targeting of pancreatic cancer
201511 citationsauthor #19
Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability
201535 citationsauthor #20
Erratum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice: (Nature Medicine (2014) 20 (992-1000) DOI:10.1038/nm.3628)
20155 citationsauthor #22
Correction: Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice
20151 citationsauthor #19
Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45
201547 citationsauthor #18
60. Intramuscular and Systemic Induction of the N-Truncated Dystrophin By Out-Of-Frame Exon 2 Skipping Restores Muscle Function in the Dup2 Mouse, Providing Further Support for a Therapeutic Pathway for 5’ DMD Mutations
20150 citationsauthor #8
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice
201480 citationsauthor #22
Successful use of Out-of-Frame Exon 2 Skipping induces IRES-Driven expression of the N-Truncated dystrophin isoform: promising approach for treating other 5 ' Dystrophin Mutations
20140 citationsauthor #17
Genome Degeneration and Adaptation in a Nascent Stage of Symbiosis
2014196 citationsauthor #15
Peroxinectin catalyzed dityrosine crosslinking in the adhesive underwater silk of a casemaker caddisfly larvae, Hysperophylax occidentalis.
201451 citationsauthor #3
Association of the CHRNA4 Neuronal Nicotinic Receptor Subunit Gene with Frequency of Binge Drinking in Young Adults
201418 citationsauthor #6
Gut microbes of mammalian herbivores facilitate intake of plant toxins.
2014304 citationsauthor #2
Effect of neuronal nicotinic acetylcholine receptor genes (CHRN) on longitudinal cigarettes per day in adolescents and young adults.
201421 citationsauthor #9
A novel DMD IRES results in a functional N-truncated dystrophin, providing a potential route to therapy for patients with 5’ mutations
201429 citationsauthor #19
Distinct Loci in the CHRNA5/CHRNA3/CHRNB4 Gene Cluster Are Associated With Onset of Regular Smoking
201335 citationsauthor #123
Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2.
20139 citationsauthor #5
Developing and mature human granulocytes express ELP 6 in the cytoplasm
20131 citationsauthor #7
LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy
2013222 citationsauthor #18
Self-tensioning aquatic caddisfly silk: Ca2+-dependent structure, strength, and load cycle hysteresis.
201369 citationsauthor #3
Position of Glycine Substitutions in the Triple Helix of COL6A1, COL6A2, and COL6A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies
201393 citationsauthor #12
Interplay of genetic risk factors (CHRNA5-CHRNA3-CHRNB4) and cessation treatments in smoking cessation success.
2012152 citationsauthor #11
Genome-wide association study of Tourette Syndrome
2012119 citationsauthor #63
Accelerated Evolution of Mitochondrial but Not Nuclear Genomes of Hymenoptera: New Evidence from Crabronid Wasps
201262 citationsauthor #4
A Novel Human-Infection-Derived Bacterium Provides Insights into the Evolutionary Origins of Mutualistic Insect–Bacterial Symbioses
2012144 citationsauthor #7
Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers.
201280 citationsauthor #150
isk Fac to rs ( CHRNA 5-CHRNA 3-CHRNB 4 ) and Ce ssa
20120 citationsauthor #12
Evidence‐based path to newborn screening for duchenne muscular dystrophy
2012732 citationsauthor #19
Translation Goes Global
201118 citationsauthor #1
Clinical and genetic characterization of manifesting carriers of DMD mutations.
2010164 citationsauthor #24
Response to Letter by Yilmaz et al Regarding Article, “Analysis of Dystrophin Deletion Mutations Predicts Age of Cardiomyopathy Onset in Becker Muscular Dystrophy”
20102 citationsauthor #8
Multiple Independent Loci at Chromosome 15q25.1 Affect Smoking Quantity: a Meta-Analysis and Comparison with Lung Cancer and COPD
2010411 citationsauthor #41
Human neuronal acetylcholine receptor A5-A3-B4 haplotypes are associated with multiple nicotine dependence phenotypes.
2009137 citationsauthor #2
DMD exon 1 truncating point mutations: Amelioration of phenotype by alternative translation initiation in exon 6
200971 citationsauthor #3
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort
2009303 citationsauthor #27
Sequence alterations in the YBX2 gene are associated with male factor infertility.
200938 citationsauthor #4
Interval-Specific Congenic Lines Reveal Quantitative Trait Loci with Penetrant Lyme Arthritis Phenotypes on Chromosomes 5, 11, and 12
200919 citationsauthor #6
EM.P.4.06 Autosomal recessive inheritance of classic Bethlem myopathy
20090 citationsauthor #3
Analysis of Dystrophin Deletion Mutations Predicts Age of Cardiomyopathy Onset in Becker Muscular Dystrophy
2009149 citationsauthor #7
DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.
200949 citationsauthor #16
A Candidate Gene Approach Identifies the CHRNA5-A3-B4 Region as a Risk Factor for Age-Dependent Nicotine Addiction
2008286 citationsauthor #1
DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy
2008108 citationsauthor #7
and Ivor mice infor protein aggregation R 120 GCryAB cardiomyopathy Global expression profiling identifies a novel biosignature
20080 citationsauthor #4
Down-regulation of hepcidin in porphyria cutanea tarda.
200843 citationsauthor #3
From genetics to mechanism of disease liability.
200810 citationsauthor #3
Global expression profiling identifies a novel biosignature for protein aggregation R120GCryAB cardiomyopathy in mice.
200825 citationsauthor #4
Identification of gene variability within the contrin gene of azoospermic patients
20070 citationsauthor #4
HAMP and HVJ as Candidate Modifier Genes in Type1 Hereditary Hemochromatosis with High Iron Burden and in Porphyria Cutanea Tarda (PCT).
20060 citationsauthor #3
Altered localization of CXCL13 expressing cells in mice deficient in Pactolus following an inflammatory stimulus
200611 citationsauthor #4
Bb2Bb3 regulation of murine Lyme arthritis is distinct from Ncf1 and independent of the phagocyte nicotinamide adenine dinucleotide phosphate oxidase.
200517 citationsauthor #9
Possible association between autism and variants in the brain‐expressed tryptophan hydroxylase gene (TPH2)
200593 citationsauthor #9
Further evidence of a quantitative trait locus on chromosome 18 influencing postural change in systolic blood pressure: the Hypertension Genetic Epidemiology Network (HyperGEN) Study.
200538 citationsauthor #10
Pattern of sequence variation across 213 environmental response genes.
2004187 citationsauthor #9
Nonsense suppression in aminoacyl-t-RNA limited cells
20044 citationsauthor #3
TXNIP gene not associated with familial combined hyperlipidemia in the NHLBI Family Heart Study.
200424 citationsauthor #7
Sequence features of Oxytricha trifallax (class Spirotrichea) macronuclear telomeric and subtelomeric sequences.
200428 citationsauthor #3
Mouse strain‐specific nicotinic acetylcholine receptor expression by inhibitory interneurons and astrocytes in the dorsal hippocampus
200486 citationsauthor #4
Genome sequence of the Brown Norway rat yields insights into mammalian evolution
20042,125 citationsauthor #49
Bethlem and Ullrich patients with splice site mutations in COL6A1, 2 and 3
20040 citationsauthor #8
Rapid direct sequence analysis of the dystrophin gene.
2003195 citationsauthor #6
Rapid direct sequence analysis of the three genes encoding collagen VI
20030 citationsauthor #15
Replication of Chimeric Human Immunodeficiency Virus Type 1 (HIV-1) Containing HIV-2 Integrase (IN): Naturally Selected Mutations in IN Augment DNA Synthesis
200322 citationsauthor #5
Sequencing the Oxytricha trifallax macronuclear genome: a pilot project.
200342 citationsauthor #5
A strong signature of balancing selection in the 5′ cis-regulatory region of CCR5
2002197 citationsauthor #10

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