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List of works by Rabi Tawil

171st ENMC International Workshop: Standards of care and management of facioscapulohumeral muscular dystrophy

scientific article published on 01 July 2010

A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy

scientific article

A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy

scientific article

A unifying genetic model for facioscapulohumeral muscular dystrophy

scientific article

An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients

scientific article (publication date: October 2007)

Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei.

scientific article

Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production.

scientific article

BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells.

scientific article published on 4 September 2017

Chromosome 10q-linked FSHD identifies <i>DUX4</i> as principal disease gene

scientific article published in 2021

Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2

scientific article published on 01 October 2018

Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29-30 May 2015, Rochester, New York

scientific article

Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study

scientific article published on 10 September 2019

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

scientific article

Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level

scientific article

Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.

scientific article

Corrigendum. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

scientific article published on February 2016

DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD.

scientific article published on 3 June 2015

DNaseI hypersensitivity at gene-poor, FSH dystrophy-linked 4q35.2

scientific article

DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy.

scientific article

DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis

scientific article

DUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophy

scientific article

DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle

scientific article

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.

scientific article published on 21 November 2017

Diagnostic odyssey of patients with myotonic dystrophy

scientific article

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

scientific article (publication date: 11 November 2012)

Drug treatment for facioscapulohumeral muscular dystrophy

scientific article

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation

scientific article published on 06 July 2018

Facioscapulohumeral Dystrophy

scientific article

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

scientific article

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology

scientific article

Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence

scientific article

Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation

scientific article

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)

scientific article

Gene expression during normal and FSHD myogenesis ⬇️

scientific article published on September 27, 2011

Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients

scientific article published on 28 August 2019

Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD

scientific article

Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs

scientific article published on 24 June 2014

Grip force, EDL contractile properties, and voluntary wheel running after postdevelopmental myostatin depletion in mice

scientific article

Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome

scientific article published on 20 May 2015

If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD) ⬇️

scientific article published on November 26, 2011

Immunohistochemical Characterization of Facioscapulohumeral Muscular Dystrophy Muscle Biopsies

scientific article

Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

scientific article published on 17 November 2015

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. ⬇️

scientific article

Interferon-alpha/beta-mediated innate immune mechanisms in dermatomyositis

scientific article (publication date: May 2005)

Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD

scientific article

Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing

scientific article published on 01 November 2019

MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD

article

Management and treatment of Andersen-Tawil syndrome (ATS).

scientific article

Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats

scientific article

Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells

scientific article

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

scientific article published on 21 March 2018

Multiplex Screen of Serum Biomarkers in Facioscapulohumeral Muscular Dystrophy

scientific article

Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies

scientific article

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

scientific article published on May 2016

Patient‐identified disease burden in facioscapulohumeral muscular dystrophy ⬇️

scientific article published on December 1, 2012

Prospective cohort study of spinal muscular atrophy types 2 and 3.

scientific article

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

scientific article (publication date: 9 April 2009)

Restrictive lung involvement in facioscapulohumeral muscular dystrophy

scientific article

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain

scientific article published on 26 June 2019

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes

scientific article published on 6 June 2017

Sex-related differences in gene expression in human skeletal muscle

scientific article

Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development

scientific article published on 01 April 2019

Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei

scientific article published on 04 May 2020

Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model

scientific article

Splicing biomarkers of disease severity in myotonic dystrophy

scientific article

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

scientific article (publication date: October 2013)

Validation of the Expanded Hammersmith Functional Motor Scale in Spinal Muscular Atrophy Type II and III ⬇️

scientific article published on September 21, 2011

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