Published in Ann Neurol on December 17, 2014
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth. Orphanet J Rare Dis (2015) 0.95
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. CMAJ (2016) 0.92
RNAseq analysis for the diagnosis of muscular dystrophy. Ann Clin Transl Neurol (2015) 0.90
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med (2017) 0.87
Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care. Mol Genet Genomic Med (2016) 0.81
Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients. Hum Genomics (2015) 0.80
Limb-girdle muscular dystrophies - international collaborations for translational research. Nat Rev Neurol (2016) 0.79
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy. J Neurol (2016) 0.79
Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis. J Neuromuscul Dis (2015) 0.78
The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and management. Appl Clin Genet (2015) 0.78
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. Orphanet J Rare Dis (2016) 0.77
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. Neurology (2016) 0.77
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet (2016) 0.75
Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features - a case report. BMC Med Genet (2016) 0.75
Systematic review of autosomal recessive ataxias and proposal for a classification. Cerebellum Ataxias (2017) 0.75
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. PLoS One (2017) 0.75
Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing. PLoS One (2017) 0.75
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies. Hum Genomics (2016) 0.75
Diagnostic NGS for Severe Neuromuscular Disorders. Pediatr Neurol Briefs (2015) 0.75
The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient Care. Acad Pathol (2017) 0.75
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med (2008) 9.13
ACMG clinical laboratory standards for next-generation sequencing. Genet Med (2013) 5.30
Human mesenchymal stem cells modulate B-cell functions. Blood (2005) 5.12
Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med (2012) 4.04
Assuring the quality of next-generation sequencing in clinical laboratory practice. Nat Biotechnol (2012) 3.62
Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol (2003) 3.46
Direct intrabone transplant of unrelated cord-blood cells in acute leukaemia: a phase I/II study. Lancet Oncol (2008) 2.70
GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet (2005) 2.63
In vivo activity of nuclease-resistant siRNAs. RNA (2004) 2.33
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. Neuromuscul Disord (2007) 2.03
Usefulness and limitations of 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy in the aetiological diagnosis of amyloidotic cardiomyopathy. Eur J Nucl Med Mol Imaging (2010) 1.98
Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types. Circulation (2009) 1.93
Secondary autoimmune diseases occurring after HSCT for an autoimmune disease: a retrospective study of the EBMT Autoimmune Disease Working Party. Blood (2011) 1.89
Unmanipulated haploidentical bone marrow transplantation and posttransplantation cyclophosphamide for hematologic malignancies after myeloablative conditioning. Biol Blood Marrow Transplant (2012) 1.89
Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-up. Muscle Nerve (2012) 1.88
College of American Pathologists' laboratory standards for next-generation sequencing clinical tests. Arch Pathol Lab Med (2014) 1.84
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol (2010) 1.80
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. Eur Heart J (2012) 1.77
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. Proc Natl Acad Sci U S A (2007) 1.74
Boost of CD34+-selected peripheral blood cells without further conditioning in patients with poor graft function following allogeneic stem cell transplantation. Haematologica (2006) 1.73
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. Proc Natl Acad Sci U S A (2008) 1.59
Repeated courses of granulocyte colony-stimulating factor in amyotrophic lateral sclerosis: clinical and biological results from a prospective multicenter study. Muscle Nerve (2011) 1.54
Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets. PLoS One (2013) 1.44
Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies. Muscle Nerve (2014) 1.41
Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea. Neurol India (2006) 1.39
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet (2012) 1.38
Preclinical PK and PD studies on 2'-O-methyl-phosphorothioate RNA antisense oligonucleotides in the mdx mouse model. Mol Ther (2010) 1.32
Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. Hum Mutat (2013) 1.32
Human mesenchymal stem cells promote survival of T cells in a quiescent state. Stem Cells (2007) 1.31
Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene. Genomics (2002) 1.30
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. Hum Mol Genet (2012) 1.29
Blood stream infections in allogeneic hematopoietic stem cell transplant recipients: reemergence of Gram-negative rods and increasing antibiotic resistance. Biol Blood Marrow Transplant (2009) 1.25
Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies. Neuromuscul Disord (2010) 1.24
Aspergillus galactomannan antigen in the cerebrospinal fluid of bone marrow transplant recipients with probable cerebral aspergillosis. J Clin Microbiol (2002) 1.22
Role of (99m)Tc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis. JACC Cardiovasc Imaging (2011) 1.19
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials. Brain (2011) 1.17
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. Neurology (2012) 1.17
Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy. PLoS One (2013) 1.16
Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation. Genet Med (2011) 1.15
Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome. Genet Epidemiol (2010) 1.14
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. BMC Genomics (2008) 1.11
Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications. Genet Med (2009) 1.10
DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. Am J Hum Genet (2012) 1.09
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. Hum Mol Genet (2009) 1.09
Reducing transplant-related mortality after allogeneic hematopoietic stem cell transplantation. Haematologica (2004) 1.08
CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome. Am J Med Genet A (2006) 1.07
Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations. BMC Genet (2013) 1.06
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse. Mol Ther (2009) 1.04
Linkage disequilibrium mapping in trisomic populations: analytical approaches and an application to congenital heart defects in Down syndrome. Genet Epidemiol (2004) 1.03
Novel approach to meta-analysis of microarray datasets reveals muscle remodeling-related drug targets and biomarkers in Duchenne muscular dystrophy. PLoS Comput Biol (2012) 1.02
Translational and regulatory challenges for exon skipping therapies. Hum Gene Ther (2014) 1.02
Congenital muscular dystrophies: a brief review. Semin Pediatr Neurol (2011) 1.02
Accurate quantification of dystrophin mRNA and exon skipping levels in duchenne muscular dystrophy. Lab Invest (2010) 1.01
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. Am J Hum Genet (2012) 1.01
Transplant-related mortality and long-term graft function are significantly influenced by cell dose in patients undergoing allogeneic marrow transplantation. Blood (2002) 1.01
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. Hum Mutat (2014) 0.99
Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis. Matrix Biol (2011) 0.99
Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21. Hum Genet (2011) 0.99
Rituximab treatment for Epstein-Barr virus DNAemia after alternative-donor hematopoietic stem cell transplantation. Biol Blood Marrow Transplant (2010) 0.98
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. Hum Mol Genet (2013) 0.98
Leukaemia relapse after allogeneic transplants for acute myeloid leukaemia: predictive role of WT1 expression. Br J Haematol (2013) 0.98
Early neurodevelopmental assessment in Duchenne muscular dystrophy. Neuromuscul Disord (2013) 0.97
Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx mice. J Biomed Biotechnol (2012) 0.97
Nanoparticle delivery of antisense oligonucleotides and their application in the exon skipping strategy for Duchenne muscular dystrophy. Nucleic Acid Ther (2014) 0.97
Natural history of pulmonary function in collagen VI-related myopathies. Brain (2013) 0.97
Diagnostic work-up and risk stratification in X-linked dilated cardiomyopathies caused by dystrophin defects. J Am Coll Cardiol (2011) 0.96
Galactomannan testing might be useful for early diagnosis of fusariosis. Diagn Microbiol Infect Dis (2012) 0.96
Autologous HSCT for severe progressive multiple sclerosis in a multicenter trial: impact on disease activity and quality of life. Blood (2004) 0.95
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies. BMC Med Genet (2010) 0.95
Exon skipping-mediated dystrophin reading frame restoration for small mutations. Hum Mutat (2009) 0.94
Expression of the collagen VI α5 and α6 chains in normal human skin and in skin of patients with collagen VI-related myopathies. J Invest Dermatol (2010) 0.93
Smarter clustering methods for SNP genotype calling. Bioinformatics (2008) 0.93
Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy. Hum Mutat (2009) 0.92
Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase. Hum Mol Genet (2009) 0.92
Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies. Ophthalmology (2010) 0.92
Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results. Oxid Med Cell Longev (2011) 0.92
Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational. PLoS Curr (2013) 0.92
Autologous stem cell transplantation as rescue therapy in malignant forms of multiple sclerosis. Mult Scler (2005) 0.92
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis. BMC Med Genet (2010) 0.92
Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies? Amyloid (2006) 0.91
Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3. Neurogenetics (2013) 0.91
Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: a report from the National Down Syndrome Project. Am J Med Genet A (2013) 0.90
The intra-bone marrow injection of cord blood cells extends the possibility of transplantation to the majority of patients with malignant hematopoietic diseases. Best Pract Res Clin Haematol (2010) 0.90
Association of CYP1B1 with hypersensitivity induced by taxane therapy in breast cancer patients. Breast Cancer Res Treat (2010) 0.90