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Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

American journal of human genetics, 2013-07, Vol.93 (1), p.29-41

2013

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Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

American journal of human genetics, 2016-11, Vol.99 (5), p.1086-1105

2016

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Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

Human mutation, 2010-07, Vol.31 (7), p.E1544-E1550

2010

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TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy

Neuromuscular disorders : NMD, 2016-08, Vol.26 (8), p.500-503

2016

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Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant

Frontiers in neurology, 2023-01, Vol.14, p.1055639

2023

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Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

Annals of clinical and translational neurology, 2024-05, Vol.11 (5), p.1250-1266

2024

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Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone

HGG advances, 2022-10, Vol.3 (4), p.100125-100125, Article 100125

2022

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A novel mutation expands the genetic and clinical spectrum of MYH7 -related myopathies

Neuromuscular disorders : NMD, 2013-05, Vol.23 (5), p.432-436

2013

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Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned

JAMA neurology, 2015-12, Vol.72 (12), p.1424

2015

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Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Annals of neurology, 2018-06, Vol.83 (6), p.1105-1124

2018

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Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly

American journal of human genetics, 2019-09, Vol.105 (3), p.573-587

2019

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Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant

Human mutation, 2018-03, Vol.39 (3), p.383-388

2018

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Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders

Human molecular genetics, 2023-06, Vol.32 (12), p.2084-2092

2023

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Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

The Journal of clinical investigation, 2014-11, Vol.124 (11), p.4693-4708

2014

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Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

Human molecular genetics, 2015-11, Vol.24 (21), p.6146-6159

2015

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Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Genetics in medicine, 2021-09, Vol.23 (9), p.1715-1725

2021

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Compound heterozygous splicing variants expand the genotypic spectrum of EMC1‐related disorders

Clinical genetics, 2023-05, Vol.103 (5), p.553-559

2023

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Genome Sequencing for Diagnosing Rare Diseases

The New England journal of medicine, 2024-06, Vol.390 (21), p.1985-1997

2024

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Expanding the phenotype of GMPPB mutations

Brain (London, England : 1878), 2015-04, Vol.138 (Pt 4), p.836-844

2015

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Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

European journal of human genetics : EJHG, 2021-01, Vol.29 (1), p.61-66

2021

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A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre

Neuromuscular disorders : NMD, 2022-09, Vol.32 (9), p.707-717

2022

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Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants

Neuromuscular disorders : NMD, 2019-12, Vol.29 (12), p.913-919

2019

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A study of FHL1 , BAG3 , MATR3 , PTRF and TCAP in Australian muscular dystrophy patients

Neuromuscular disorders : NMD, 2011-11, Vol.21 (11), p.776-781

2011

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Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin

European journal of human genetics : EJHG, 2019-08, Vol.27 (8), p.1267-1273

2019

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Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy

Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone

A novel mutation expands the genetic and clinical spectrum of MYH7 -related myopathies

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant

Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Compound heterozygous splicing variants expand the genotypic spectrum of EMC1‐related disorders

Genome Sequencing for Diagnosing Rare Diseases

Expanding the phenotype of GMPPB mutations

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre

Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants

A study of FHL1 , BAG3 , MATR3 , PTRF and TCAP in Australian muscular dystrophy patients

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin

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