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A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

Annals of neurology, 2015-02, Vol.77 (2), p.206-214

2015

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P443: Genetic screening of a reportedly healthy population for familial hypercholesterolemia, hereditary breast and ovarian cancer syndrome, and Lynch syndrome

Genetics in Medicine Open, 2023, Vol.1 (1), p.100490, Article 100490

2023

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P696: Case presentation: Co-segregation of a rare GLA variant of uncertain significance within 2 multiplex families facilitates variant reclassification to pathogenic

Genetics in Medicine Open, 2024, Vol.2, p.101600, Article 101600

2024

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Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

Annals of clinical and translational neurology, 2018-12, Vol.5 (12), p.1574-1587

2018

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The role of clinical response to treatment in determining pathogenicity of genomic variants

Genetics in medicine, 2021-03, Vol.23 (3), p.581-585

2021

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P729: Identification of multiple diagnoses in pediatric patients through genome sequencing

Genetics in Medicine Open, 2024, Vol.2, p.101633, Article 101633

2024

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P581: Comparison of GLA variant profile in newborn screening confirmatory testing and diagnostic testing for Fabry disease

Genetics in Medicine Open, 2024, Vol.2, p.101487, Article 101487

2024

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P599: Beyond single nucleotide variants and copy number variations: Spinal muscular atrophy and repeat expansion disorders screening by whole genome sequencing

Genetics in Medicine Open, 2024, Vol.2, p.101505, Article 101505

2024

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Response to Biesecker et al

Genetics in medicine, 2021-04, Vol.23 (4), p.793-794

2021

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P441: Genomic and biochemical profile of pseudodeficiency in lysosomal storage disorders

Genetics in Medicine Open, 2023, Vol.1 (1), p.100488, Article 100488

2023

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P566: Importance Of parental segregation studies and its role in variant classification

Genetics in Medicine Open, 2023, Vol.1 (1), p.100613, Article 100613

2023

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P567: Comprehensive genetic testing gives a high diagnostic yield in the Indian sub-continent compared to the western population

Genetics in Medicine Open, 2023, Vol.1 (1), p.100614, Article 100614

2023

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P157: Efficiency of genome sequencing in establishing molecular diagnosis in undiagnosed patients

Genetics in Medicine Open, 2023, Vol.1 (1), p.100186, Article 100186

2023

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P638: Genomic breakpoint analysis facilitates identification of complex rearrangements and re-classification of non-tandem duplications in the DMD gene

Genetics in Medicine Open, 2024, Vol.2, p.101544, Article 101544

2024

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MCT8 Deficiency: Extrapyramidal Symptoms and Delayed Myelination as Prominent Features

Journal of Child Neurology, 2013-06, Vol.28 (6), p.795-800

2013

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P502: How does multiomics help variant reclassification?

Genetics in Medicine Open, 2023, Vol.1 (1), p.100549, Article 100549

2023

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P679: Ultrarapid whole genome sequencing facilitates early definitive diagnosis of rare genetic disorders

Genetics in Medicine Open, 2024, Vol.2, p.101583, Article 101583

2024

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P714: Genome screening of newborns: Sequencing is easy, assessing the clinical utility of genomic findings uncovered in asymptomatic children is challenging

Genetics in Medicine Open, 2024, Vol.2, p.101618, Article 101618

2024

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P425: Unparalleled power of genome sequencing in screening ostensibly healthy newborns and children: Findings from the first real-world dataset

Genetics in Medicine Open, 2023, Vol.1 (1), p.100472, Article 100472

2023

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P426: Recognizing the promise and potential pitfalls of genomic medicine through routine rapid whole genome sequencing

Genetics in Medicine Open, 2023, Vol.1 (1), p.100473, Article 100473

2023

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Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy

Annals of clinical and translational neurology, 2022-08, Vol.9 (8), p.1302-1309

2022

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Molecular diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing

Molecular genetics and metabolism, 2013-09, Vol.110 (1-2), p.78-85

2013

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Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis

Molecular autism, 2014-02, Vol.5 (1), p.16-16, Article 16

2014

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A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

P443: Genetic screening of a reportedly healthy population for familial hypercholesterolemia, hereditary breast and ovarian cancer syndrome, and Lynch syndrome

P696: Case presentation: Co-segregation of a rare GLA variant of uncertain significance within 2 multiplex families facilitates variant reclassification to pathogenic

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

The role of clinical response to treatment in determining pathogenicity of genomic variants

P729: Identification of multiple diagnoses in pediatric patients through genome sequencing

P581: Comparison of GLA variant profile in newborn screening confirmatory testing and diagnostic testing for Fabry disease

P599: Beyond single nucleotide variants and copy number variations: Spinal muscular atrophy and repeat expansion disorders screening by whole genome sequencing

Response to Biesecker et al

Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar

P441: Genomic and biochemical profile of pseudodeficiency in lysosomal storage disorders

P566: Importance Of parental segregation studies and its role in variant classification

P567: Comprehensive genetic testing gives a high diagnostic yield in the Indian sub-continent compared to the western population

P157: Efficiency of genome sequencing in establishing molecular diagnosis in undiagnosed patients

P638: Genomic breakpoint analysis facilitates identification of complex rearrangements and re-classification of non-tandem duplications in the DMD gene

MCT8 Deficiency: Extrapyramidal Symptoms and Delayed Myelination as Prominent Features

P502: How does multiomics help variant reclassification?

P679: Ultrarapid whole genome sequencing facilitates early definitive diagnosis of rare genetic disorders

P714: Genome screening of newborns: Sequencing is easy, assessing the clinical utility of genomic findings uncovered in asymptomatic children is challenging

P425: Unparalleled power of genome sequencing in screening ostensibly healthy newborns and children: Findings from the first real-world dataset

P426: Recognizing the promise and potential pitfalls of genomic medicine through routine rapid whole genome sequencing

Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy

Molecular diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing

Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis

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