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Peak vertical ground reaction force used to identify sub‐groups of individuals with differing biomechanical gait profiles post‐anterior cruciate ligament reconstruction

Journal of orthopaedic research, 2024-08

2024

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Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent

The Journal of molecular diagnostics : JMD, 2024-06, Vol.26 (6), p.510-519

2024

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Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing

Human mutation, 2024-04, Vol.2024, p.1-19

2024

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Retrospective evaluation of MRI findings in arthroscopically confirmed cases of hypermobile lateral meniscus

Skeletal radiology, 2024-03, Vol.53 (3), p.465-472

2024

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Rhabdomyolysis: a review of imaging features across modalities

Skeletal radiology, 2024-01, Vol.53 (1), p.19-27

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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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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Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test

Genetics in medicine, 2024-01, Vol.26 (1), p.100995, Article 100995

2024

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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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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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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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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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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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Using a model-based geostatistical approach to design and analyse the prevalence of schistosomiasis in Kenya

Frontiers in tropical diseases, 2023-11, Vol.4

2023

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Model-based geostatistical design and analysis of prevalence for soil-transmitted helminths in Kenya: Results from ten-years of the Kenya national school-based deworming programme

Heliyon, 2023-10, Vol.9 (10), p.e20695-e20695, Article e20695

2023

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COVID ‐19 and the role of gender, earnings, and telecommuting in parents' employment

Journal of marriage and family, 2023-10, Vol.85 (5), p.1007-1027

2023

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COVID-19 and the role of gender, earnings, and telecommuting in parents' employment

Journal of marriage and family, 2023-10, Vol.85 (5), p.1007-1027

2023

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At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children

JAMA network open, 2023-07, Vol.6 (7), p.e2326445-e2326445

2023

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Aesthetic Effect of Steri-Strip Orientation on Healing and Scar Appearance in Breast Surgery: Preliminary Results

Journal of the American College of Surgeons, 2023-05, Vol.236 (5), p.S8-S8

2023

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Remote Schooling and Mothers’ Employment During the COVID-19 Pandemic by Race, Education, and Marital Status

RSF : Russell Sage Foundation journal of the social sciences, 2023-05, Vol.9 (3), p.134-158

2023

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Outcomes in patients with clinically suspected pedal osteomyelitis based on bone marrow signal pattern on MRI

Journal of bone and joint infection, 2023-03, Vol.8 (2), p.99-107

2023

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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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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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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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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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Peak vertical ground reaction force used to identify sub‐groups of individuals with differing biomechanical gait profiles post‐anterior cruciate ligament reconstruction

Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent

Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing

Retrospective evaluation of MRI findings in arthroscopically confirmed cases of hypermobile lateral meniscus

Rhabdomyolysis: a review of imaging features across modalities

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

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

Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test

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

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

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

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

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

Using a model-based geostatistical approach to design and analyse the prevalence of schistosomiasis in Kenya

Model-based geostatistical design and analysis of prevalence for soil-transmitted helminths in Kenya: Results from ten-years of the Kenya national school-based deworming programme

COVID ‐19 and the role of gender, earnings, and telecommuting in parents' employment

COVID-19 and the role of gender, earnings, and telecommuting in parents' employment

At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children

Aesthetic Effect of Steri-Strip Orientation on Healing and Scar Appearance in Breast Surgery: Preliminary Results

Remote Schooling and Mothers’ Employment During the COVID-19 Pandemic by Race, Education, and Marital Status

Outcomes in patients with clinically suspected pedal osteomyelitis based on bone marrow signal pattern on MRI

P502: How does multiomics help variant reclassification?

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

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

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

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