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Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation

Genetics in medicine, 2016-06, Vol.18 (6), p.545-553

2016

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Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation

Genetics in medicine, 2017-05, Vol.19 (5), p.496-504

2017

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Artificial Intelligence Approach for Variant Reporting

JCO clinical cancer informatics, 2018 (2), p.1-13

2018

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Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Nature genetics, 2016-09, Vol.48 (9), p.1060-1065

2016

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Global age-sex-specific fertility, mortality, healthy life expectancy (HALE), and population estimates in 204 countries and territories, 1950–2019: a comprehensive demographic analysis for the Global Burden of Disease Study 2019

The Lancet (British edition), 2020-10, Vol.396 (10258), p.1160-1203

2020

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The global burden of cancer attributable to risk factors, 2010–19: a systematic analysis for the Global Burden of Disease Study 2019

The Lancet (British edition), 2022-08, Vol.400 (10352), p.563-591

2022

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Synaptic, transcriptional and chromatin genes disrupted in autism

Nature (London), 2014-11, Vol.515 (7526), p.209-215

2014

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Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

Brain (London, England : 1878), 2013-12, Vol.136 (Pt 12), p.3618-3624

2013

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The UK10K project identifies rare variants in health and disease

Nature (London), 2015-10, Vol.526 (7571), p.82-90

2015

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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

American journal of human genetics, 2019-06, Vol.104 (6), p.1182-1201

2019

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Prevalence of post-COVID symptoms of obsessive-compulsive disorder in Saudi Arabia

Neurosciences, 2023-01, Vol.28 (1), p.27-35

2023

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The global burden of adolescent and young adult cancer in 2019: a systematic analysis for the Global Burden of Disease Study 2019

The lancet oncology, 2022-01, Vol.23 (1), p.27-52

2022

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Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy

American journal of human genetics, 2012-12, Vol.91 (6), p.1103-1107

2012

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Predictors of forniceal rupture in patients with obstructing ureteral calculi: Analysis of multicenter data

Urology annals, 2024-04, Vol.16 (2), p.146-149

2024

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An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Nature communications, 2016-05, Vol.7 (1), p.11491-11491, Article 11491

2016

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Knowledge, Attitude and Practice of Non-Psychiatric Physicians about Addiction

World Family Medicine Journal /Middle East Journal of Family Medicine, 2021-12, Vol.19 (12)

2021

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The many faces of peroxisomal disorders: Lessons from a large Arab cohort

Clinical genetics, 2019-02, Vol.95 (2), p.310-319

2019

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Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Journal of medical genetics, 2013-05, Vol.50 (5), p.309-323

2013

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Electronic early notification of sepsis in hospitalized ward patients: a study protocol for a stepped-wedge cluster randomized controlled trial

Trials, 2021-10, Vol.22 (1), p.695-695, Article 695

2021

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Loss of PCLO function underlies pontocerebellar hypoplasia type III

Neurology, 2015-04, Vol.84 (17), p.1745-1750

2015

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Statistical analysis plan for the Steppedwedge Cluster Randomized trial of Electronic Early Notification of sepsis in hospitalized ward patients

Trials, 2021-11, Vol.22 (1), p.828-828

2021

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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

American journal of human genetics, 2019-10, Vol.105 (4), p.879-879

2019

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Exploring the Relationship Between Stress and Satisfaction During Clinical Training Among Respiratory Therapy Students: A Nationwide Cross-Sectional Survey

Psychology research and behavior management, 2023-09, Vol.16, p.3687-3696

2023

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Statistical analysis plan for the Stepped-wedge Cluster Randomized trial of Electronic Early Notification of sepsis in hospitalized ward patients (SCREEN)

Trials, 2021-12, Vol.22 (1), Article 828

2021

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Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation

Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation

Artificial Intelligence Approach for Variant Reporting

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Global age-sex-specific fertility, mortality, healthy life expectancy (HALE), and population estimates in 204 countries and territories, 1950–2019: a comprehensive demographic analysis for the Global Burden of Disease Study 2019

The global burden of cancer attributable to risk factors, 2010–19: a systematic analysis for the Global Burden of Disease Study 2019

Synaptic, transcriptional and chromatin genes disrupted in autism

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

The UK10K project identifies rare variants in health and disease

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Prevalence of post-COVID symptoms of obsessive-compulsive disorder in Saudi Arabia

The global burden of adolescent and young adult cancer in 2019: a systematic analysis for the Global Burden of Disease Study 2019

Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy

Predictors of forniceal rupture in patients with obstructing ureteral calculi: Analysis of multicenter data

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Knowledge, Attitude and Practice of Non-Psychiatric Physicians about Addiction

The many faces of peroxisomal disorders: Lessons from a large Arab cohort

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Electronic early notification of sepsis in hospitalized ward patients: a study protocol for a stepped-wedge cluster randomized controlled trial

Loss of PCLO function underlies pontocerebellar hypoplasia type III

Statistical analysis plan for the Steppedwedge Cluster Randomized trial of Electronic Early Notification of sepsis in hospitalized ward patients

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Exploring the Relationship Between Stress and Satisfaction During Clinical Training Among Respiratory Therapy Students: A Nationwide Cross-Sectional Survey

Statistical analysis plan for the Stepped-wedge Cluster Randomized trial of Electronic Early Notification of sepsis in hospitalized ward patients (SCREEN)

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

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