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Personalized Diagnosis and Management of Congenital Cataract by Next-Generation Sequencing

Ophthalmology (Rochester, Minn.), 2014-11, Vol.121 (11), p.2124-2137.e2

2014

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Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract

Ophthalmology (Rochester, Minn.), 2016, Vol.123 (1), p.217-220

2016

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Molecular findings from 537 individuals with inherited retinal disease

Journal of medical genetics, 2016-11, Vol.53 (11), p.761-767

2016

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Genetic testing for inherited ocular disease: delivering on the promise at last?

Clinical & experimental ophthalmology, 2014-01, Vol.42 (1), p.65-77

2014

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Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy

Investigative ophthalmology & visual science, 2015-01, Vol.56 (2), p.883-891

2015

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Comprehensive genomic testing of over 200 paediatric cataract patients: an insight into the spectrum of genetic etiology

Journal of AAPOS, 2016-08, Vol.20 (4), p.e5-e5

2016

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The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity

Orphanet journal of rare diseases, 2016-09, Vol.11 (1), p.125-125, Article 125

2016

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A new diagnostic approach to children with cataract caused by metabolic disease

Journal of AAPOS, 2015-08, Vol.19 (4), p.e23-e23

2015

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The Use of Autozygosity Mapping and Next-Generation Sequencing in Understanding Anterior Segment Defects Caused by an Abnormal Development of the Lens

Human heredity, 2014-01, Vol.77 (1/4), p.118-137

2014

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Delivering the promise of genomics for ophthalmology: congenital cataract as an exemplar

Journal of AAPOS, 2014-08, Vol.18 (4), p.e30-e30

2014

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A Comprehensive Phenotypic and Molecular Analysis of Congenital and Childhood Cataract

Gillespie, Rachel L

2015

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ProQuest

The Role of Molecular Genetics in the Assessment of Children with Congenital Cataract

Congenital Cataract, p.29-54

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Activity of Selumetinib in Neurofibromatosis Type 1–Related Plexiform Neurofibromas

The New England journal of medicine, 2016-12, Vol.375 (26), p.2550-2560

2016

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ANKRD24 organizes TRIOBP to reinforce stereocilia insertion points

The Journal of cell biology, 2022-04, Vol.221 (4), p.1

2022

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C-Reactive Protein Testing to Guide Antibiotic Prescribing for COPD Exacerbations

The New England journal of medicine, 2019-07, Vol.381 (2), p.111-120

2019

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Repositioning for pressure injury prevention in adults

Cochrane database of systematic reviews, 2020-06, Vol.6 (6), p.CD009958-CD009958

2020

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Predictors of Early Mortality among Incident US Hemodialysis Patients in the Dialysis Outcomes and Practice Patterns Study (DOPPS)

Clinical journal of the American Society of Nephrology, 2007-01, Vol.2 (1), p.89-99

2007

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Contextual and Policy Influences on the Implementation of Prenatal Care Coordination

Policy, politics & nursing practice, 2023-08, Vol.24 (3), p.187-197

2023

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Socioeconomic Factors Are Associated With Readmission After Lobectomy for Early Stage Lung Cancer

The Annals of thoracic surgery, 2016-11, Vol.102 (5), p.1660-1667

2016

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Reporting of complex interventions in clinical trials: development of a taxonomy to classify and describe fall-prevention interventions

Trials, 2011-05, Vol.12 (1), p.125-125, Article 125

2011

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The R109H variant of fascin-2, a developmentally regulated actin crosslinker in hair-cell stereocilia, underlies early-onset hearing loss of DBA/2J mice

The Journal of neuroscience, 2010-07, Vol.30 (29), p.9683-9694

2010

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Variations in sacral sub-epidermal moisture measurements in hospitalized medical and surgical patients: A longitudinal observational sub-study

International journal of nursing studies, 2023-09, Vol.145, p.104545-104545, Article 104545

2023

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Trauma exposure and stress-related disorders in a large, urban, predominantly African-American, female sample

Archives of women's mental health, 2021-12, Vol.24 (6), p.893-901

2021

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Enhancing cancer immunotherapy via inhibition of soluble epoxide hydrolase

Proceedings of the National Academy of Sciences - PNAS, 2024-02, Vol.121 (7), p.e2314085121

2024

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Nodal Upstaging Is More Common with Thoracotomy than with VATS During Lobectomy for Early-Stage Lung Cancer: An Analysis from the National Cancer Data Base

Journal of thoracic oncology, 2016-02, Vol.11 (2), p.222-233

2016

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Personalized Diagnosis and Management of Congenital Cataract by Next-Generation Sequencing

Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract

Molecular findings from 537 individuals with inherited retinal disease

Genetic testing for inherited ocular disease: delivering on the promise at last?

Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy

Comprehensive genomic testing of over 200 paediatric cataract patients: an insight into the spectrum of genetic etiology

The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity

A new diagnostic approach to children with cataract caused by metabolic disease

The Use of Autozygosity Mapping and Next-Generation Sequencing in Understanding Anterior Segment Defects Caused by an Abnormal Development of the Lens

Delivering the promise of genomics for ophthalmology: congenital cataract as an exemplar

A Comprehensive Phenotypic and Molecular Analysis of Congenital and Childhood Cataract

The Role of Molecular Genetics in the Assessment of Children with Congenital Cataract

Activity of Selumetinib in Neurofibromatosis Type 1–Related Plexiform Neurofibromas

ANKRD24 organizes TRIOBP to reinforce stereocilia insertion points

C-Reactive Protein Testing to Guide Antibiotic Prescribing for COPD Exacerbations

Repositioning for pressure injury prevention in adults

Predictors of Early Mortality among Incident US Hemodialysis Patients in the Dialysis Outcomes and Practice Patterns Study (DOPPS)

Contextual and Policy Influences on the Implementation of Prenatal Care Coordination

Socioeconomic Factors Are Associated With Readmission After Lobectomy for Early Stage Lung Cancer

Reporting of complex interventions in clinical trials: development of a taxonomy to classify and describe fall-prevention interventions

The R109H variant of fascin-2, a developmentally regulated actin crosslinker in hair-cell stereocilia, underlies early-onset hearing loss of DBA/2J mice

Variations in sacral sub-epidermal moisture measurements in hospitalized medical and surgical patients: A longitudinal observational sub-study

Trauma exposure and stress-related disorders in a large, urban, predominantly African-American, female sample

Enhancing cancer immunotherapy via inhibition of soluble epoxide hydrolase

Nodal Upstaging Is More Common with Thoracotomy than with VATS During Lobectomy for Early-Stage Lung Cancer: An Analysis from the National Cancer Data Base

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