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Multi-ancestry fine mapping implicates OAS1 splicing in risk of severe COVID-19

Nature genetics, 2022-02, Vol.54 (2), p.125-127

2022

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Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome

Genes, 2021-06, Vol.12 (6), p.937

2021

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Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration

The Journal of clinical investigation, 2013-10, Vol.123 (10), p.4525-4539

2013

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A Network of Nuclear Envelope Membrane Proteins Linking Centromeres to Microtubules

Cell, 2008-08, Vol.134 (3), p.427-438

2008

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The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature

American journal of medical genetics. Part A, 2019-06, Vol.179 (6), p.1063-1068

2019

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eQTpLot: a user-friendly R package for the visualization of colocalization between eQTL and GWAS signals

BioData mining, 2021-07, Vol.14 (1), p.32-32, Article 32

2021

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Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders

Nature communications, 2022-06, Vol.13 (1), p.3428-3428, Article 3428

2022

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Protocol for a type 3 hybrid implementation cluster randomized clinical trial to evaluate the effect of patient and clinician nudges to advance the use of genomic medicine across a diverse health system

Implementation science : IS, 2024-08, Vol.19 (1), p.61-15

2024

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The Bionic Retina: A Small Molecule with Big Potential for Visual Restoration

Neuron (Cambridge, Mass.), 2012-07, Vol.75 (2), p.185-187

2012

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The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population

Journal of personalized medicine, 2022-11, Vol.12 (12), p.1974

2022

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Phenotypes of undiagnosed adults with actionable OTC and GLA variants

HGG advances, 2023-10, Vol.4 (4), p.100226-100226, Article 100226

2023

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An Autogenously Regulated Expression System for Gene Therapeutic Ocular Applications

Scientific reports, 2015-11, Vol.5 (1), p.17105-17105, Article 17105

2015

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Unraveling a history of overlap: A phenotypic comparison of RBCK1‐related disease and glycogen storage disease type IV

American journal of medical genetics. Part A, 2024-07, Vol.194 (7), p.e63574-n/a

2024

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Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis

Science translational medicine, 2015-06, Vol.7 (291), p.291ra97

2015

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CEP290 and the primary cilium

Advances in experimental medicine and biology, 2014, Vol.801, p.519

2014

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Comparison of Transthoracic Contrast Echocardiography with High-Resolution Chest CT after Embolization of Pulmonary Arteriovenous Malformation

Journal of vascular and interventional radiology, 2023-08, Vol.34 (8), p.1435-1440

2023

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Unmasking the challenges of Kabuki syndrome in adulthood: A case series

American journal of medical genetics. Part C, Seminars in medical genetics, 2023-06, Vol.193 (2), p.128-138

2023

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Existence of a novel clathrin-independent endocytic pathway in yeast that depends on Rho1 and formin

The Journal of cell biology, 2011-11, Vol.195 (4), p.657-671

2011

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Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA

American journal of medical genetics. Part A, 2024-01, Vol.194 (1), p.64-69

2024

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Author Correction: An Autogenously Regulated Expression System for Gene Therapeutic Ocular Applications

Scientific reports, 2018-11, Vol.8 (1), p.17286-1, Article 17286

2018

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Interaction between Epsin/Yap180 adaptors and the scaffolds Ede1/Pan1 is required for endocytosis

Molecular biology of the cell, 2008-07, Vol.19 (7), p.2936-2948

2008

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End Stage Mitochondrial Cardiomyopathy and Heart Transplantation Due to Biallelic Pathogenic C1QBP Variants

Circulation. Genomic and precision medicine, 2022-04, Vol.15 (2), p.e003559-e003559

2022

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Identification of lysosomal diseases by expanded carrier screening

Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.S50-S50

2019

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Abstract 9872: Cardiac Enhancer Variants at the Mtss1 Locus Are Associated with Smaller, More Contractile Hearts

Circulation (New York, N.Y.), 2021-11, Vol.144 (Suppl_1)

2021

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Multi-ancestry fine mapping implicates OAS1 splicing in risk of severe COVID-19

Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome

Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration

A Network of Nuclear Envelope Membrane Proteins Linking Centromeres to Microtubules

The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature

eQTpLot: a user-friendly R package for the visualization of colocalization between eQTL and GWAS signals

Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders

Protocol for a type 3 hybrid implementation cluster randomized clinical trial to evaluate the effect of patient and clinician nudges to advance the use of genomic medicine across a diverse health system

The Bionic Retina: A Small Molecule with Big Potential for Visual Restoration

The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population

Phenotypes of undiagnosed adults with actionable OTC and GLA variants

An Autogenously Regulated Expression System for Gene Therapeutic Ocular Applications

Unraveling a history of overlap: A phenotypic comparison of RBCK1‐related disease and glycogen storage disease type IV

Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis

CEP290 and the primary cilium

Comparison of Transthoracic Contrast Echocardiography with High-Resolution Chest CT after Embolization of Pulmonary Arteriovenous Malformation

Unmasking the challenges of Kabuki syndrome in adulthood: A case series

Existence of a novel clathrin-independent endocytic pathway in yeast that depends on Rho1 and formin

Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA

Author Correction: An Autogenously Regulated Expression System for Gene Therapeutic Ocular Applications

Interaction between Epsin/Yap180 adaptors and the scaffolds Ede1/Pan1 is required for endocytosis

End Stage Mitochondrial Cardiomyopathy and Heart Transplantation Due to Biallelic Pathogenic C1QBP Variants

Progesterone for Neurodevelopment in Fetuses With Congenital Heart Defects: A Randomized Clinical Trial

Identification of lysosomal diseases by expanded carrier screening

Abstract 9872: Cardiac Enhancer Variants at the Mtss1 Locus Are Associated with Smaller, More Contractile Hearts

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