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Blueprint Genetics (Finland) | Researchclopedia

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Blueprint Genetics (Finland)

Helsinki, Uusimaacompany

174

Works

8,507

Citations

50

h-index

Top Research Topics

Cardiomyopathy and Myosin Studies Retinal Development and Disorders Genomics and Rare Diseases

Top Researchers

James R. Wright Duke University

1,444 works54,677 citationsh-index: 116

Recent Research

PO12 Genetic Findings in a Cohort of Over 2,300 Individuals with Clinically Suspected Heritable Thoracic Aortic Disease

Mia Toivonen,Rosa Woldegebriel,et al.

20260 citations

Retinal Diseases and Treatments

Genetics and Neurodevelopmental Disorders

Viral Infections and Immunology Research

RNA Research and Splicing

Genomic variations and chromosomal abnormalities

Cardiovascular Effects of Exercise

RNA and protein synthesis mechanisms

Genomics and Phylogenetic Studies

Pulmonary Hypertension Research and Treatments

Alan Cooper University of Wisconsin–Madison

799 works46,981 citationsh-index: 105

Manisha H. Shah Liaquat National Hospital

325 works33,574 citationsh-index: 63

Gavin Y. Oudit University of Alberta

519 works31,756 citationsh-index: 89

Ingo Helbig Children's Hospital of Philadelphia

382 works19,990 citationsh-index: 73

Lori J. Wirth Harvard University

566 works19,658 citationsh-index: 68

Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis

Erin E. Tapper,Johanna M. Huusko,et al.

20250 citations

Comparison of missing data handling methods for variant pathogenicity predictors

Mikko Särkkä,Sami Myöhänen,et al.

20251 citations

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals

Eline Van Vooren,Filip Van den Broeck,et al.

20251 citations

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

Eline Van Vooren,Filip Van den Broeck,et al.

20251 citations

A novel dominant RPE65-related retinopathy is caused by p.(E519K), a founder variant of Flemish origin

Eline Van Vooren,Filip Van den Broeck,et al.

20250 citations