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Quantitative Genomics Medicine Laboratories (qGenomics) | Researchclopedia

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Quantitative Genomics Medicine Laboratories (qGenomics)

Esplugues de Llobregatcompany

30

Works

1,403

Citations

17

h-index

Top Research Topics

Genomic variations and chromosomal abnormalities Genomics and Rare Diseases Congenital heart defects research

Top Researchers

Xavier Estivill

867 works90,845 citationsh-index: 128

Recent Research

The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance

Stefano Medaglia,Jaume Reig‐Palou,et al.

20241 citations

Genetic Associations and Epidemiology

RNA Research and Splicing

RNA modifications and cancer

Genetics and Neurodevelopmental Disorders

Genomics and Chromatin Dynamics

Glaucoma and retinal disorders

Epigenetics and DNA Methylation

Chromosomal and Genetic Variations

Iron Metabolism and Disorders

Blanca Rodríguez Universidad de Oviedo

776 works23,173 citationsh-index: 73

Lluı́s Armengol Centro Tecnológico del Agua

102 works15,073 citationsh-index: 32

Benjamín Rodríguez‐Santiago Universitat Autònoma de Barcelona

74 works3,142 citationsh-index: 27

Cristina Hernándo Hospital Clínico Universitario de Valencia

102 works1,332 citationsh-index: 20

Olaya Villa Quantitative Genomics Medicine Laboratories (qGenomics)

25 works1,254 citationsh-index: 11

P-509 Unveiling reproductive risks: a retrospective analysis of carrier screening in 873 non-consanguineous couples

Ariadna Bellés,Jeanid Guillén,et al.

20240 citations

P-508 Management of incidental findings after preconception expanded carrier screening: identifying genetic predispositions to cancer and metabolic conditions in 8010 screened ART patients

Gilberto Ramírez López,Jeanid Guillén,et al.

20240 citations

Advancing diagnosis and research for rare genetic diseases in Indigenous peoples

Gareth Baynam,Daria Julkowska,et al.

202413 citations

Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype

Mónica Roldán,Gregorio Nolasco,et al.

20231 citations

Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice

María Juliana Ballesta‐Martínez,Virginia Pérez‐Fernández,et al.

202311 citations