Alejandro Sifrim
Wellcome Sanger Institute(GB)Center for Human Genetics(US)KU Leuven(BE)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, Single-cell and spatial transcriptomics, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Identification of the tumour transition states occurring during EMT(2018)1,479 cited
- → Methods and applications for single-cell and spatial multi-omics(2023)1,033 cited
- → Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data(2014)787 cited
- → Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing(2016)464 cited
- → Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders(2018)335 cited
- → De novo mutations in regulatory elements in neurodevelopmental disorders(2018)307 cited
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