User profiles for A Sifrim
 | Alejandro SifrimLaboratory of Multi-omic Integrative Bioinformatics - Center of Human Genetics - KU Leuven Verified email at kuleuven.be Cited by 7189 |
[HTML][HTML] Methods and applications for single-cell and spatial multi-omics
K Vandereyken, A Sifrim, B Thienpont… - Nature Reviews Genetics, 2023 - nature.com
The joint analysis of the genome, epigenome, transcriptome, proteome and/or metabolome
from single cells is transforming our understanding of cell biology in health and disease. In …
from single cells is transforming our understanding of cell biology in health and disease. In …
Identification of the tumour transition states occurring during EMT
In cancer, the epithelial-to-mesenchymal transition (EMT) is associated with tumour stemness,
metastasis and resistance to therapy. It has recently been proposed that, rather than being …
metastasis and resistance to therapy. It has recently been proposed that, rather than being …
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
Congenital heart defects (CHDs) have a neonatal incidence of 0.8–1% (refs. 1 , 2 ). Despite
abundant examples of monogenic CHD in humans and mice, CHD has a low absolute …
abundant examples of monogenic CHD in humans and mice, CHD has a low absolute …
[HTML][HTML] Unraveling genomic variation from next generation sequencing data
Elucidating the content of a DNA sequence is critical to deeper understand and decode the
genetic information for any biological system. As next generation sequencing (NGS) …
genetic information for any biological system. As next generation sequencing (NGS) …
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
Nicolaides-Baraitser syndrome (NBS) is characterized by sparse hair, distinctive facial
morphology, distal-limb anomalies and intellectual disability. We sequenced the exomes of ten …
morphology, distal-limb anomalies and intellectual disability. We sequenced the exomes of ten …
[HTML][HTML] Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders
Purpose Given the rapid pace of discovery in rare disease genomics, it is likely that improvements
in diagnostic yield can be made by systematically reanalyzing previously generated …
in diagnostic yield can be made by systematically reanalyzing previously generated …
[HTML][HTML] Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
Background Human genome sequencing has transformed our understanding of genomic
variation and its relevance to health and disease, and is now starting to enter clinical practice …
variation and its relevance to health and disease, and is now starting to enter clinical practice …
[PDF][PDF] Histone lysine methylases and demethylases in the landscape of human developmental disorders
…, J Kaplanis, E Prigmore, D Rajan, A Sifrim… - The American Journal of …, 2018 - cell.com
Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation.
Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are …
Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are …
De novo mutations in regulatory elements in neurodevelopmental disorders
We previously estimated that 42% of patients with severe developmental disorders carry
pathogenic de novo mutations in coding sequences. The role of de novo mutations in regulatory …
pathogenic de novo mutations in coding sequences. The role of de novo mutations in regulatory …
eXtasy: variant prioritization by genomic data fusion
A Sifrim, D Popovic, LC Tranchevent… - Nature …, 2013 - nature.com
Massively parallel sequencing greatly facilitates the discovery of novel disease genes
causing Mendelian and oligogenic disorders. However, many mutations are present in any …
causing Mendelian and oligogenic disorders. However, many mutations are present in any …