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List of works by Alejandro Sifrim

A Simple Genetic Algorithm for Biomarker Mining

Alternative experimental design with an applied normalization scheme can improve statistical power in 2D-DIGE experiments.

scientific article published in October 2010

Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease

scientific article (publication date: 2012)

Beegle: from literature mining to disease-gene discovery

scientific article published on 17 September 2015

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

scientific article

Defining the Design Principles of Skin Epidermis Postnatal Growth

scientific article published on 05 April 2020

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

scientific article published on 5 October 2015

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

scientific article published in August 2016

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

scientific article

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

scientific article

Meander: visually exploring the structural variome using space-filling curves

scientific article

Medusa: A tool for exploring and clustering biological networks

scientific article

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

scientific article

Problems with the nested granularity of feature domains in bioinformatics: the eXtasy case

scientific article

TrioVis: a visualization approach for filtering genomic variants of parent–child trios ⬇️

scientific article published on May 8, 2013

Unraveling genomic variation from next generation sequencing data

scientific article

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