Diana Rajan

aCGH.Spline - an R package for aCGH dye bias normalization

Richard Redon, Solena Le Scouarnec, Lee D. Larcombe, 2011, Bioinform..

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

Ryan Mills, Ji Hyeon Park, Aparna Prasad, 2011, Nature Biotechnology.

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

Alejandro Sifrim, Matthew E Hurles, Tomas W. Fitzgerald, 2015, The Lancet.

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

Morad Ansari, Alejandro Sifrim, Matthew E Hurles, 2015, Nature Genetics.

Massively Parallel Sequencing Reveals the Complex Structure of an Irradiated Human Chromosome on a Mouse Background in the Tc1 Model of Down Syndrome

Kai Rothkamm, Ruby Banerjee, Fengtang Yang, 2013, PloS one.

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

Manuel Corpas, Yves Moreau, Steven Van Vooren, 2009, American journal of human genetics.