5q11.2 deletion in a patient with tracheal agenesis

Detection of large-scale variation in the human genome

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

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Gene prioritization through genomic data fusion

Stein Aerts, Diether Lambrechts, Sunit Maity et al. · Nature Biotechnology · 2006 · 907 citations

Life Sciences, Bioinformatics, Genetics +14

Sonic hedgehog is essential to foregut development

Ying Litingtung, Lei Li, Heiner Westphal et al. · Nature Genetics · 1998 · 693 citations

Life Sciences, Biology, Developmental Biology +7

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper et al. · Nature Genetics · 2010 · 674 citations · Full text

Medicine, Genetics, Molecular Genetics +10