Julián A. Martínez-Agosto

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

Hane Lee, Joshua L. Deignan, Naghmeh Dorrani et al. · JAMA · 2014 · 969 citations · Full text

A Hedgehog- and Antennapedia-dependent niche maintains Drosophila haematopoietic precursors

Lolitika Mandal, Julián A. Martínez-Agosto, Cory J. Evans et al. · Nature · 2007 · 308 citations · Full text

Pattern Formation, Cell Lineage, Developmental Biology +4

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

Ryan L. Collins, Harrison Brand, Claire Redin et al. · Genome biology · 2017 · 229 citations · Full text

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

Hane Lee, Alden Huang, Lee-kai Wang et al. · Genetics in Medicine · 2019 · 207 citations · Full text

Sequencing, Mendelian Disorder, Diagnostic Utility +7

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

Valerie A. Arboleda, Hane Lee, Rahul Parnaik et al. · Nature Genetics · 2012 · 205 citations · Full text

Genome Instability, Signal Transduction, Genetic Disorder +6