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Daniel S. Lieber, Ph.D.

(617) 575-9383  |  dslieber [at]




  1. DS Lieber, SG Hershman, NG Slate, SE Calvo, KB Sims, JD Schmahmann, VK Mootha. Next generation sequencing with copy-number-variant detection expands the phenotypic spectrum of HSD17B4-deficiency. BMC Medical Genetics (2014)
  2. GJ Hildick-Smith, JD Cooney, C Garone, LS Kremer, TB Haack, ... , DS Lieber, SE Calvo, ... , H Prokisch, VK Mootha, S DiMauro, BH Paw. “Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.” Am. Journal of Human Genetics (2014)
  3. DS Lieber, SE Calvo, K Shanahan, NG Slate, S Liu, SG Hershman, NB Gold, BA Chapman, DR Thorburn, GT Berry, JD Schmahmann, ML Borowsky, DM Mueller, KB Sims, VK Mootha. “Targeted exome sequencing of suspected mitochondrial disorders.” Neurology (2013)
  4. AA Caudy, Y Guan, Y Jia, C Hansen, C DeSevo, AP Hayes, ... , D Lieber, ..., C Crutchfield, M McClean, CT Murphy, M Llinás, D Botstein, OG Troyanskaya, MJ Dunham. “A new system for comparative functional genomics of Saccharomyces yeasts. Genetics. (2013)
  5. SE Calvo, AG Compton, SG Hershman, SC Lim, DS Lieber, EJ Tucker, A Laskowski, C Garone, S Liu, DB Jaffe, J Christodoulou, JM Fletcher, DL Bruno, J Goldblatt, S DiMauro, DR Thorburn, VK Mootha. “Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next- Generation Sequencing.” Science Translational Medicine (2012)
  6. DS Lieber, SB Vafai, LC Horton, NG Slate, S Liu, ML Borowsky, SE Calvo, JD Schmahmann, VK Mootha. “Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.” BMC Medical Genetics (2012)
  7. DS Lieber, O Elemento, & S Tavazoie. “Large-scale discovery and characterization of protein regulatory motifs in eukaryotes.” PLoS ONE (2010)
  8. R Shalgi, D Lieber, M Oren, & Y Pilpel. “Global and local architecture of the mammalian microRNA-transcription factor regulatory network.” PloS Computational Biology (2007)



Programming: Python, Java, Scala, Perl, Matlab, C, SQL, UNIX/bash
Bioinformatics tools: GATK, samtools, bedtools, Picard, BWA, IGV, BLAST
Platforms: AWS (S3, EC2), JIRA, Github