Damien L. Bruno

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

Sarah E. Calvo, Alison G. Compton, Steven G. Hershman et al. · Science Translational Medicine · 2012 · 474 citations

Life Sciences, Genetics, Molecular Genetics +15

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Sarah E. Calvo, Elena J. Tucker, Alison G. Compton et al. · Nature Genetics · 2010 · 361 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

Emilia K. Bijlsma, A.C.J. Gijsbers, Janneke Schuurs-Hoeijmakers et al. · European Journal of Medical Genetics · 2009 · 292 citations

Life Sciences, Genetics, Molecular Genetics +16

Identification of SOX3 as an XX male sex reversal gene in mice and humans

Edwina Sutton, James Hughes, Stefan J. White et al. · Journal of Clinical Investigation · 2010 · 280 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

Damien L. Bruno, Britt‐Marie Anderlid, Anna Lindstrand et al. · Journal of Medical Genetics · 2010 · 166 citations

Life Sciences, Genetics, Molecular Genetics +16