Miguel Del Campo

The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly

Luisa Nanni, Jeffrey E. Ming, Maureen Bocian et al. · Human Molecular Genetics · 1999 · 360 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus

Martin J. Somerville, Carolyn Β. Mervis, Edwin J. Young et al. · New England Journal of Medicine · 2005 · 315 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

Thomas Cullup, Ay Lin Kho, Carlo Dionisi‐Vici et al. · Nature Genetics · 2012 · 280 citations

Life Sciences, Genetics, Molecular Genetics +14

The phenotypic spectrum of congenital Zika syndrome

Miguel Del Campo, Ian M. L. Feitosa, Erlane Marques Ribeiro et al. · American Journal of Medical Genetics Part A · 2017 · 216 citations · Full text

Medicine, Infectious Diseases, Pediatrics +17

An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm

David Dimmock, Michelle M. Clark, Mary Gaughran et al. · The American Journal of Human Genetics · 2020 · 190 citations · Full text

Life Sciences, Genetics, Pediatrics +15