Andrea Guerin

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling et al. · npj Genomic Medicine · 2016 · 374 citations · Full text

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

María J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti et al. · The American Journal of Human Genetics · 2020 · 107 citations · Full text

Neurodevelopmental Disorders, Atpase Module, Developmental Anomaly +12

Interstitial deletion of 11q‐implicating the <i>KIRREL3</i> gene in the neurocognitive delay associated with Jacobsen syndrome

Andrea Guerin, Dimitri J. Stavropoulos, Yaser Diab et al. · American Journal of Medical Genetics Part A · 2012 · 57 citations

Stepwise Developmental Regression Associated With Novel CACNA1A Mutation

Andrea Guerin, Annette Feigenbaum, Elizabeth Donner et al. · Pediatric Neurology · 2008 · 51 citations

Developmental Anomaly, Developmental Biology, Genetic Disorder +7

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

Marcello Scala, Masashi Nishikawa, Hidenori Ito et al. · Brain · 2022 · 49 citations · Full text