Robert L. Conway
Michigan United(US)Michigan Ear Institute(US)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Folate and B Vitamins Research, Fetal and Pediatric Neurological Disorders, Vascular Malformations and Hemangiomas, Neonatal Health and Biochemistry
Most-Cited Works
- → De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes(2012)745 cited
- → Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2(2007)250 cited
- → Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis(2012)236 cited
- → PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution(2016)185 cited
- → Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients(2007)119 cited
- → Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease(2012)86 cited
- → Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders(2016)84 cited
- PIK3CA-Related Segmental Overgrowth(2013)
- → Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years(2014)49 cited
- → Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A(2016)48 cited