Pilar Magoulas

Use of Exome Sequencing for Infants in Intensive Care Units

Linyan Meng, Mohan Pammi, Anirudh Saronwala et al. · JAMA Pediatrics · 2017 · 431 citations · Full text

Medicine, Genetics, Pediatrics +14

Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

Seema R. Lalani, Jing Zhang, Christian P. Schaaf et al. · The American Journal of Human Genetics · 2014 · 111 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

Margot R.F. Reijnders, Vasilios Zachariadis, Brooke Latour et al. · The American Journal of Human Genetics · 2016 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome

Bo Yuan, Tamar Harel, Shen Gu et al. · The American Journal of Human Genetics · 2015 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

Nadja Ehmke, Luitgard Graul‐Neumann, Lukasz Smorag et al. · The American Journal of Human Genetics · 2017 · 67 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17