2020
Antenatally detected liver and biliary pathology
Shaughnessy MP, Spencer-Manzon M, Cowles RA. Antenatally detected liver and biliary pathology. Seminars In Pediatric Surgery 2020, 29: 150939. PMID: 32861443, DOI: 10.1016/j.sempedsurg.2020.150939.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus Statements
2018
A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death
Penque BA, Su L, Wang J, Ji W, Bale A, Luh F, Fulbright RK, Sarmast U, Sega AG, Konstantino M, Spencer-Manzon M, Pierce R, Yen Y, Lakhani SA. A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death. European Journal Of Medical Genetics 2018, 62: 103574. PMID: 30439532, DOI: 10.1016/j.ejmg.2018.11.008.Peer-Reviewed Original Research