Matthew A. Lines
National Cancer Institute(MY)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Genomics and Rare Diseases, ATP Synthase and ATPases Research, RNA modifications and cancer
Most-Cited Works
- → Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome(2012)243 cited
- → Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly(2012)215 cited
- → Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome(2012)186 cited
- → Molecular genetics of Axenfeld-Rieger malformations(2002)171 cited
- → DNM1L-related mitochondrial fission defect presenting as refractory epilepsy(2015)139 cited
- → Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit(2016)100 cited
- → Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease(2017)91 cited
- → PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights(2018)87 cited
- → Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update(2015)74 cited
- → Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling(2019)71 cited