Top 25 Publications from FY17 Based on Impact Factor

  1. Dombi E; Baldwin A; Marcus LJ; Fisher MJ; Weiss B; Kim A; Whitcomb P; Martin S; Aschbacher-Smith LE; Rizvi TA. Activity of Selumetinib in Neurofibromatosis Type 1-Related Plexiform Neurofibromas. The New England journal of medicine. 2016; 375:2550-2560.
  2. Pandey MK; Burrow TA; Rani R; Martin LJ; Witte D; Setchell KD; Mckay MA; Magnusen AF; Zhang W; Liou B. Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease. Nature. 2017; 543:108-112.
  3. Kang E; Wu J; Gutierrez NM; Koski A; Tippner-Hedges R; Agaronyan K; Platero-Luengo A; Martinez-Redondo P; Ma H; Lee Y. Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations. Nature. 2016; 540:270-275.
  4. Arendt D; Musser JM; Baker CVH; Bergman A; Cepko C; Erwin DH; Pavlicev M; Schlosser G; Widder S; Laubichler MD. The origin and evolution of cell types. Nature Reviews: Genetics. 2016; 17:744-757.
  5. Redin C; Brand H; Collins RL; Kammin T; Mitchell E; Hodge JC; Hanscom C; Pillalamarri V; Seabra CM; Abbott MA. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nature Genetics. 2017; 49:36-45.
  6. Newman JH; Rich S; Abman SH; Alexander JH; Barnard J; Beck GJ; Benza RL; Bull TM; Chan SY; Chun HJ. Enhancing Insights into Pulmonary Vascular Disease through a Precision Medicine Approach A Joint NHLBI-Cardiovascular Medical Research and Education Fund Workshop Report. American journal of respiratory and critical care medicine. 2017; 195:1661-1670.
  7. Morris DW; Stucke EM; Martin LJ; Abonia JP; Mukkada VA; Putnam PE; Rothenberg ME; Fulkerson PC. Eosinophil progenitor levels are increased in patients with active pediatric eosinophilic esophagitis. Journal of Allergy and Clinical Immunology. 2016; 138:915-918.e5.
  8. Rubin TS; Zhang K; Gifford C; Lane A; Choo S; Bleesing JJ; Marsh RA. Perforin and CD107a testing is superior to NK cell function testing for screening patients for genetic HLH. Blood. 2017; 129:2993-2999.
  9. Pavlicev M; Wagner GP; Chavan AR; Owens K; Maziarz J; Dunn-Fletcher C; Kallapur SG; Muglia L; Jones H. Single-cell transcriptomics of the human placenta: inferring the cell communication network of the maternal-fetal interface. Genome research. 2017; 27:349-361.
  10. Sanderson SC; Brothers KB; Mercaldo ND; Clayton EW; Antommaria AHM; Aufox SA; Brilliant MH; Campos D; Carrell DS; Connolly J. Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US. The American Journal of Human Genetics. 2017; 100:414-427.
  11. Glauser TA; Holland K; O'Brien VP; Keddache M; Martin LJ; Clark PO; Cnaan A; Dlugos D; Hirtz DG; Shinnar S. Pharmacogenetics of Antiepileptic Drug Efficacy in Childhood Absence Epilepsy. Annals of Neurology. 2017; 81:444-453.
  12. Breugem CC; Evans KN; Poets CF; Suri S; Picard A; Filip C; Paes EC; Mehendale FV; Saal HM; Basart H. Best Practices for the Diagnosis and Evaluation of Infants With Robin Sequence A Clinical Consensus Report. JAMA Pediatrics. 2016; 170:894-902.
  13. Mitteroecker P; Huttegger SM; Fischer B; Pavlicev M. Cliff- edge model of obstetric selection in humans. Proceedings of the National Academy of Sciences of the United States of America. 2016; 113:14680-14685.
  14. Wang M; Peng Y; Zheng J; Zheng B; Jin X; Liu H; Wang Y; Tang X; Huang T; Jiang P. A deafness-associated tRNA(Asp) mutation alters the m(1)G37 modification, aminoacylation and stability of tRNA(Asp) and mitochondrial function. Nucleic Acids Research. 2016; 44:10974-10985.
  15. He JR; Liu Y; Xia XY; Ma WJ; Lin HL; Kan HD; Lu JH; Feng Q; Mo WJ; Wang P. Ambient Temperature and the Risk of Preterm Birth in Guangzhou, China (2001-2011). Environmental health perspectives. 2016; 124:1100- 1106.
  16. Chen JR; Tang ZH; Zheng J; Shi HS; Ding J; Qian XD; Zhang C; Chen JL; Wang CC; Li L. Effects of genetic correction on the differentiation of hair cell-like cells from iPSCs with MYO15A mutation. Cell Death and Differentiation. 2016; 23:1347-1357.
  17. Payne JM; Barton B; Ullrich NJ; Cantor A; Hearps SJC; Cutter G; Rosser T; Walsh KS; Gioia GA; Wolters PL. Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1. Neurology. 2016; 87:2575-2584.
  18. Wolters PL; Martin S; Merker VL; Tonsgard JH; Solomon SE; Baldwin A; Bergner AL; Walsh K; Thompson HL; Gardner KL. Patient-reported outcomes of pain and physical functioning in neurofibromatosis clinical trials. Neurology. 2016; 87:S4-S12.
  19. Berry SA; Leslie ND; Edick MJ; Hiner S; Justice K; Cameron C. Inborn Errors of Metabolism Collaborative: Large-scale collection of data on long-term follow-up for newborn- screened conditions. Genetics in Medicine. 2016; 18:1276-1281.
  20. Brubaker D; Liu Y; Wang J; Tan H; Zhang G; Jacobsson B; Muglia L; Mesiano S; Chance MR. Finding lost genes in GWAS via integrative-omics analysis reveals novel sub-networks associated with preterm birth. Human Molecular Genetics. 2016; 25:ddw325.
  21. Liou B; Peng Y; Li R; Inskeep V; Zhang W; Quinn B; Dasgupta N; Blackwood R; Setchell KDR; Fleming S. Modulating ryanodine receptors with dantrolene attenuates neuronopathic phenotype in Gaucher disease mice. Human Molecular Genetics. 2016; 25:ddw322.
  22. Jiang P; Liang M; Zhang C; Zhao X; He Q; Cui L; Liu X; Sun YH; Fu Q; Ji Y. Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. Human Molecular Genetics. 2016; 25:3613-3625.
  23. Cowan JR; Tariq M; Shaw C; Rao M; Belmont JW; Lalani SR; Smolarek TA; Ware SM. Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects. Philosophical Transactions of the Royal Society of London: Biological Sciences. 2016; 371:20150406.
  24. Yang J; Baer RJ; Berghella V; Chambers C; Chung P; Coker T; Currier RJ; Druzin ML; Kuppermann M; Muglia LJ. Recurrence of Preterm Birth and Early Term Birth. Obstetrics and Gynecology. 2016; 128:364-372.
  25. Ortiz A; Abiose A; Bichet DG; Cabrera G; Charrow J; Germain DP; Hopkin RJ; Jovanovic A; Linhart A; Maruti SS. Time to treatment benefit for adult patients with Fabry disease receiving agalsidase beta: data from the Fabry Registry. Journal of medical genetics. 2016; 53:495-502.