Funding Agency

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Program--Cooperative Agreements (U19)
Project #
3U19HD077671-05S1
Application #
9779354
Study Section
Special Emphasis Panel (ZHD1)
Program Officer
Parisi, Melissa
Project Start
2013-09-05
Project End
2019-08-31
Budget Start
2017-09-01
Budget End
2018-08-31
Support Year
5
Fiscal Year
2018
Total Cost
Indirect Cost

  Institution

Name
Brigham and Women's Hospital
Department
Type
DUNS #
030811269
City
Boston
State
MA
Country
United States
Zip Code

  Publications

Wojcik, Monica H; Schwartz, Talia S; Yamin, Inbar et al. (2018) Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities. Genet Med 20:1396-1404
Rodan, Lance H; Hauptman, Marissa; D'Gama, Alissa M et al. (2018) Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies. Mol Genet Metab 124:161-167
Huntoon, Virginia; Widrick, Jeffrey J; Sanchez, Colline et al. (2018) SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling. Hum Mol Genet 27:1608-1617
Ridge, Perry G; Wadsworth, Mark E; Miller, Justin B et al. (2018) Assembly of 809 whole mitochondrial genomes with clinical, imaging, and fluid biomarker phenotyping. Alzheimers Dement 14:514-519
Prado, Maria G; Iversen, Maura D; Yu, Zhi et al. (2018) Effectiveness of a Web-Based Personalized Rheumatoid Arthritis Risk Tool With or Without a Health Educator for Knowledge of Rheumatoid Arthritis Risk Factors. Arthritis Care Res (Hoboken) 70:1421-1430
Guan, Yue; Roter, Debra L; Wolff, Jennifer L et al. (2018) The impact of genetic counselors' use of facilitative strategies on cognitive and emotional processing of genetic risk disclosure for Alzheimer's disease. Patient Educ Couns 101:817-823
Fan, Xin; Xie, Bobo; Zou, Jun et al. (2018) Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency. Mol Genet Metab Rep 16:15-19
Schwartz, Talia S; Wojcik, Monica H; Pelletier, Renee C et al. (2018) Expanding the phenotypic spectrum associated with OPHN1 variants. Eur J Med Genet :
Sparks, Jeffrey A; Iversen, Maura D; Yu, Zhi et al. (2018) Disclosure of Personalized Rheumatoid Arthritis Risk Using Genetics, Biomarkers, and Lifestyle Factors to Motivate Health Behavior Improvements: A Randomized Controlled Trial. Arthritis Care Res (Hoboken) 70:823-833
Genetti, Casie A; Schwartz, Talia S; Robinson, Jill O et al. (2018) Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project. Genet Med :

Showing the most recent 10 out of 77 publications