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 #
9779353
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
Name
Brigham and Women's Hospital
Department
Type
DUNS #
030811269
City
Boston
State
MA
Country
United States
Zip Code
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 :
Shu, Chang; Huang, He; Xu, Ying et al. (2018) Pressure Overload in Mice With Haploinsufficiency of Striated Preferentially Expressed Gene Leads to Decompensated Heart Failure. Front Physiol 9:863
Quiñones-Pérez, Bianca; VanNoy, Grace E; Towne, Meghan C et al. (2018) Three-generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome. Am J Med Genet A 176:560-569
Lo, Mindy S; Towne, Meghan; VanNoy, Grace E et al. (2018) Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene. J Autoimmun 86:116-119
Wolf, Susan M; Scholtes, Emily; Koenig, Barbara A et al. (2018) Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research Participants. J Law Med Ethics 46:87-109
Murry, Jaclyn B; Machini, Kalotina; Ceyhan-Birsoy, Ozge et al. (2018) Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. Cold Spring Harb Mol Case Stud 4:
Christensen, Kurt D; Uhlmann, Wendy R; Roberts, J Scott et al. (2018) A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone. Genet Med 20:132-141

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