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
Name
Brigham and Women's Hospital
Department
Type
DUNS #
030811269
City
Boston
State
MA
Country
United States
Zip Code
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:
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Katwa, Umakanth; D'Gama, Alissa M; Qualls, Anita E et al. (2018) Atypical presentations associated with non-polyalanine repeat PHOX2B mutations. Am J Med Genet A 176:1627-1631
O'Connell, Amy E; Zhou, Fanny; Shah, Manasvi S et al. (2018) Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations. Am J Hum Genet 103:131-137
Holm, Ingrid A; Agrawal, Pankaj B; Ceyhan-Birsoy, Ozge et al. (2018) The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr 18:225
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

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