Agency
National Institute of Health (NIH)
Institute
National Institute of General Medical Sciences (NIGMS)
Type
Institutional National Research Service Award (T32)
Project #
5T32GM007454-23
Application #
2872460
Study Section
National Institute of General Medical Sciences Initial Review Group (BRT)
Project Start
1977-07-01
Project End
2002-06-30
Budget Start
1999-07-01
Budget End
2000-06-30
Support Year
23
Fiscal Year
1999
Total Cost
Indirect Cost
Name
University of Washington
Department
Internal Medicine/Medicine
Type
Schools of Medicine
DUNS #
135646524
City
Seattle
State
WA
Country
United States
Zip Code
98195
Chang, Irene J; Sun, Angela; Bouchard, Maryse L et al. (2018) Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants. Am J Med Genet A 176:1675-1679
Collins, Christopher J; Chang, Irene J; Jung, Sunhee et al. (2018) Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots. Front Immunol 9:2756
Byers, Heather M; Chen, Maida; Gelfand, Andrew S et al. (2018) Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions. Am J Med Genet A 176:1398-1404
Bozarth, Xiuhua; Dines, Jennifer N; Cong, Qian et al. (2018) Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy. Am J Med Genet A 176:2733-2739
Starr, Michelle C; Chang, Irene J; Finn, Laura S et al. (2018) COQ2 nephropathy: a treatable cause of nephrotic syndrome in children. Pediatr Nephrol 33:1257-1261
Chang, Irene J; Adam, Margaret P; Jayadev, Suman et al. (2018) Novel pregnancy-triggered episodes of CAPOS syndrome. Am J Med Genet A 176:235-240
Kow, Rebecca L; Sikkema, Carl; Wheeler, Jeanna M et al. (2018) DOPA Decarboxylase Modulates Tau Toxicity. Biol Psychiatry 83:438-446
Matreyek, Kenneth A; Starita, Lea M; Stephany, Jason J et al. (2018) Multiplex assessment of protein variant abundance by massively parallel sequencing. Nat Genet 50:874-882
Byers, Heather M; Mohnach, Lauren H; Fechner, Patricia Y et al. (2017) Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency. Am J Med Genet C Semin Med Genet 175:260-267
Leppig, Kathleen A; Thiese, Heidi A; Carrel, David et al. (2017) Building a family network from genetic testing. Mol Genet Genomic Med 5:122-129

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