|
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
|
|
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
|
Showing the most recent 10 out of 77 publications
