The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system.
Mandl, KD; Glauser, T; Krantz, ID; Avillach, P; Bartels, A; Beggs, AH; Biswas, S; Bourgeois, FT; Corsmo, J; Dauber, A; et al.
Genetics in Medicine.
2020;
22:371-380.
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
Helbig, I; Lopez-Hernandez, T; Shor, O; Galer, P; Ganesan, S; Pendziwiat, M; Rademacher, A; Ellis, CA; Hümpfer, N; Schwarz, N; et al.
The American Journal of Human Genetics.
2019;
104:1060-1072.
CNTNAP1-Related Congenital Hypomyelinating Neuropathy.
Lesmana, H; Lee, MV; Hosseini, SA; Burrow, TA; Hallinan, B; Bove, K; Schapiro, M; Hopkin, RJ.
Pediatric Neurology.
2019;
93:43-49.
Pediatric out-of-hospital cardiac arrest: Time to goal target temperature and outcomes.
Moler, FW; Silverstein, FS; Nadkarni, VM; Meert, KL; Shah, SH; Slomine, B; Christensen, J; Holubkov, R; Page, K; Alten, J; et al.
Resuscitation.
2019;
135:88-97.
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.
Coman, D; Vissers, LE L M; Riley, LG; Kwint, MP; Hauck, R; Koster, J; Geuer, S; Hopkins, S; Hallinan, B; Sweetman, L; et al.
The American Journal of Human Genetics.
2018;
103:125-130.
Correlation Among Genotype, Phenotype, and Histology in Neuronal Ceroid Lipofuscinoses: An Individual Patient Data Meta-Analysis.
Aungaroon, G; Hallinan, B; Jain, P; Horn, PS; Spaeth, C; Arya, R.
Pediatric Neurology.
2016;
60:42-48.e4.
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
Nieh, SE; Madou, MR Z; Sirajuddin, M; Fregeau, B; McKnight, D; Lexa, K; Strober, J; Spaeth, C; Hallinan, BE; Smaoui, N; et al.
Annals of Clinical and Translational Neurology.
2015;
2:623-635.