Development of the Fabry Disease Patient-Reported Outcome (FD-PRO): a new instrument to measure the symptoms and impacts of Fabry Disease.
Hamed, A; DasMahapatra, P; Lyn, N; Gwaltney, C; Hopkin, RJ.
Orphanet Journal of Rare Diseases.
2021;
16.
Like Mother, Like Daughter: Feeding Intolerance in the NICU.
Khattar, D; Hopkin, RJ.
NeoReviews.
2021;
22:e774-e777.
Burden of Valvular Heart Disease in Patients with Fabry Disease.
Yogasundaram, H; Nikhanj, A; Chatur, S; Qi, A; Hagen, L; Bailey, L; Khan, A; Hopkin, RJ; Fine, NM; Jefferies, JL; et al.
Journal of the American Society of Echocardiography.
2021.
Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d-transposition of the great arteries.
Shillington, A; Zea Vera, A; Perry, T; Hopkin, R; Thomas, C; Cooper, D; Suhrie, K.
Molecular genetics & genomic medicine.
2021;
9.
Short- and Long-Term Outcomes of Prenatally Diagnosed Dandy-Walker Malformation, Vermian Hypoplasia, and Blake Pouch Cyst.
Venkatesan, C; Kline- Fath, B; Horn, PS; Poisson, KE; Hopkin, R; Nagaraj, UD.
Journal of Child Neurology.
2021;
36:1111-1119.
Leukodystrophies in Children: Diagnosis, Care, and Treatment.
Bonkowsky, JL; Keller, S; AAP Section on Neurology, Council on Genetics, .
Pediatrics.
2021;
148.
Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines.
Li, M; Glass, J; Du, X; Dubbs, H; Harr, MH; Falk, M; Smolarek, T; Hopkin, RJ; Zackai, E; Sheppard, SE.
American Journal of Medical Genetics, Part A.
2021;
185:2374-2383.
Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.
Li, C; Desai, AK; Gupta, P; Dempsey, K; Bhambhani, V; Hopkin, RJ; Ficicioglu, C; Tanpaiboon, P; Craigen, WJ; Rosenberg, AS; et al.
Genetics in Medicine.
2021;
23:845-855.
Fetal Magnetic Resonance Imaging (MRI) in Holoprosencephaly and Associations With Clinical Outcome: Implications for Fetal Counseling.
Riddle, A; Nagaraj, U; Hopkin, RJ; Kline-Fath, B; Venkatesan, C.
Journal of Child Neurology.
2021;
36:357-364.
Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.
Abell, K; Hopkin, RJ; Bender, PL; Jackson, F; Smallwood, K; Sullivan, B; Stottmann, RW; Saal, HM; Weaver, KN.
American Journal of Medical Genetics, Part A.
2021;
185:413-423.