Robin sequence without cleft palate: Genetic diagnoses and management implications.
Weaver, KN; Sullivan, BR; Balow, SA; Hopkin, S; Chini, BA; Pan, BS; Stottmann, RW; Bender, PL; Hopkin, RJ; Zhang, X; et al.
American Journal of Medical Genetics, Part A.
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.
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.
CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresia.
Simpson, BN; Khattar, D; Saal, H; Prada, CE; Choo, D; Marcheschi, L; Wiley, S; Hopkin, RJ.
European Journal of Medical Genetics.
2021;
64.
Fabry disease and COVID-19: international expert recommendations for management based on real-world experience.
Laney, DA; Germain, DP; Oliveira, JP; Burlina, AP; Cabrera, GH; Hong, GR; Hopkin, RJ; Niu, DM; Thomas, M; Trimarchi, H; et al.
CKJ: Clinical Kidney Journal.
2020;
13:913-925.
Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype.
Hopkin, RJ; Feldt-Rasmussen, U; Germain, DP; Jovanovic, A; Martins, AM; Nicholls, K; Ortiz, A; Politei, J; Ponce, E; Varas, C; et al.
Molecular Genetics and Metabolism Reports.
2020;
25.
Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes.
Abell, K; Tolusso, L; Smith, N; Hopkin, R; Vawter-Lee, M; Habli, M; Riddle, S; Calvo-Garcia, MA; Guan, Q; Bierbrauer, K; et al.
Birth Defects Research.
2020;
112:1733-1737.