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, G; Hopkin, RJ; Niu, D; Thomas, M; Trimarchi, H; et al.
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;
25:100670-100670.
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.
XY gonadal dysgenesis in a phenotypic female identified by direct-to-consumer genetic testing.
Kim, A; Abell, K; Johnson, J; Cizek, S; Breech, L; Ernst, MM; Hopkin, RJ; Kennedy, K; Stanek, J; Strine, AC; et al.
Pediatrics.
2020;
146:e20193302-e20193302.
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: A consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.
Germain, DP; Oliveira, JP; Bichet, DG; Yoo, H; Hopkin, RJ; Lemay, R; Politei, J; Wanner, C; Wilcox, WR; Warnock, DG.
Journal of Medical Genetics.
2020;
57:542-551.
Early behavioral and developmental interventions in ADNP-syndrome: A case report of SWI/SNF-related neurodevelopmental syndrome.
Shillington, A; Pedapati, E; Hopkin, R; Suhrie, K.
Molecular Genetics and Genomic Medicine.
2020;
8.
Confirmatory testing illustrates additional risks for structural sex chromosome abnormalities in fetuses with a non-invasive prenatal screen positive for monosomy X.
Sund, KL; Khattar, D; Boomer, T; Caldwell, S; Dyer, L; Hopkin, RJ; Smolarek, TA.
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics.
2020;
184:294-301.
Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms.
Chung, H; Wangler, MF; Marcogliese, PC; Jo, J; Ravenscroft, TA; Zuo, Z; Duraine, L; Sadeghzadeh, S; Li-Kroeger, D; Schmidt, RE; et al.
Neuron.
2020;
106:589-606.e6.
Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism.
Gupta, A; Dsouza, NR; Zarate, YA; Lombardo, R; Hopkin, R; Linehan, AR; Simpson, J; McCarrier, J; Agre, KE; Gavrilova, RH; et al.
European Journal of Medical Genetics.
2020;
63:103817-103817.
Health care supervision for children with Williams syndrome.
Morris, CA; Braddock, SR; Chen, E; Trotter, TL; Berry, SA; Burke, LW; Geleske, TA; Hamid, R; Hopkin, RJ; Introne, WJ; et al.
Pediatrics.
2020;
145:e20193761-e20193761.