Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Di Donato, N; Guerrini, R; Billington, CJ; Barkovich, AJ; Dinkel, P; Freri, E; Heide, M; Gershon, ES; Gertler, TS; Hopkin, RJ; et al.
Brain.
2022;
145:3274-3287.
Arrhythmia Burden and Heart Rate Response During Exercise in Anderson-Fabry Disease.
Powell, AW; Wittekind, SG; Mays, WA; Lang, SM; Knilans, TK; Prada, CE; Hopkin, RJ; Chin, C.
Texas Heart Institute Journal.
2022;
49.
A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disorders.
Shillington, A; Lamy, M; Dominick, KC; Sorter, M; Erickson, CA; Hopkin, R.
Frontiers in Genetics.
2022;
13.
Health Supervision for Children and Adolescents With Down Syndrome.
Bull, MJ; Trotter, T; Santoro, SL; Christensen, C; COUNCIL ON GENETICS, ; Burke, LW; Berry, SA; Geleske, TA; Holm, I; Hopkin, RJ; et al.
Pediatrics.
2022;
149.
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
Angelozzi, M; Karvande, A; Molin, AN; Ritter, AL; Leonard, JM M; Savatt, JM; Douglass, K; Myers, SM; Grippa, M; Tolchin, D; et al.
Journal of Medical Genetics.
2022.
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.
2022;
35:236-238.
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.
2022;
188:160-177.
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.
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.