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.
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1.
Koczkowska, M; Callens, T; Chen, Y; Gomes, A; Hicks, AD; Sharp, A; Johns, E; Uhas, KA; Armstrong, L; Bosanko, KA; et al.
Human Mutation.
2020;
41:299-315.
Novel parent-of-origin-specific differentially methylated loci on chromosome 16.
Schulze, KV; Szafranski, P; Lesmana, H; Hopkin, RJ; Hamvas, A; Wambach, JA; Shinawi, M; Zapata, G; Carvalho, CM B; Liu, Q; et al.
Clinical Epigenetics.
2019;
11.
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Konrad, ED H; Nardini, N; Caliebe, A; Nagel, I; Young, D; Horvath, G; Santoro, SL; Shuss, C; Ziegler, A; Bonneau, D; et al.
Genetics in Medicine.
2019;
21:2723-2733.
Prenatal evaluation of the Sakoda complex.
Nagaraj, UD; Moudgal, R; Hopkin, RJ; Venkatesan, C; Kline-Fath, BM.
Pediatric Radiology: roentgenology, nuclear medicine, ultrasonics, CT, MRI.
2019;
49:1843-1847.
Genomic education for the next generation of health-care providers.
Campion, M; Goldgar, C; Hopkin, RJ; Prows, CA; Dasgupta, S.
Genetics in Medicine.
2019;
21:2422-2430.
Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.
Russell, BE; Rigueur, D; Weaver, KN; Sund, K; Basil, JS; Hufnagel, RB; Prows, CA; Oestreich, A; AlGazali, L; Hopkin, RJ; et al.
Molecular Genetics and Genomic Medicine.
2019;
7.
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Magini, P; Smits, DJ; Vandervore, L; Schot, R; Columbaro, M; Kasteleijn, E; van der Ent, M; Palombo, F; Lequin, MH; Dremmen, M; et al.
The American Journal of Human Genetics.
2019;
105:689-705.
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
Accogli, A; Calabretta, S; St-Onge, J; Boudrahem-Addour, N; Dionne-Laporte, A; Joset, P; Azzarello-Burri, S; Rauch, A; Krier, J; Fieg, E; et al.
The American Journal of Human Genetics.
2019;
105:854-868.
Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence.
Lukacs, M; Gilley, J; Zhu, Y; Orsomando, G; Angeletti, C; Liu, J; Yang, X; Park, J; Hopkin, RJ; Coleman, MP; et al.
Experimental Neurology.
2019;
320:112961-112961.