Julie Hoover-Fong, Ph.D.
Affiliations: | 2008 | Johns Hopkins University, Baltimore, MD |
Area:
Medicine and SurgeryGoogle:
"Julie Hoover-Fong"Parents
Sign in to add mentor| Garry R. Cutting | grad student | 2008 | Johns Hopkins | |
| (Lipid imbalance in cystic fibrosis.) | ||||
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Publications
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| White KK, Bober MB, Cho TJ, et al. (2020) Best practice guidelines for management of spinal disorders in skeletal dysplasia. Orphanet Journal of Rare Diseases. 15: 161 |
| Savarirayan R, Bompadre V, Bober MB, et al. (2019) Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders. Genetics in Medicine : Official Journal of the American College of Medical Genetics |
| White JJ, Mazzeu JF, Coban-Akdemir Z, et al. (2017) WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. American Journal of Human Genetics |
| Lee CS, Fu H, Baratang N, et al. (2017) Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". American Journal of Human Genetics. 101: 815-823 |
| Acuna-Hidalgo R, Deriziotis P, Steehouwer M, et al. (2017) Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. Plos Genetics. 13: e1006683 |
| Jelin AC, Blakemore K, Valle D, et al. (2017) 201: Fetal skeletal disorders: what is our overall diagnostic capability using phenotype and molecular laboratory tests currently available in clinical practice? American Journal of Obstetrics and Gynecology. 216: S129 |
| You J, Sobreira NL, Gable DL, et al. (2016) A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. American Journal of Human Genetics |
| Press KR, Wieczorek L, Hoover-Fong J, et al. (2016) Overview: referrals for genetic evaluation from child psychiatrists. Child and Adolescent Psychiatry and Mental Health. 10: 7 |
| Sheridan MB, Wohler E, Batista DA, et al. (2015) The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome. Case Reports in Genetics. 2015: 169482 |
| Fleming L, Lemmon M, Beck N, et al. (2015) Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. American Journal of Medical Genetics. Part A |