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Julie Hoover-Fong, Ph.D. - Publications

Affiliations: 
2008 Johns Hopkins University, Baltimore, MD 
Area:
Medicine and Surgery
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22 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 White KK, Bober MB, Cho TJ, Goldberg MJ, Hoover-Fong J, Irving M, Kamps SE, Mackenzie WG, Raggio C, Spencer SA, Bompadre V, Savarirayan R. Best practice guidelines for management of spinal disorders in skeletal dysplasia. Orphanet Journal of Rare Diseases. 15: 161. PMID 32580780 DOI: 10.1186/S13023-020-01415-7  0.318
2019 Savarirayan R, Bompadre V, Bober MB, Cho TJ, Goldberg MJ, Hoover-Fong J, Irving M, Kamps SE, Mackenzie WG, Raggio C, Spencer SS, White KK. 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. PMID 30696995 DOI: 10.1038/S41436-019-0446-9  0.343
2017 White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, ... Hoover-Fong J, et al. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. American Journal of Human Genetics. PMID 29276006 DOI: 10.1016/J.Ajhg.2017.10.002  0.373
2017 Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, et al. Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". American Journal of Human Genetics. 101: 815-823. PMID 29100092 DOI: 10.1016/J.Ajhg.2017.09.019  0.314
2017 Acuna-Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham SA, van Dam S, Hoover-Fong J, Telegrafi AB, Destree A, Smigiel R, Lambie LA, Kayserili H, Altunoglu U, Lapi E, Uzielli ML, et al. Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. Plos Genetics. 13: e1006683. PMID 28346496 DOI: 10.1371/Journal.Pgen.1006683  0.343
2017 Jelin AC, Blakemore K, Valle D, Hoover-Fong J. 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. DOI: 10.1016/J.Ajog.2016.11.106  0.328
2016 You J, Sobreira NL, Gable DL, Jurgens J, Grange DK, Belnap N, Siniard A, Szelinger S, Schrauwen I, Richholt RF, Vallee SE, Dinulos MB, Valle D, Armanios M, Hoover-Fong J. A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. American Journal of Human Genetics. PMID 27132593 DOI: 10.1016/J.Ajhg.2016.03.014  0.327
2016 Press KR, Wieczorek L, Hoover-Fong J, Bodurtha J, Taylor L. Overview: referrals for genetic evaluation from child psychiatrists. Child and Adolescent Psychiatry and Mental Health. 10: 7. PMID 27022409 DOI: 10.1186/S13034-016-0095-6  0.324
2015 Sheridan MB, Wohler E, Batista DA, Applegate C, Hoover-Fong J. 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. PMID 26664771 DOI: 10.1155/2015/169482  0.662
2015 Fleming L, Lemmon M, Beck N, Johnson M, Mu W, Murdock D, Bodurtha J, Hoover-Fong J, Cohn R, Bosemani T, Barañano K, Hamosh A. Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. American Journal of Medical Genetics. Part A. PMID 26394714 DOI: 10.1002/Ajmg.A.37369  0.369
2015 Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, ... Hoover-Fong J, et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. American Journal of Human Genetics. 97: 199-215. PMID 26166479 DOI: 10.1016/J.Ajhg.2015.06.009  0.377
2015 Gorgy AI, Jonassaint NL, Stanley SE, Koteish A, DeZern AE, Walter JE, Sopha SC, Hamilton JP, Hoover-Fong J, Chen AR, Anders RA, Kamel IR, Armanios M. Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders. Chest. PMID 26158642 DOI: 10.1378/Chest.15-0825  0.353
2015 Sobreira N, Modaff P, Steel G, You J, Nanda S, Hoover-Fong J, Valle D, Pauli RM. An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias. American Journal of Medical Genetics. Part A. 167: 159-63. PMID 25348816 DOI: 10.1002/Ajmg.A.36808  0.32
2014 Lynch DC, Revil T, Schwartzentruber J, Bhoj EJ, Innes AM, Lamont RE, Lemire EG, Chodirker BN, Taylor JP, Zackai EH, McLeod DR, Kirk EP, Hoover-Fong J, Fleming L, Savarirayan R, et al. Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome. Nature Communications. 5: 4483. PMID 25047197 DOI: 10.1038/Ncomms5483  0.328
2014 Henderson LB, Applegate CD, Wohler E, Sheridan MB, Hoover-Fong J, Batista DA. The impact of chromosomal microarray on clinical management: a retrospective analysis. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 657-64. PMID 24625444 DOI: 10.1038/Gim.2014.18  0.647
2014 Hoover-Fong J, Sobreira N, Jurgens J, Modaff P, Blout C, Moser A, Kim OH, Cho TJ, Cho SY, Kim SJ, Jin DK, Kitoh H, Park WY, Ling H, Hetrick KN, et al. Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy. American Journal of Human Genetics. 94: 105-12. PMID 24387990 DOI: 10.1016/J.Ajhg.2013.11.018  0.347
2013 Hamosh A, Sobreira N, Hoover-Fong J, Sutton VR, Boehm C, Schiettecatte F, Valle D. PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features Human Mutation. 34: 566-571. PMID 23378291 DOI: 10.1002/Humu.22283  0.344
2011 Jinawath N, Zambrano R, Wohler E, Palmquist MK, Hoover-Fong J, Hamosh A, Batista DA. Mosaic trisomy 13: understanding origin using SNP array. Journal of Medical Genetics. 48: 323-6. PMID 21097773 DOI: 10.1136/Jmg.2010.083931  0.316
2009 Kaplan FS, Xu M, Seemann P, Connor JM, Glaser DL, Carroll L, Delai P, Fastnacht-Urban E, Forman SJ, Gillessen-Kaesbach G, Hoover-Fong J, Köster B, Pauli RM, Reardon W, Zaidi SA, et al. Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Human Mutation. 30: 379-90. PMID 19085907 DOI: 10.1002/Humu.20868  0.343
2007 Vanscoy LL, Blackman SM, Collaco JM, Bowers A, Lai T, Naughton K, Algire M, McWilliams R, Beck S, Hoover-Fong J, Hamosh A, Cutler D, Cutting GR. Heritability of lung disease severity in cystic fibrosis. American Journal of Respiratory and Critical Care Medicine. 175: 1036-43. PMID 17332481 DOI: 10.1164/Rccm.200608-1164Oc  0.48
2006 Blackman SM, Deering-Brose R, McWilliams R, Naughton K, Coleman B, Lai T, Algire M, Beck S, Hoover-Fong J, Hamosh A, Fallin MD, West K, Arking DE, Chakravarti A, Cutler DJ, et al. Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis. Gastroenterology. 131: 1030-9. PMID 17030173 DOI: 10.1053/J.Gastro.2006.07.016  0.483
2003 McWilliams R, Hoover-Fong J, Hamosh A, Beck S, Beaty T, Cutting G. Problematic variation in local institutional review of a multicenter genetic epidemiology study. Jama. 290: 360-6. PMID 12865377 DOI: 10.1001/Jama.290.3.360  0.489
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