Julie Hoover-Fong, Ph.D. - Publications

2008 Johns Hopkins University, Baltimore, MD 
Medicine and Surgery

29 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
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  0.48
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  0.48
2016 White KK, Savarirayan R, Goldberg MJ, MacKenzie W, Bompadre V, Bober MB, Cho TJ, Hoover-Fong J, Parnell SE, Raggio C, Spencer SA, Campbell JW, Rapoport DM, Kifle Y, Blackledge M. Response: "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy" and "is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?" American Journal of Medical Genetics. Part A. PMID 26754314 DOI: 10.1002/ajmg.a.37546  0.48
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  0.52
2015 White KK, Bompadre V, Goldberg MJ, Bober MB, Campbell JW, Cho TJ, Hoover-Fong J, Mackenzie W, Parnell SE, Raggio C, Rapoport DM, Spencer SA, Savarirayan R. Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy. American Journal of Medical Genetics. Part A. PMID 26394886 DOI: 10.1002/ajmg.a.37394  0.48
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  0.48
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  0.48
2015 Wolf DS, Golden WC, Hoover-Fong J, Applegate C, Cohen BA, Germain-Lee EL, Goldberg MF, Crawford TO, Gauda EB. High-dose glucocorticoid therapy in the management of seizures in neonatal incontinentia pigmenti: a case report. Journal of Child Neurology. 30: 100-6. PMID 24682289 DOI: 10.1177/0883073813517509  0.48
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  0.48
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  0.48
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  0.48
2013 Schulze KJ, Alade YA, McGready J, Hoover-Fong JE. Body mass index (BMI): the case for condition-specific cut-offs for overweight and obesity in skeletal dysplasias. American Journal of Medical Genetics. Part A. 161: 2110-2. PMID 23798488 DOI: 10.1002/ajmg.a.35947  0.48
2013 Martino T, Koerner C, Yenokyan G, Hoover-Fong J, Hamosh A. Maternal hyperphenylalaninemia: rapid achievement of metabolic control predicts overall control throughout pregnancy. Molecular Genetics and Metabolism. 109: 3-8. PMID 23537842 DOI: 10.1016/j.ymgme.2013.02.009  0.48
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  0.48
2011 Sobreira NL, Gnanakkan V, Walsh M, Marosy B, Wohler E, Thomas G, Hoover-Fong JE, Hamosh A, Wheelan SJ, Valle D. Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing. Genome Research. 21: 1720-7. PMID 21890680 DOI: 10.1101/gr.122986.111  0.48
2011 López-Arvizu C, Sparrow EP, Strube MJ, Slavin C, DeOleo C, James J, Hoover-Fong J, McIntosh I, Tierney E. Increased symptoms of attention deficit hyperactivity disorder and major depressive disorder symptoms in Nail-patella syndrome: potential association with LMX1B loss-of-function. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 156: 59-66. PMID 21184584 DOI: 10.1002/ajmg.b.31138  0.48
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  0.48
2011 Roberson ED, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J. Genomic analysis of partial 21q monosomies with variable phenotypes. European Journal of Human Genetics : Ejhg. 19: 235-8. PMID 20823914 DOI: 10.1038/ejhg.2010.150  0.48
2010 Pelak K, Shianna KV, Ge D, Maia JM, Zhu M, Smith JP, Cirulli ET, Fellay J, Dickson SP, Gumbs CE, Heinzen EL, Need AC, Ruzzo EK, Singh A, Campbell CR, ... ... Hoover-Fong JE, et al. The characterization of twenty sequenced human genomes. Plos Genetics. 6: e1001111. PMID 20838461 DOI: 10.1371/journal.pgen.1001111  0.48
2010 Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, Gumbs CE, Pevsner J, Thomas G, Valle D, Hoover-Fong JE, et al. Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. Plos Genetics. 6: e1000991. PMID 20577567 DOI: 10.1371/journal.pgen.1000991  0.48
2009 Miller ND, Nance MA, Wohler ES, Hoover-Fong JE, Lisi E, Thomas GH, Pevsner J. Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function. American Journal of Medical Genetics. Part A. 149: 669-80. PMID 19253379 DOI: 10.1002/ajmg.a.32705  0.48
2009 Hoover-Fong J, Savage WJ, Lisi E, Winkelstein J, Thomas GH, Hoefsloot LH, Loeb DM. Congenital T cell deficiency in a patient with CHARGE syndrome. The Journal of Pediatrics. 154: 140-2. PMID 19187738 DOI: 10.1016/j.jpeds.2008.07.049  0.48
2008 Mardo V, Squibb EE, Braverman N, Hoover-Fong JE, Migeon C, Batista DA, Thomas GH. Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development. American Journal of Medical Genetics. Part A. 146: 2293-7. PMID 18661548 DOI: 10.1002/ajmg.a.32316  0.48
2007 Saadeh R, Lisi EC, Batista DA, McIntosh I, Hoover-Fong JE. Albinism and developmental delay: the need to test for 15q11-q13 deletion. Pediatric Neurology. 37: 299-302. PMID 17903679 DOI: 10.1016/j.pediatrneurol.2007.06.024  0.52
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  0.48
2006 Cohn RD, Eklund E, Bergner AL, Casella JF, Woods SL, Althaus J, Blakemore KJ, Fox HE, Hoover-Fong JE, Hamosh A, Braverman NE, Freeze HH, Boyadjiev SA. Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation. Pediatrics. 118: e514-21. PMID 16816004 DOI: 10.1542/peds.2005-1307  0.48
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  0.48
2003 Hoover-Fong JE, Cai J, Cargile CB, Thomas GH, Patel A, Griffin CA, Jabs EW, Hamosh A. Facial dysgenesis: a novel facial syndrome with chromosome 7 deletion p15.1-21.1. American Journal of Medical Genetics. Part A. 117: 47-56. PMID 12548740 DOI: 10.1002/ajmg.a.10046  0.48
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