Julie Hoover-Fong

Julie Hoover-Fong

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Julie Hoover-Fong

Julie Hoover-Fong

Publications by authors named "Julie Hoover-Fong"

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57Publications

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Prenatal diagnosis of Desbuquois dysplasia Type 1: Utilization of high-density SNP array to map homozygosity and identify the gene.

Am J Med Genet A 2019 Oct 6. Epub 2019 Oct 6.

Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of the Department of Genetic Medicine, Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.61372DOI Listing
October 2019

Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders.

Genet Med 2019 Sep 30;21(9):2070-2080. Epub 2019 Jan 30.

Department of Orthopedics and Sports Medicine, Seattle Children's Hospital, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0446-9DOI Listing
September 2019

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.

N Engl J Med 2019 07 18;381(1):25-35. Epub 2019 Jun 18.

From Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Parkville, VIC, Australia (R.S.); Guy's and St. Thomas' NHS Foundation Trust, Evelina Children's Hospital, London (M.I.); Baylor College of Medicine, Houston (C.A.B., B.B.); Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago (J.C.); the Medical Genetics Department, Université Paris Descartes-Sorbonne Paris Cité, INSERM Unité Mixte de Recherche 1163, Institute Imagine, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Paris (V.C.-D., K.-H.L.Q.S.); Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance (P.D.), University of California, San Francisco, Benioff Children's Hospital Oakland, Oakland (P.H.), and BioMarin Pharmaceutical, Novato (A.C., K.J., G.S.J., K.L., M.L.C.) - all in California; Vanderbilt University Medical Center, Nashville (J.P., N.O.); BioMarin, London (A.H.L., J.D.); and Johns Hopkins University School of Medicine, Baltimore (J.H.-F.).

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http://dx.doi.org/10.1056/NEJMoa1813446DOI Listing
July 2019

Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2.

Am J Med Genet A 2019 Mar 23;179(3):410-416. Epub 2019 Jan 23.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.61037DOI Listing
March 2019

Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia.

Am J Obstet Gynecol 2018 12 23;219(6):545-562. Epub 2018 Jul 23.

Department of Orthopedics and Sports Medicine, Seattle Children's Hospital, Seattle, WA; Department of Orthopedics and Sports Medicine, University of Washington, Seattle, WA.

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https://linkinghub.elsevier.com/retrieve/pii/S00029378183059
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http://dx.doi.org/10.1016/j.ajog.2018.07.017DOI Listing
December 2018

Multicenter study of mortality in achondroplasia.

Am J Med Genet A 2018 11 1;176(11):2359-2364. Epub 2018 Oct 1.

Department of Pediatrics, McGovern Medical School at UTHealth, Houston, Texas.

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http://doi.wiley.com/10.1002/ajmg.a.40528
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http://dx.doi.org/10.1002/ajmg.a.40528DOI Listing
November 2018

Associations Between the 2nd to 4th Digit Ratio and Autism Spectrum Disorder in Population-Based Samples of Boys and Girls: Findings from the Study to Explore Early Development.

J Autism Dev Disord 2018 07;48(7):2379-2395

National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Mailstop E-86, 4770 Buford Hwy NE, Atlanta, GA, 30341, USA.

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http://dx.doi.org/10.1007/s10803-018-3495-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5997499PMC
July 2018

Best practices in peri-operative management of patients with skeletal dysplasias.

Am J Med Genet A 2017 Oct 1;173(10):2584-2595. Epub 2017 Aug 1.

Department of Anesthesia, Nemour's Alfred I du Pont Hospital for Children, Wilmington, Delaware.

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http://dx.doi.org/10.1002/ajmg.a.38357DOI Listing
October 2017

Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias.

Qual Life Res 2017 05 19;26(5):1337-1348. Epub 2016 Nov 19.

Department of Surgery, Center for Surgery and Public Health, Brigham & Women's Hospital, Harvard Medical School, Harvard T.H. Chan School of Public Health, Boston, MA, USA.

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http://dx.doi.org/10.1007/s11136-016-1455-7DOI Listing
May 2017

A height-for-age growth reference for children with achondroplasia: Expanded applications and comparison with original reference data.

Am J Med Genet A 2017 May 4;173(5):1226-1230. Epub 2017 Apr 4.

AI DuPont Hospital for Children, Sidney Kimmel Medical College, Thomas Jefferson University, Wilmington, Delaware.

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http://doi.wiley.com/10.1002/ajmg.a.38150
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http://dx.doi.org/10.1002/ajmg.a.38150DOI Listing
May 2017

Skeletal Dysplasias: Growing Therapy for Growing Bones.

Front Pharmacol 2017 6;8:79. Epub 2017 Mar 6.

Genetics, Johns Hopkins University School of Medicine Baltimore, MD, USA.

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http://journal.frontiersin.org/article/10.3389/fphar.2017.00
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http://dx.doi.org/10.3389/fphar.2017.00079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5337493PMC
March 2017

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.

Am J Hum Genet 2016 05 28;98(5):909-918. Epub 2016 Apr 28.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1016/j.ajhg.2016.03.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863664PMC
May 2016

Overview: referrals for genetic evaluation from child psychiatrists.

Child Adolesc Psychiatry Ment Health 2016 28;10. Epub 2016 Mar 28.

Bloomberg Children's Center, 12th Floor, Room 12352, 1800 Orleans Street, Baltimore, MD 21287 USA.

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http://dx.doi.org/10.1186/s13034-016-0095-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4809034PMC
March 2016

Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy.

Am J Med Genet A 2016 Jan 23;170A(1):42-51. Epub 2015 Sep 23.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, University of Melbourne, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37394DOI Listing
January 2016

The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome.

Case Rep Genet 2015 17;2015:169482. Epub 2015 Nov 17.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1155/2015/169482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4664784PMC
December 2015

Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders.

Chest 2015 Oct;148(4):1019-1026

Department of Oncology, Baltimore, MD; Department of Pathology, Baltimore, MD; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD. Electronic address:

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http://dx.doi.org/10.1378/chest.15-0825DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4594621PMC
October 2015

High-dose glucocorticoid therapy in the management of seizures in neonatal incontinentia pigmenti: a case report.

J Child Neurol 2015 Jan 28;30(1):100-6. Epub 2014 Mar 28.

Department of Pediatrics, Eudowood Neonatal Pulmonary Division, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1177/0883073813517509DOI Listing
January 2015

The impact of chromosomal microarray on clinical management: a retrospective analysis.

Genet Med 2014 Sep 13;16(9):657-64. Epub 2014 Mar 13.

1] McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA [2] Cytogenetics Laboratory, Kennedy Krieger Institute, Baltimore, Maryland, USA [3] Department of Pathology, Johns Hopkins University, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2014.18DOI Listing
September 2014

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.

Nat Commun 2014 Jul 22;5:4483. Epub 2014 Jul 22.

1] Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada T2N 4N1 [2] Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, Alberta, Canada T3B 6A8 [3] Department of Computer Science, University of Toronto, Ontario, Canada. [4].

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http://www.nature.com/articles/ncomms5483
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http://dx.doi.org/10.1038/ncomms5483DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4109005PMC
July 2014

Maternal hyperphenylalaninemia: rapid achievement of metabolic control predicts overall control throughout pregnancy.

Mol Genet Metab 2013 May 19;109(1):3-8. Epub 2013 Feb 19.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Blalock 1008, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.02.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3639475PMC
May 2013

PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features.

Hum Mutat 2013 Apr 4;34(4):566-71. Epub 2013 Mar 4.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.

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http://dx.doi.org/10.1002/humu.22283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3627299PMC
April 2013

Normative growth charts for individuals with Costello syndrome.

Am J Med Genet A 2012 Nov 7;158A(11):2692-9. Epub 2012 Aug 7.

Division of General Pediatrics, A. I. duPont Hospital for Children, Wilmington, Delaware 19803, USA.

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http://doi.wiley.com/10.1002/ajmg.a.35534
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http://dx.doi.org/10.1002/ajmg.a.35534DOI Listing
November 2012

Perinatal detection of familial adenomatous polyposis.

Obstet Gynecol 2012 Aug;120(2 Pt 2):500-3

Department of Gynecology and Obstetrics, Division of Maternal Fetal Medicine, Johns Hopkins University, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1097/AOG.0b013e31825f377fDOI Listing
August 2012

Hearing loss in skeletal dysplasia patients.

Am J Med Genet A 2012 Jul 24;158A(7):1551-5. Epub 2012 May 24.

Department of Otolaryngology-Head and Neck Surgery, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287-0910, USA.

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http://dx.doi.org/10.1002/ajmg.a.35373DOI Listing
July 2012

Otolaryngologic manifestations of skeletal dysplasias in children.

Otolaryngol Clin North Am 2012 Jun;45(3):579-98, vii

Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1016/j.otc.2012.03.002DOI Listing
June 2012

Simultaneous segmentation and inhomogeneity correction in magnetic resonance images.

Conf Proc IEEE Eng Med Biol Soc 2011 ;2011:8045-8

Department of Biomedical Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1109/IEMBS.2011.6091984DOI Listing
May 2012

Hearing screening in children with skeletal dysplasia.

Arch Otolaryngol Head Neck Surg 2011 Dec;137(12):1236-9

Johns Hopkins Outpatient Center, 601 N Caroline St, Baltimore, MD 21287-0910, USA.

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http://dx.doi.org/10.1001/archoto.2011.206DOI Listing
December 2011

Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing.

Genome Res 2011 Oct 2;21(10):1720-7. Epub 2011 Sep 2.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1101/gr.122986.111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3202288PMC
October 2011

Mosaic trisomy 13: understanding origin using SNP array.

J Med Genet 2011 May 19;48(5):323-6. Epub 2010 Nov 19.

Institute of Genetic Medicine, Johns Hopkins Medical Institutions, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1136/jmg.2010.083931DOI Listing
May 2011

Genomic analysis of partial 21q monosomies with variable phenotypes.

Eur J Hum Genet 2011 Feb 8;19(2):235-8. Epub 2010 Sep 8.

Program in Human Genetics, Johns Hopkins School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1038/ejhg.2010.150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025784PMC
February 2011

Increased symptoms of attention deficit hyperactivity disorder and major depressive disorder symptoms in Nail-patella syndrome: potential association with LMX1B loss-of-function.

Am J Med Genet B Neuropsychiatr Genet 2011 Jan 2;156B(1):59-66. Epub 2010 Nov 2.

Department of Psychiatry, Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA.

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http://doi.wiley.com/10.1002/ajmg.b.31138
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http://dx.doi.org/10.1002/ajmg.b.31138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3677769PMC
January 2011

Congenital T cell deficiency in a patient with CHARGE syndrome.

J Pediatr 2009 Jan;154(1):140-2

McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University, Baltimore, MD, USA.

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http://dx.doi.org/10.1016/j.jpeds.2008.07.049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4293037PMC
January 2009

Albinism and developmental delay: the need to test for 15q11-q13 deletion.

Pediatr Neurol 2007 Oct;37(4):299-302

Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.06.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2128718PMC
October 2007

Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation.

Pediatrics 2006 Aug 30;118(2):e514-21. Epub 2006 Jun 30.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins Hospital, Children's Center, Johns Hopkins University School of Medicine, 600 N Wolfe St, Blalock 1008, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1542/peds.2005-1307DOI Listing
August 2006

Problematic variation in local institutional review of a multicenter genetic epidemiology study.

JAMA 2003 Jul;290(3):360-6

Bloomberg School of Public Health, Johns Hopkins Medical Institutions, Baltimore, Md, USA.

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http://dx.doi.org/10.1001/jama.290.3.360DOI Listing
July 2003

Facial dysgenesis: a novel facial syndrome with chromosome 7 deletion p15.1-21.1.

Am J Med Genet A 2003 Feb;117A(1):47-56

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287, USA.

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http://dx.doi.org/10.1002/ajmg.a.10046DOI Listing
February 2003