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1

Normative growth charts for individuals with Costello syndrome

Mary R. Sammon, Dan Doyle, Elizabeth Hopkins, Katia Sol-Church, Deborah L. Stabley, John McGready, Kerry Schulze, Yewande Alade, Julie Hoover-Fong, Karen W. Gripp

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 1.92 MB

english, 2012

2

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

Schieve, Laura A., Tian, Lin, Dowling, Nicole, Croen, Lisa, Hoover-Fong, Julie, Alexander, Aimee, Shapira, Stuart K.

Journal:

Journal of Autism and Developmental Disorders

Year:

2018

Language:

english

File:

PDF, 817 KB

english, 2018

3

Best practice guidelines for management of spinal disorders in skeletal dysplasia

White, Klane K., Bober, Michael B., Cho, Tae-Joon, Goldberg, Michael J., Hoover-Fong, Julie, Irving, Melita, Kamps, Shawn E., Mackenzie, William G., Raggio, Cathleen, Spencer, Samantha A., Bompadre, V

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 538 KB

2020

4

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

Julie E. Hoover-Fong, J. Cai, C.B. Cargile, G.H. Thomas, A. Patel, C.A. Griffin, E.W. Jabs, A. Hamosh

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 270 KB

english, 2003

5

Weight for age charts for children with achondroplasia

J.E. Hoover-Fong, J. McGready, K.J. Schulze, H. Barnes, C.I. Scott

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 743 KB

english, 2007

6

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

Veronica Mardo, Elizabeth E. Squibb, Nancy Braverman, Julie E. Hoover-Fong, Claude Migeon, Denise A.S. Batista, George H. Thomas

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 220 KB

english, 2008

7

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

Nathaniel D. Miller, Melonie A. Nance, Elizabeth S. Wohler, Julie E. Hoover-Fong, Emily Lisi, George H. Thomas, Jonathan Pevsner

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 969 KB

english, 2009

8

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

Carmen López-Arvizu, Elizabeth P. Sparrow, Michael J Strube, Chris Slavin, Caroline DeOleo, Justin James, Julie Hoover-Fong, Iain McIntosh, Elaine Tierney

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2011

Language:

english

File:

PDF, 146 KB

english, 2011

9

Nail Patella Syndrome Revisited: 50 Years After Linkage

I. McIntosh, J. A. Dunston, L. Liu, J. E. Hoover-Fong, E. Sweeney

Journal:

Annals of Human Genetics

Year:

2005

Language:

english

File:

PDF, 301 KB

english, 2005

10

Genomic analysis of partial 21q monosomies with variable phenotypes

Roberson, Elisha D O, Wohler, Elizabeth Squibb, Hoover-Fong, Julie E, Lisi, Emily, Stevens, Eric L, Thomas, George H, Leonard, Jay, Hamosh, Ada, Pevsner, Jonathan

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 238 KB

english, 2010

11

Gabapentin interference with urine histidine as measured by the Beckman amino acid analyser

J.E. Hoover-Fong, M.T. Geraghty, G.V. Raymond, G.H. Thomas

Journal:

Journal of Inherited Metabolic Disease

Year:

2001

Language:

english

File:

PDF, 35 KB

english, 2001

12

Hearing loss in skeletal dysplasia patients

David Tunkel, Yewande Alade, Richard Kerbavaz, Beth Smith, Danielle Rose-Hardison, Julie Hoover-Fong

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 109 KB

english, 2012

13

Obstetrics and obstetrical anesthesia issues in women with DWARFISM

Julie Hoover-Fong, Gretchen Oswald, Dee Miller, Jennifer Leadroot, Hillary Barnes, Donald Penning, Ivor Berkowitz, Deborah Krakow, Judith Rossiter

Journal:

American Journal of Obstetrics and Gynecology

Year:

2006

Language:

english

File:

PDF, 119 KB

english, 2006

14

Congenital T Cell Deficiency in a Patient with CHARGE Syndrome

Julie Hoover-Fong, William J. Savage, Emily Lisi, Jerry Winkelstein, George H. Thomas, Lies H. Hoefsloot, David M. Loeb

Journal:

The Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 182 KB

english, 2009

15

Albinism and Developmental Delay: The Need to Test for 15q11-q13 Deletion

Reem Saadeh, Emily C. Lisi, Denise A.S. Batista, Iain McIntosh, Julie E. Hoover-Fong

Journal:

Pediatric Neurology

Year:

2007

Language:

english

File:

PDF, 683 KB

english, 2007

16

Body Composition and Resting Energy Expenditure in Short Stature Adults: A Field Study

J. Hoover-Fong, B. Henry, A.M. Yahner, Y. Alade, C. Koerner

Journal:

Journal of the Academy of Nutrition and Dietetics

Year:

2012

Language:

english

File:

PDF, 60 KB

english, 2012

17

Achondroplasia Adult Diet Compared to Average American Diet

B. Henry, C. Koerner, Y. Alade, J. Hoover-Fong

Journal:

Journal of the Academy of Nutrition and Dietetics

Year:

2012

Language:

english

File:

PDF, 61 KB

english, 2012

18

Relative Contribution of Genetic and Nongenetic Modifiers to Intestinal Obstruction in Cystic Fibrosis

Scott M. Blackman, Rebecca Deering–Brose, Rita McWilliams, Kathleen Naughton, Barbara Coleman, Teresa Lai, Marilyn Algire, Suzanne Beck, Julie Hoover-Fong, Ada Hamosh, M. Daniele Fallin, Kristen West,

Journal:

Gastroenterology

Year:

2006

Language:

english

File:

PDF, 254 KB

english, 2006

19

Deletion of MAP2K2/MEK2 : a novel mechanism for a RASopathy?

Nowaczyk, M.J.M., Thompson, B.A., Zeesman, S., Moog, U., Sanchez-Lara, P.A., Magoulas, P.L., Falk, R.E., Hoover-Fong, J.E., Batista, D.A.S., Amudhavalli, S.M., White, S.M., Graham, G.E., Rauen, K.A.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 910 KB

english, 2014

20

Otolaryngologic Manifestations of Skeletal Dysplasias in Children

Lyford-Pike, Sofia, Hoover-Fong, Julie, Tunkel, David E.

Journal:

Otolaryngologic Clinics of North America

Year:

2012

Language:

english

File:

PDF, 710 KB

english, 2012

21

[IEEE 2011 33rd Annual International Conference of the IEEE Engineering in Medicine and Biology Society - Boston, MA (2011.08.30-2011.09.3)] 2011 Annual International Conference of the IEEE Engineering in Medicine and Biology Society - Simultaneous segmentation and inhomogeneity correction in magnetic resonance images

Yue Li,, Hoover-Fong, Julie, Carrino, J. A., Mori, S.

Year:

2011

Language:

english

File:

PDF, 425 KB

english, 2011

22

Maternal Hyperphenylalaninemia: Rapid achievement of metabolic control predicts overall control throughout pregnancy

Martino, Teresa, Koerner, Celide, Yenokyan, Gayane, Hoover-Fong, Julie, Hamosh, Ada

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 647 KB

english, 2013

23

Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Hoover-Fong, Julie, Sobreira, Nara, Jurgens, Julie, Modaff, Peggy, Blout, Carrie, Moser, Ann, Kim, Ok-Hwa, Cho, Tae-Joon, Cho, Sung Yoon, Kim, Sang Jin, Jin, Dong-Kyu, Kitoh, Hiroshi, Park, Woong-Yang

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 547 KB

english, 2014

24

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

Henderson, Lindsay B., Applegate, Carolyn D., Wohler, Elizabeth, Sheridan, Molly B., Hoover-Fong, Julie, Batista, Denise A.S.

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 427 KB

english, 2014

25

High-Dose Glucocorticoid Therapy in the Management of Seizures in Neonatal Incontinentia Pigmenti: A Case Report

Wolf, D. S., Golden, W. C., Hoover-Fong, J., Applegate, C., Cohen, B. A., Germain-Lee, E. L., Goldberg, M. F., Crawford, T. O., Gauda, E. B.

Journal:

Journal of Child Neurology

Year:

2015

Language:

english

File:

PDF, 378 KB

english, 2015

26

Body mass index (BMI): The case for condition-specific cut-offs for overweight and obesity in skeletal dysplasias

Schulze, Kerry J., Alade, Yewande Adekemi, McGready, John, Hoover-Fong, Julie E.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 70 KB

english, 2013

27

Cross-sectional assessment of pain and physical function in skeletal dysplasia patients

Alade, Y, Tunkel, D, Schulze, K, McGready, J, Jallo, G, Ain, M, Yost, T, Hoover-Fong, J

Journal:

Clinical Genetics

Year:

2013

Language:

english

File:

PDF, 623 KB

english, 2013

28

PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features

Hamosh, Ada, Sobreira, Nara, Hoover-Fong, Julie, Sutton, V. Reid, Boehm, Corinne, Schiettecatte, François, Valle, David

Journal:

Year:

2013

Language:

english

File:

PDF, 475 KB

english, 2013

29

Isolated pediatric hemihyperplasia requiring surgical debulking of the thigh

Schultz, Benjamin D., Coon, Devin, Medina, Miguel, Hoover-Fong, Julie, Sponseller, Paul D., Dorafshar, Amir H.

Journal:

Journal of Pediatric Surgery Case Reports

Year:

2015

Language:

english

File:

PDF, 210 KB

english, 2015

30

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

Sobreira, N. L. M., Gnanakkan, V., Walsh, M., Marosy, B., Wohler, E., Thomas, G., Hoover-Fong, J. E., Hamosh, A., Wheelan, S. J., Valle, D.

Journal:

Genome Research

Year:

2011

Language:

english

File:

PDF, 941 KB

english, 2011

31

Mosaic trisomy 13: understanding origin using SNP array

Jinawath, N., Zambrano, R., Wohler, E., Palmquist, M. K., Hoover-Fong, J., Hamosh, A., Batista, D. A. S.

Journal:

Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 578 KB

english, 2011

32

Intracranial Hemorrhage as the Initial Manifestation of a Congenital Disorder of Glycosylation

Cohn, R. D., Eklund, E., Bergner, A. L., Casella, J. F., Woods, S. L., Althaus, J., Blakemore, K. J., Fox, H. E., Hoover-Fong, J. E., Hamosh, A., Braverman, N. E., Freeze, H. H., Boyadjiev, S. A.

Journal:

Year:

2006

Language:

english

File:

PDF, 126 KB

english, 2006

33

Natural history of nonketotic hyperglycinemia in 65 patients

Hoover-Fong, J. E., Shah, S., Van Hove, J. L.K., Applegarth, D., Toone, J., Hamosh, A.

Journal:

Year:

2004

Language:

english

File:

PDF, 231 KB

english, 2004

34

Heritability of Lung Disease Severity in Cystic Fibrosis

Vanscoy, Lori L., Blackman, Scott M., Collaco, Joseph M., Bowers, Amanda, Lai, Teresa, Naughton, Kathleen, Algire, Marilyn, McWilliams, Rita, Beck, Suzanne, Hoover-Fong, Julie, Hamosh, Ada, Cutler, Da

Journal:

American Journal of Respiratory and Critical Care Medicine

Year:

2007

Language:

english

File:

PDF, 823 KB

english, 2007

35

Overview: referrals for genetic evaluation from child psychiatrists

Press, Katharine R., Wieczorek, Laura, Hoover-Fong, Julie, Bodurtha, Joann, Taylor, Lynn

Journal:

Child and Adolescent Psychiatry and Mental Health

Year:

2016

Language:

english

File:

PDF, 746 KB

english, 2016

36

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?”

White, Klane K., Savarirayan, Ravi, Goldberg, Michael J., MacKenzie, William, Bompadre, Viviana, Bober, Michael B., Cho, Tae-Joon, Hoover-Fong, Julie, Parnell, Shawn E., Raggio, Cathleen, Spencer, Sam

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 63 KB

english, 2016

37

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

Sobreira, Nara, Modaff, Peggy, Steel, Gary, You, Jing, Nanda, Sonia, Hoover-Fong, Julie, Valle, David, Pauli, Richard M.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 458 KB

english, 2015

38

The society for craniofacial genetics and developmental biology 38th annual meeting

Taneyhill, Lisa A., Hoover-Fong, Julie, Lozanoff, Scott, Marcucio, Ralph, Richtsmeier, Joan T., Trainor, Paul A.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 243 KB

english, 2016

39

Perinatal Detection of Familial Adenomatous Polyposis

Birsner, Meredith L., Hoover-Fong, Julie, Bytyci Telegrafi, Aida, Hueppchen, Nancy A.

Journal:

Obstetrics & Gynecology

Year:

2012

Language:

english

File:

PDF, 591 KB

english, 2012

40

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

White, Klane K., Bompadre, Viviana, Goldberg, Michael J., Bober, Michael B., Campbell, Jeffrey W., Cho, Tae-Joon, Hoover-Fong, Julie, Mackenzie, William, Parnell, Shawn E., Raggio, Cathleen, Rapoport,

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 186 KB

english, 2016

41

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/ PIGN -related epilepsy

Fleming, Leah, Lemmon, Monica, Beck, Natalie, Johnson, Maria, Mu, Weiyi, Murdock, David, Bodurtha, Joann, Hoover-Fong, Julie, Cohn, Ronald, Bosemani, Thangamadhan, Barañano, Kristin, Hamosh, Ada

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 814 KB

english, 2016

42

Hepatopulmonary Syndrome Is a Frequent Cause of Dyspnea in the Short Telomere Disorders

Gorgy, Amany I., Jonassaint, Naudia L., Stanley, Susan E., Koteish, Ayman, DeZern, Amy E., Walter, Jolan E., Sopha, Sabrina C., Hamilton, James P., Hoover-Fong, Julie, Chen, Allen R., Anders, Robert A

Journal:

Year:

2015

Language:

english

File:

PDF, 1.64 MB

english, 2015

43

33 ANTHROPOMETRIC CHARTS FOR ACHONDROPLASIA AND OTHER SKELETAL DYSPLASIAS.

Hoover-Fong, J. E., McGready, J., Schulze, K. J., Barnes, H., Scott, C. I.

Journal:

Journal of Investigative Medicine

Year:

2006

Language:

english

File:

PDF, 137 KB

english, 2006

44

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

Dhiman, Nitasha, Albaghdadi, Alia, Zogg, Cheryl K., Sharma, Meesha, Hoover-Fong, Julie E., Ain, Michael C., Haider, Adil H.

Journal:

Quality of Life Research

Year:

2017

Language:

english

File:

PDF, 460 KB

english, 2017

45

201: Fetal skeletal disorders: what is our overall diagnostic capability using phenotype and molecular laboratory tests currently available in clinical practice?

Jelin, Angie C., Blakemore, Karin, Valle, David, Hoover-Fong, Julie

Journal:

American Journal of Obstetrics and Gynecology

Year:

2017

Language:

english

File:

PDF, 343 KB

english, 2017

46

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

Hoover-Fong, Julie, McGready, John, Schulze, Kerry, Alade, Adekemi Yewande, Scott, Charles I

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 1.08 MB

english, 2017

47

Endoscopic surgery for patients with syndromic craniosynostosis and the requirement for additional open surgery

Hersh, David S., Hoover-Fong, Julie E., Beck, Natalie, Dorafshar, Amir H., Ahn, Edward S.

Journal:

Journal of Neurosurgery Pediatrics

Year:

2017

Language:

english

File:

PDF, 6.20 MB

english, 2017

48

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

White, Klane K., Bompadre, Viviana, Goldberg, Michael J., Bober, Michael B., Cho, Tae-Joon, Hoover-Fong, Julie E., Irving, Melita, Mackenzie, William G., Kamps, Shawn E., Raggio, Cathleen, Redding, Gr

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 610 KB

english, 2017

49

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Acuna-Hidalgo, Rocio, Deriziotis, Pelagia, Steehouwer, Marloes, Gilissen, Christian, Graham, Sarah A., van Dam, Sipko, Hoover-Fong, Julie, Telegrafi, Aida B., Destree, Anne, Smigiel, Robert, Lambie, L

Journal:

Year:

2017

Language:

english

File:

PDF, 2.26 MB

english, 2017

50

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

Sheridan, Molly B., Wohler, Elizabeth, Batista, Denise A. S., Applegate, Carolyn, Hoover-Fong, Julie

Journal:

Case Reports in Genetics

Year:

2015

Language:

english

File:

PDF, 1.71 MB

english, 2015