Követés
JULIE HOOVER-FONG
JULIE HOOVER-FONG
Johns Hopkins University, Department of Genetic Medicine, Greenberg Center for Skeletal Dysplasias
E-mail megerősítve itt: jhmi.edu
Cím
Hivatkozott rá
Hivatkozott rá
Év
The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities
JX Chong, KJ Buckingham, SN Jhangiani, C Boehm, N Sobreira, ...
The American Journal of Human Genetics 97 (2), 199-215, 2015
2012*2015
P heno DB: A New Web‐Based Tool for the Collection, Storage, and Analysis of Phenotypic Features
A Hamosh, N Sobreira, J Hoover‐Fong, VR Sutton, C Boehm, ...
Human mutation 34 (4), 566-571, 2013
252*2013
Heritability of lung disease severity in cystic fibrosis
LL Vanscoy, SM Blackman, JM Collaco, A Bowers, T Lai, K Naughton, ...
American journal of respiratory and critical care medicine 175 (10), 1036-1043, 2007
2512007
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene
NLM Sobreira, ET Cirulli, D Avramopoulos, E Wohler, GL Oswald, ...
PLoS genetics 6 (6), e1000991, 2010
2472010
Problematic variation in local institutional review of a multicenter genetic epidemiology study
R McWilliams, J Hoover-Fong, A Hamosh, S Beck, T Beaty, G Cutting
Jama 290 (3), 360-366, 2003
2472003
Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis
SM Blackman, R Deering–Brose, R McWilliams, K Naughton, B Coleman, ...
Gastroenterology 131 (4), 1030-1039, 2006
2112006
The characterization of twenty sequenced human genomes
K Pelak, KV Shianna, D Ge, JM Maia, M Zhu, JP Smith, ET Cirulli, J Fellay, ...
PLoS genetics 6 (9), e1001111, 2010
2022010
Natural history of nonketotic hyperglycinemia in 65 patients
JE Hoover-Fong, S Shah, JLK Van Hove, D Applegarth, J Toone, ...
Neurology 63 (10), 1847-1853, 2004
1962004
C-type natriuretic peptide analogue therapy in children with achondroplasia
R Savarirayan, M Irving, CA Bacino, B Bostwick, J Charrow, ...
New England Journal of Medicine 381 (1), 25-35, 2019
1932019
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial
R Savarirayan, L Tofts, M Irving, W Wilcox, CA Bacino, J Hoover-Fong, ...
The Lancet 396 (10252), 684-692, 2020
1602020
Health supervision for people with achondroplasia
J Hoover-Fong, CI Scott, MC Jones, E Chen, TL Trotter, SA Berry, ...
Pediatrics 145 (6), 2020
1452020
WNT signaling perturbations underlie the genetic heterogeneity of Robinow syndrome
JJ White, JF Mazzeu, Z Coban-Akdemir, Y Bayram, V Bahrambeigi, ...
The American Journal of Human Genetics 102 (1), 27-43, 2018
1302018
Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders
AI Gorgy, NL Jonassaint, SE Stanley, A Koteish, AE DeZern, JE Walter, ...
Chest 148 (4), 1019-1026, 2015
1292015
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia
R Savarirayan, P Ireland, M Irving, D Thompson, I Alves, WAR Baratela, ...
Nature Reviews Endocrinology 18 (3), 173-189, 2022
1172022
Age-appropriate body mass index in children with achondroplasia: interpretation in relation to indexes of height
JE Hoover-Fong, KJ Schulze, J McGready, H Barnes, CI Scott
The American journal of clinical nutrition 88 (2), 364-371, 2008
912008
Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy
KK White, V Bompadre, MJ Goldberg, MB Bober, JW Campbell, TJ Cho, ...
American journal of medical genetics Part A 170 (1), 42-51, 2016
882016
Weight for age charts for children with achondroplasia
JE Hoover‐Fong, J McGready, KJ Schulze, H Barnes, CI Scott
American Journal of Medical Genetics Part A 143 (19), 2227-2235, 2007
882007
The impact of chromosomal microarray on clinical management: a retrospective analysis
LB Henderson, CD Applegate, E Wohler, MB Sheridan, J Hoover-Fong, ...
Genetics in Medicine 16 (9), 657-664, 2014
832014
Lifetime impact of achondroplasia: current evidence and perspectives on the natural history
J Hoover-Fong, MS Cheung, V Fano, L Hagenas, JT Hecht, P Ireland, ...
Bone 146, 115872, 2021
782021
A height‐for‐age growth reference for children with achondroplasia: Expanded applications and comparison with original reference data
J Hoover‐Fong, J McGready, K Schulze, AY Alade, CI Scott
American journal of medical genetics Part A 173 (5), 1226-1230, 2017
752017
A rendszer jelenleg nem tudja elvégezni a műveletet. Próbálkozzon újra később.
Cikkek 1–20