Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Julie E. Hoover-Fong"'
Autor:
Julie E. Hoover-Fong, Kerry J. Schulze, Adekemi Y. Alade, Michael B. Bober, Ethan Gough, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Peggy Modaff, Richard M. Pauli, David F. Rodriguez-Buritica, Maria E. Serna, Cory Smid, Chengxin Liu, John McGready
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-19 (2021)
Abstract Background Achondroplasia is the most common genetic skeletal disorder causing disproportionate short stature/dwarfism. Common additional features include spinal stenosis, midface retrusion, macrocephaly and a generalized spondylometaphyseal
Externí odkaz:
https://doaj.org/article/707aa9ca56ec4482a21feb500c1b0dd1
Autor:
Daniah Albokhari, Amanda Barone Pritchard, Adelyn Beil, Candace Muss, Caleb Bupp, Dorothy K. Grange, Geoffroy Delplancq, Jennifer Heeley, Melissa Zuteck, Michelle M. Morrow, Paul Kuentz, Timothy Blake Palculict, Julie E. Hoover‐Fong
Publikováno v:
American Journal of Medical Genetics Part A. 191:1261-1272
Autor:
Bobby K. Brar, Michael B. Bober, Ethan Gough, S Shahrukh Hashmi, Jacqueline T. Hecht, Lorena Dujmusic, Mary E. Little, Peggy Modaff, Richard M. Pauli, David F. Rodriguez – Buritica, Maria E. Serna, Cory Smid, Janet M. Legare, Julie E. Hoover - Fong
Publikováno v:
Genetics in Medicine. :100845
Autor:
Bobby Brar, Julie E. Hoover-Fong, Ethan Gough, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Lorena Dujmusic, Mary E. Little, Peggy Modaff, Richard M. Pauli, David Rodriguez – Buritica, Maria E. Serna, Cory Smid, Michael B. Bober
Publikováno v:
American Journal of Obstetrics and Gynecology. 228:S612
Autor:
Kimberly Pelak, Kevin V Shianna, Dongliang Ge, Jessica M Maia, Mingfu Zhu, Jason P Smith, Elizabeth T Cirulli, Jacques Fellay, Samuel P Dickson, Curtis E Gumbs, Erin L Heinzen, Anna C Need, Elizabeth K Ruzzo, Abanish Singh, C Ryan Campbell, Linda K Hong, Katharina A Lornsen, Alexander M McKenzie, Nara L M Sobreira, Julie E Hoover-Fong, Joshua D Milner, Ruth Ottman, Barton F Haynes, James J Goedert, David B Goldstein
Publikováno v:
PLoS Genetics, Vol 6, Iss 9, p e1001111 (2010)
We present the analysis of twenty human genomes to evaluate the prospects for identifying rare functional variants that contribute to a phenotype of interest. We sequenced at high coverage ten "case" genomes from individuals with severe hemophilia A
Externí odkaz:
https://doaj.org/article/11d35ff706624861ad364c3bc6c9cd73
Autor:
Dhiman, Nitasha, Albaghdadi, Alia, Sharma, Meesha, Julie E. Hoover-Fong, Ain, Michael C., Haider, Adil H., Zogg, Cheryl K., Hoover-Fong, Julie E
Publikováno v:
Quality of Life Research; May2017, Vol. 26 Issue 5, p1337-1348, 12p, 2 Diagrams, 4 Charts
Autor:
Nara L M Sobreira, Elizabeth T Cirulli, Dimitrios Avramopoulos, Elizabeth Wohler, Gretchen L Oswald, Eric L Stevens, Dongliang Ge, Kevin V Shianna, Jason P Smith, Jessica M Maia, Curtis E Gumbs, Jonathan Pevsner, George Thomas, David Valle, Julie E Hoover-Fong, David B Goldstein
Publikováno v:
PLoS Genetics, Vol 6, Iss 6, p e1000991 (2010)
Although more than 2,400 genes have been shown to contain variants that cause Mendelian disease, there are still several thousand such diseases yet to be molecularly defined. The ability of new whole-genome sequencing technologies to rapidly indentif
Externí odkaz:
https://doaj.org/article/f6de353cf3e240a6bc708768cf380973
Autor:
Reed NS; Nicholas S. Reed (nreed9@jhmi.edu) is an assistant professor in the Department of Epidemiology and in the Cochlear Center for Hearing and Public Health, both at the Johns Hopkins Bloomberg School of Public Health, in Baltimore, Maryland., Assi L; Lama Assi is a trainee in the Cochlear Center for Hearing and Public Health, Johns Hopkins Bloomberg School of Public Health., Horiuchi W; Wakako Horiuchi is a medical student in the John A. Burns School of Medicine, University of Hawaii, in Honolulu, Hawaii., Hoover-Fong JE; Julie E. Hoover-Fong is a professor in the McKusick-Nathans Institute of Genetic Medicine, Department of Genetic Medicine, and the director of the Kathryn and Alan C. Greenberg Center for Skeletal Dysplasias, both at Johns Hopkins School of Medicine, in Baltimore, Maryland., Lin FR; Frank R. Lin is a professor in the Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins School of Medicine, and director of the Cochlear Center for Hearing and Public Health, Johns Hopkins Bloomberg School of Public Health., Ferrante LE; Lauren E. Ferrante is an assistant professor in the Section of Pulmonary, Critical Care, and Sleep Medicine, Department of Internal Medicine, Yale School of Medicine, in New Haven, Connecticut., Inouye SK; Sharon K. Inouye is a professor in the Department of Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, and the director of the Aging Brain Center in the Hinda and Arthur Marcus Institute for Aging Research, Hebrew SeniorLife, both in Boston, Massachusetts., Miller Iii ER; Edgar R. Miller III is a professor in the Department of Medicine, Johns Hopkins School of Medicine., Boss EF; Emily F. Boss is a professor in the Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins School of Medicine., Oh ES; Esther S. Oh is an associate professor in the Department of Medicine, Johns Hopkins School of Medicine., Willink A; Amber Willink is an associate professor at the Menzies Centre for Health Policy and Economics, University of Sydney, in New South Wales, Australia.
Publikováno v:
Health affairs (Project Hope) [Health Aff (Millwood)] 2021 May; Vol. 40 (5), pp. 786-794.