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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2001 1
2004 2
2006 1
2007 1
2008 1
2009 1
2011 3
2012 3
2013 2
2014 5
2015 3
2016 1
2017 3
2018 1
2021 3
2022 2
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Search Results

30 results
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Page 1
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR; Undiagnosed Diseases Network, Westerfield M, De Matteis MA, Lee B. Marom R, et al. Among authors: joeng ks. Am J Hum Genet. 2021 Sep 2;108(9):1710-1724. doi: 10.1016/j.ajhg.2021.08.002. Epub 2021 Aug 26. Am J Hum Genet. 2021. PMID: 34450031 Free PMC article.
Heterozygous WNT1 variant causing a variable bone phenotype.
Alhamdi S, Lee YC, Chowdhury S, Byers PH, Gottschalk M, Taft RJ, Joeng KS, Lee BH, Bird LM. Alhamdi S, et al. Among authors: joeng ks. Am J Med Genet A. 2018 Nov;176(11):2419-2424. doi: 10.1002/ajmg.a.40347. Epub 2018 Sep 24. Am J Med Genet A. 2018. PMID: 30246918 Free PMC article.
WNT7B promotes bone formation in part through mTORC1.
Chen J, Tu X, Esen E, Joeng KS, Lin C, Arbeit JM, Rüegg MA, Hall MN, Ma L, Long F. Chen J, et al. Among authors: joeng ks. PLoS Genet. 2014 Jan 30;10(1):e1004145. doi: 10.1371/journal.pgen.1004145. eCollection 2014 Jan. PLoS Genet. 2014. PMID: 24497849 Free PMC article.
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.
Laine CM, Joeng KS, Campeau PM, Kiviranta R, Tarkkonen K, Grover M, Lu JT, Pekkinen M, Wessman M, Heino TJ, Nieminen-Pihala V, Aronen M, Laine T, Kröger H, Cole WG, Lehesjoki AE, Nevarez L, Krakow D, Curry CJ, Cohn DH, Gibbs RA, Lee BH, Mäkitie O. Laine CM, et al. Among authors: joeng ks. N Engl J Med. 2013 May 9;368(19):1809-16. doi: 10.1056/NEJMoa1215458. N Engl J Med. 2013. PMID: 23656646 Free PMC article.
30 results