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

Year Number of Results
2007 1
2008 1
2013 2
2014 6
2015 6
2016 2
2017 2
2018 4
2019 3
2020 5
2021 9
2022 6
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36 results
Results by year
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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: calder ad. 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.
The changing world of skeletal dysplasia.
Calder AD. Calder AD. Lancet Child Adolesc Health. 2020 Apr;4(4):253-254. doi: 10.1016/S2352-4642(20)30056-0. Epub 2020 Feb 28. Lancet Child Adolesc Health. 2020. PMID: 32119838 No abstract available.
Variable skeletal phenotypes associated with biallelic variants in PRKG2.
Pagnamenta AT, Diaz-Gonzalez F, Banos-Pinero B, Ferla MP, Toosi MB, Calder AD, Karimiani EG, Doosti M, Wainwright A, Wordsworth P, Bailey K, Ejeskär K, Lester T, Maroofian R, Heath KE, Tajsharghi H, Shears D, Taylor JC; Genomics England Research Consortium. Pagnamenta AT, et al. Among authors: calder ad. J Med Genet. 2021 Nov 15:jmedgenet-2021-108027. doi: 10.1136/jmedgenet-2021-108027. Online ahead of print. J Med Genet. 2021. PMID: 34782440 Free article. No abstract available.
Achondroplasia: Really rhizomelic?
Shelmerdine SC, Brittain H, Arthurs OJ, Calder AD. Shelmerdine SC, et al. Among authors: calder ad. Am J Med Genet A. 2016 Aug;170(8):2039-43. doi: 10.1002/ajmg.a.37776. Epub 2016 Jun 3. Am J Med Genet A. 2016. PMID: 27257098
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.
Edgerley K, Barnicoat A, Offiah AC, Calder AD, Mankad K, Thomas NS, Bunyan DJ, Williams M, Buxton C, Majumdar A, Vijayakumar K, Hilliard T, Turner J, Burren CP, Monsell F, Smithson SF. Edgerley K, et al. Among authors: calder ad. Am J Med Genet A. 2021 Apr;185(4):1228-1235. doi: 10.1002/ajmg.a.62072. Epub 2021 Jan 13. Am J Med Genet A. 2021. PMID: 33439541 Free article.
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.
Sabir AH, Morley E, Sheikh J, Calder AD, Beleza-Meireles A, Cheung MS, Cocca A, Jansson M, Lillis S, Patel Y, Yau S, Hall CM, Offiah AC, Irving M. Sabir AH, et al. Among authors: calder ad. BMC Med Genomics. 2021 Jun 6;14(1):148. doi: 10.1186/s12920-021-00993-0. BMC Med Genomics. 2021. PMID: 34092239 Free PMC article.
Sedaghatian spondylometaphyseal dysplasia in two siblings.
Peshimam N, Farah H, Caswell R, Ellard S, Jan W, Calder AD, Cobben J, Kariholu U, Leitch HG. Peshimam N, et al. Among authors: calder ad. Eur J Med Genet. 2022 Aug;65(8):104541. doi: 10.1016/j.ejmg.2022.104541. Epub 2022 Jun 16. Eur J Med Genet. 2022. PMID: 35718083 Free article.
36 results