Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

263 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.
Morlino S, Micale L, Ritelli M, Rohrbach M, Zoppi N, Vandersteen A, Mackay S, Agolini E, Cocciadiferro D, Sasaki E, Madeo A, Ferraris A, Reardon W, Di Rocco M, Novelli A, Grammatico P, Malfait F, Mazza T, Hakim A, Giunta C, Colombi M, Castori M. Morlino S, et al. Among authors: reardon w. Clin Genet. 2020 Mar;97(3):396-406. doi: 10.1111/cge.13683. Epub 2019 Dec 12. Clin Genet. 2020. PMID: 31794058
Type VI syndactyly with skeletal dysplasia: a new syndrome?
Sasaki E, Phelan E, Brenner C, Brosnahan D, Reardon W. Sasaki E, et al. Among authors: reardon w. Clin Dysmorphol. 2019 Jan;28(1):30-34. doi: 10.1097/MCD.0000000000000238. Clin Dysmorphol. 2019. PMID: 30138139 No abstract available.
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumić M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ. Amor DJ, et al. Among authors: reardon w. Am J Hum Genet. 2019 May 2;104(5):914-924. doi: 10.1016/j.ajhg.2019.02.026. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982611 Free PMC article.
Novel clinical and genetic insight into CXorf56-associated intellectual disability.
Rocha ME, Silveira TRD, Sasaki E, Sás DM, Lourenço CM, Kandaswamy KK, Beetz C, Rolfs A, Bauer P, Reardon W, Bertoli-Avella AM. Rocha ME, et al. Among authors: reardon w. Eur J Hum Genet. 2020 Mar;28(3):367-372. doi: 10.1038/s41431-019-0558-3. Epub 2019 Dec 10. Eur J Hum Genet. 2020. PMID: 31822863 Free PMC article.
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A. Makrythanasis P, et al. Among authors: reardon w. Clin Genet. 2013 Dec;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26. Clin Genet. 2013. PMID: 23320472
263 results