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William Reardon
Researcher at Boston Children's Hospital
Publications - 117
Citations - 9859
William Reardon is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Saethre–Chotzen syndrome & Craniosynostosis. The author has an hindex of 44, co-authored 116 publications receiving 9271 citations. Previous affiliations of William Reardon include University of London & Our Lady's Children's Hospital.
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Journal ArticleDOI
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
Andrew O.M. Wilkie,Andrew O.M. Wilkie,Sarah F. Slaney,Sarah F. Slaney,Michael Oldridge,Michael D. Poole,Geraldine J. Ashworth,Anthony D. Hockley,Richard Hayward,David J. David,L J Pulleyn,Paul Rutland,S. Malcolm,Robin M. Winter,William Reardon +14 more
TL;DR: Specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome are identified.
Journal ArticleDOI
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
Heather C Mefford,Andrew J. Sharp,Carl Baker,Andy Itsara,Zhaoshi Jiang,Karen Buysse,Shuwen Huang,Viv K. Maloney,John A. Crolla,Diana Baralle,Amanda L. Collins,Catherine Mercer,Koenraad Norga,Thomy de Ravel,Koenraad Devriendt,Ernie M.H.F. Bongers,Nicole de Leeuw,William Reardon,Stefania Gimelli,Frédérique Béna,Raoul C.M. Hennekam,Raoul C.M. Hennekam,Alison Male,Lorraine Gaunt,Jill Clayton-Smith,Ingrid Simonic,Soo Mi Park,Sarju G. Mehta,Serena Nik-Zainal,C. Geoffrey Woods,Helen V. Firth,Georgina Parkin,Marco Fichera,Santina Reitano,Mariangela Lo Giudice,Kelly Li,Iris Casuga,Adam Broomer,Bernard Conrad,Markus Schwerzmann,Lorenz Räber,Sabina Gallati,Pasquale Striano,Antonietta Coppola,John Tolmie,Edward S. Tobias,Chris Lilley,Lluís Armengol,Yves Spysschaert,Patrick Verloo,Anja De Coene,Linde Goossens,Geert Mortier,Frank Speleman,Ellen van Binsbergen,Marcel R. Nelen,Ron Hochstenbach,Martin Poot,Louise Gallagher,Michael Gill,Jon McClellan,Mary Claire King,Regina Regan,Cindy Skinner,Roger E. Stevenson,Stylianos E. Antonarakis,Caifu Chen,Xavier Estivill,Björn Menten,Giorgio Gimelli,Susan M. Gribble,Stuart Schwartz,James S. Sutcliffe,Tom Walsh,Samantha J. L. Knight,Jonathan Sebat,Corrado Romano,Charles E. Schwartz,Joris A. Veltman,Bert B.A. de Vries,Joris Vermeesch,John C. K. Barber,Lionel Willatt,May Tassabehji,Evan E. Eichler,Evan E. Eichler +85 more
TL;DR: Recurrent molecular lesions that elude syndromic classification and whose disease manifestations must be considered in a broader context of development as opposed to being assigned to a specific disease are identified.
Journal ArticleDOI
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
TL;DR: Direct sequencing has revealed specific mutations in the B exon of FGFR2 in all nine sporadic and familial cases, including replacement of a cysteine in an immunoglobulin-like domain in five patients.
Journal ArticleDOI
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
Maximilian Muenke,Ute Schell,Andreas Hehr,Nathaniel H. Robin,H W Losken,A Schinzel,L J Pulleyn,Paul Rutland,William Reardon,S. Malcolm +9 more
TL;DR: Evidence is presented that mutations in the fibroblast growth factor receptor-1 (FGFR1) gene, which maps to 8p, cause one form of familial Pfeiffer syndrome, and FGFR1 becomes the third fibro Blast Growth factor receptor to be associated with an autosomal dominant skeletal disorder.
Journal ArticleDOI
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.
Frederick S. Kaplan,Meiqi Xu,Petra Seemann,J. Michael Connor,David L. Glaser,Liam Carroll,Patricia Delai,Elisabeth Fastnacht-Urban,Stephen J. Forman,Gabriele Gillessen-Kaesbach,Julie Hoover-Fong,Bernhard Köster,Richard M. Pauli,William Reardon,Syed Adeel Zaidi,Michael Zasloff,Rolf Morhart,Stefan Mundlos,Stefan Mundlos,Jay C. Groppe,Eileen M. Shore +20 more
TL;DR: Genotype‐phenotype correlation between some ACVR1 mutations and the age of onset of heterotopic ossification or on embryonic skeletal development is observed and protein structure homology modeling predicts that each of the amino acid substitutions activates the ACVR 1 protein to enhance receptor signaling.