S
Salim Aftimos
Researcher at Auckland City Hospital
Publications - 84
Citations - 3153
Salim Aftimos is an academic researcher from Auckland City Hospital. The author has contributed to research in topics: Trisomy & Short stature. The author has an hindex of 28, co-authored 84 publications receiving 2900 citations. Previous affiliations of Salim Aftimos include Boston Children's Hospital.
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Journal ArticleDOI
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
Michael A. Simpson,Melita Irving,Melita Irving,Esra Asilmaz,Mary J Gray,Dimitra Dafou,Frances Elmslie,Sahar Mansour,Sue E Holder,Caroline Brain,Barbara K. Burton,Katherine H. Kim,Richard M. Pauli,Salim Aftimos,Helen Stewart,Chong Ae Kim,Muriel Holder-Espinasse,Stephen P. Robertson,William Drake,Richard C. Trembath +19 more
TL;DR: An exome-sequencing strategy is used and an allelic series of NOTCH2 mutations in Hajdu-Cheney syndrome are identified, an autosomal dominant multisystem disorder characterized by severe and progressive bone loss.
Journal ArticleDOI
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
Deborah Krakow,Deborah Krakow,Stephen P. Robertson,Lily King,Timothy R. Morgan,Eiman Sebald,Cristina Bertolotto,Sebastian Wachsmann-Hogiu,Dora Acuna,Sandor S. Shapiro,Toshiro Takafuta,Salim Aftimos,Chong Ae Kim,Helen V. Firth,Carlos Eduardo Steiner,Valérie Cormier-Daire,Andrea Superti-Furga,Luisa Bonafé,John M. Graham,John M. Graham,Arthur Grix,Carlos A. Bacino,Judith Allanson,Martin G Bialer,Ralph S. Lachman,Ralph S. Lachman,David L. Rimoin,David L. Rimoin,Daniel H. Cohn,Daniel H. Cohn +29 more
TL;DR: It is found that filamin B is expressed in human growth plate chondrocytes and in the developing vertebral bodies in the mouse, indicating an unexpected role in vertebral segmentation, joint formation and endochondral ossification for this ubiquitously expressed cytoskeletal protein.
Journal ArticleDOI
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
Louise S. Bicknell,Ernie M.H.F. Bongers,Andrea Leitch,Stephen Brown,Jeroen Schoots,Margaret E. Harley,Salim Aftimos,Jumana Y. Al-Aama,Michael B. Bober,Paul A.J. Brown,Hans van Bokhoven,John Dean,Alaa Y Edrees,Murray Feingold,Alan Fryer,Lies H. Hoefsloot,Nikolaus Kau,Nine V A M Knoers,James MacKenzie,John M. Opitz,Pierre Sarda,Alison Ross,I. Karen Temple,Annick Toutain,Carol Wise,Michael Wright,Andrew P. Jackson +26 more
TL;DR: It is reported here that individuals with this disorder show marked locus heterogeneity, and mutations in five separate genes are identified: ORC1, ORC4,ORC6, CDT1 and CDC6, implicating defects in replication licensing as the cause of a genetic syndrome with distinct developmental abnormalities.
Journal ArticleDOI
Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain
Richard J. Gibbons,Satvinder Bachoo,David J. Picketts,Salim Aftimos,Bernhard Asenbauer,JoAnn Bergoffen,Susan A. Berry,Niklas Dahl,Alan Fryer,Kim Keppler,Kenji Kurosawa,Michael L. Levin,Mitsuo Masuno,Giovanni Neri,Mary Ella M Pierpont,Sarah F. Slaney,Douglas R. Higgs +16 more
TL;DR: Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain and the need for further studies to establish its role in medicine.
Journal ArticleDOI
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.
Deborah A. McDermott,Michael Bressan,Jie He,Joseph Lee,Salim Aftimos,Martina Brueckner,Fred Gilbert,Gail E. Graham,Mark C. Hannibal,Jeffrey W. Innis,Mary Ella M Pierpont,Annick Raas-Rothschild,Alan L. Shanske,Wendy E. Smith,Robert H. Spencer,Martin G. St. John-Sutton,Lionel Van Maldergem,Darrel Waggoner,Matthew Weber,Craig T. Basson +19 more
TL;DR: In this paper, a nongenetically selected population of 54 unrelated individuals who were consecutively referred to a center with a clinical diagnosis of Holt-Oram syndrome (HOS) was reported.