C
Christine Hall
Researcher at Great Ormond Street Hospital
Publications - 171
Citations - 8076
Christine Hall is an academic researcher from Great Ormond Street Hospital. The author has contributed to research in topics: Dysplasia & Messenger RNA. The author has an hindex of 45, co-authored 167 publications receiving 7597 citations. Previous affiliations of Christine Hall include University of London & Great Ormond Street Hospital for Children NHS Foundation Trust.
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Journal ArticleDOI
Nosology and classification of genetic skeletal disorders : 2010 revision
Matthew L. Warman,Valérie Cormier-Daire,Christine Hall,Deborah Krakow,Deborah Krakow,Ralph S. Lachman,Martine Lemerrer,Geert Mortier,Stefan Mundlos,Gen Nishimura,David L. Rimoin,Stephen P. Robertson,Ravi Savarirayan,David Sillence,J. Spranger,Sheila Unger,Sheila Unger,Bernhard Zabel,Andrea Superti-Furga,Andrea Superti-Furga +19 more
TL;DR: The Nosology is a hybrid between a list of clinically defined disorders, waiting for molecular clarification, and an annotated database documenting the phenotypic spectrum produced by mutations in a given gene.
Journal ArticleDOI
Bcr encodes a GTPase-activating protein for p21rac.
Dagmar Diekmann,Suzanne Brill,Michelle D. Garrett,Nicholas F. Totty,J. Justin Hsuan,Clinton Monfries,Christine Hall,Louis Lim,Alan Hall +8 more
TL;DR: It is shown that the carboxy-terminal domains of the bcr-encoded protein (Bcr) and of a Bcr-related protein, n-chimaerin, are both GAP proteins for the Ras-related GTP-binding protein, p21rac, which suggests that Bcr could be a target for regulation by Rac and has important new implications for the role of bcr translocations in leukaemia.
Journal ArticleDOI
Nosology and classification of genetic skeletal disorders: 2015 revision
Luisa Bonafé,Valérie Cormier-Daire,Christine Hall,Ralph S. Lachman,Geert Mortier,Stefan Mundlos,Stefan Mundlos,Gen Nishimura,Luca Sangiorgi,Ravi Savarirayan,David Sillence,J. Spranger,Andrea Superti-Furga,Matthew L. Warman,Sheila Unger +14 more
TL;DR: The nosology can also serve as a reference for the creation of locus‐specific databases that are expected to help in delineating genotype–phenotype correlations and to harbor the information that will be gained by combining clinical observations and next generation sequencing results.
Journal ArticleDOI
Nosology and classification of genetic skeletal disorders: 2019 revision.
Geert Mortier,Daniel H. Cohn,Valérie Cormier-Daire,Christine Hall,Deborah Krakow,Stefan Mundlos,Gen Nishimura,Stephen P. Robertson,Luca Sangiorgi,Ravi Savarirayan,David Sillence,Andrea Superti-Furga,Sheila Unger,Matthew L. Warman +13 more
TL;DR: This newest and tenth version of the Nosology comprises 461 different diseases that are classified into 42 groups based on their clinical, radiographic, and/or molecular phenotypes and remarkable, pathogenic variants affecting 437 different genes have been found in 425/461 (92%) of these disorders.
Journal ArticleDOI
Regulation of phosphorylation pathways by p21 GTPases. The p21 Ras-related Rho subfamily and its role in phosphorylation signalling pathways.
TL;DR: Members of the Rho subfamily, and kinases that bind to these p21s are intimately involved in immediate morphological processes as well as long-term transcriptional events, with their associated kinases having a role in the integration of the reorganization of the actin cytoskeleton.