M
Matthew L. Warman
Researcher at Boston Children's Hospital
Publications - 208
Citations - 23498
Matthew L. Warman is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: LRP5 & Cartilage. The author has an hindex of 72, co-authored 202 publications receiving 21175 citations. Previous affiliations of Matthew L. Warman include Howard Hughes Medical Institute & Van Andel Institute.
Papers
More filters
Journal ArticleDOI
LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development
Yaoqin Gong,R. B. Slee,Naomi Fukai,Georges Rawadi,Sergio Roman-Roman,Anthony M. Reginato,H. W. Wang,Tim Cundy,Francis H. Glorieux,Dorit Lev,M. Zacharin,Konrad Oexle,Jose Marcelino,Wafaa M. Suwairi,Shauna Heeger,G. Sabatakos,Suneel S. Apte,W. N. Adkins,J. Allgrove,M. Arslan-Kirchner,J. A. Batch,Peter Beighton,Graeme C.M. Black,R. G. Boles,L. M. Boon,C. Borrone,Han G. Brunner,G. F. Carle,Bruno Dallapiccola,A. De Paepe,B. Floege,M. L. Halfhide,Barbara Hall,Raoul C.M. Hennekam,Tatsuo Hirose,A. Jans,Harald Jüppner,Chong Ae Kim,K. Keppler-Noreuil,A. Kohlschuetter,Didier Lacombe,M. Lambert,E. Lemyre,T. Letteboer,Leena Peltonen,Rajkumar Ramesar,M. Romanengo,H. Somer,E. Steichen-Gersdorf,Beat Steinmann,Beth A. Sullivan,Andrea Superti-Furga,W. Swoboda,M. J. van den Boogaard,W. Van Hul,Miikka Vikkula,Marcela Votruba,Bernhard Zabel,Teresa Garcia,Roland Baron,Bjorn R. Olsen,Matthew L. Warman +61 more
TL;DR: It is reported that LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass accrual during growth and is important for the establishment of peak bone mass.
Journal ArticleDOI
Preparation of PCR-quality mouse genomic DNA with hot sodium hydroxide and tris (HotSHOT)
TL;DR: The HotSHOT method is rapid, inexpensive and may be carried out in 96-well plates, making it amenable to automation and high-throughput genotyping, and finds it remarkably consistent.
Journal ArticleDOI
Vascular Dysmorphogenesis Caused by an Activating Mutation in the Receptor Tyrosine Kinase TIE2
Miikka Vikkula,Laurence M. Boon,Kermit L. Carraway,Jennifer T. Calvert,A. John Diamonti,Boyan C. Goumnerov,Krystyna A. Pasyk,Douglas A. Marchuk,Matthew L. Warman,Lewis C. Cantley,John B. Mulliken,Bjorn R. Olsen +11 more
TL;DR: It is concluded that an activating mutation in TIE2 causes inherited VMs in the two families and that the TIE1 signaling pathway is critical for endothelial cell-smooth muscle cell communication in venous morphogenesis.
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
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis
Ethylin Wang Jabs,Ulrich Müller,Xiang Li,Liang Ma,Wen Luo,Ian S. Haworth,Ivana Klisak,Robert S. Sparkes,Matthew L. Warman,John B. Mulliken,Malcolm L. Snead,Robert E. Maxson +11 more
TL;DR: Results provide compelling evidence that the mutation causes this craniosynostosis syndrome, and a histidine substitutes for a highly conserved proline at position 7 of the MSX2 homeodomain exclusively in affected members.