J
Jan Maarten Cobben
Researcher at Boston Children's Hospital
Publications - 64
Citations - 2742
Jan Maarten Cobben is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Osteogenesis imperfecta & SMA*. The author has an hindex of 24, co-authored 61 publications receiving 2385 citations. Previous affiliations of Jan Maarten Cobben include Northwick Park Hospital & Leiden University.
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Journal ArticleDOI
PPIB mutations cause severe osteogenesis imperfecta.
Fleur S van Dijk,Isabel M. Nesbitt,Eline H. Zwikstra,Peter G.J. Nikkels,Sander R. Piersma,Silvina A. Fratantoni,Connie R. Jimenez,Margriet Huizer,Alice C. Morsman,Jan Maarten Cobben,Mirjam H.H. van Roij,Mariet W. Elting,Jonathan I.M.L. Verbeke,Liliane C. D. Wijnaendts,Nick Shaw,Wolfgang Högler,Carole McKeown,Erik A. Sistermans,Ann Dalton,Hanne Meijers-Heijboer,Gerard Pals +20 more
TL;DR: It is suggested that recessive OI is caused by a dysfunctional P3H1/CRTAP/CyPB complex rather than by the lack of 3-prolyl hydroxylation of a single proline residue in the alpha1 chains of collagen type I.
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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
Alexander Hoischen,Bregje W.M. van Bon,Benjamín Rodríguez-Santiago,Benjamín Rodríguez-Santiago,Christian Gilissen,Lisenka E.L.M. Vissers,Petra de Vries,Irene M. Janssen,Bart van Lier,Rob Hastings,Sarah F. Smithson,Ruth Newbury-Ecob,Susanne Kjaergaard,Judith A. Goodship,Ruth McGowan,Deborah Bartholdi,Anita Rauch,Maarit Peippo,Jan Maarten Cobben,Dagmar Wieczorek,Gabriele Gillessen-Kaesbach,Joris A. Veltman,Han G. Brunner,Bert B.A. de Vries +23 more
TL;DR: In this paper, the exomes of three individuals with Bohring-Opitz syndrome were sequenced and each identified heterozygous de novo nonsense mutations in ASXL1, which is required for maintenance of both activation and silencing of Hox genes.
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Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome
Ingrid M.B.H. van de Laar,Denise van der Linde,Edwin H.G. Oei,Pieter K. Bos,Johannes H.J.M. Bessems,Sita M A Bierma-Zeinstra,Belle L. van Meer,Gerard Pals,Rogier A. Oldenburg,Jos A. Bekkers,Adriaan Moelker,Bianca M. de Graaf,Gabor Matyas,Ingrid M.E. Frohn-Mulder,Janneke Timmermans,Yvonne Hilhorst-Hofstee,Jan Maarten Cobben,Hennie T. Brüggenwirth,Lut Van Laer,Bart Loeys,Julie De Backer,Paul Coucke,Harry C. Dietz,Patrick Willems,Ben A. Oostra,Anne De Paepe,Jolien W. Roos-Hesselink,Aida M. Bertoli-Avella,Marja W. Wessels +28 more
TL;DR: In the majority of patients, early-onset joint abnormalities, including osteoarthritis and osteochondritis dissecans, were the initial symptom for which medical advice was sought, and involved mainly aortic aneurysms and dissections.
Journal ArticleDOI
Characterization of the Split Hand/Split Foot Malformation Locus SHFM1 at 7Q21.3–Q22.1 and Analysis of a Candidate Gene for Its Expression during Limb Development
Michael A. Crackower,Stephen W. Scherer,Johanna M. Rommens,Chi-chung Hui,Parvoneh Poorkaj,Sylvia Soder,Jan Maarten Cobben,Louanne Hudgins,James P. Evans,Lap-Chee Tsui +9 more
TL;DR: Using RNA in situ hybridization analysis, a tissue-specific expression profile for Dss1 was detected in limb bud, craniofacial primordia and skin and a deficiency in expression of DSS1, DLX5 and/or DLX6 during development may explain the SHFM phenotypes.
Journal ArticleDOI
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature
Marije E.C. Meuwissen,Dicky J. Halley,Liesbeth S. Smit,Maarten H. Lequin,Jan Maarten Cobben,René de Coo,Jeske J.T. van Harssel,Suzanne C E H Sallevelt,G.H. Woldringh,Marjo S. van der Knaap,Linda S. de Vries,Grazia M.S. Mancini +11 more
TL;DR: The data underscore the importance of COL4A1 andCOL4A2 mutations in cerebrovascular disease, also in sporadic patients and propose a screening protocol at diagnosis.