M
Marjon van Slegtenhorst
Researcher at Erasmus University Rotterdam
Publications - 115
Citations - 6722
Marjon van Slegtenhorst is an academic researcher from Erasmus University Rotterdam. The author has contributed to research in topics: Exome sequencing & Hypertrophic cardiomyopathy. The author has an hindex of 28, co-authored 97 publications receiving 5531 citations. Previous affiliations of Marjon van Slegtenhorst include Fox Chase Cancer Center & Erasmus University Medical Center.
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Journal ArticleDOI
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
Marjon van Slegtenhorst,Ronald de Hoogt,C Hermans,Mark Nellist,Bart Janssen,Senno Verhoef,Dick Lindhout,Ans M.W. van den Ouweland,Dicky J. J. Halley,Janet M. Young,M. W. Burley,S. Jeremiah,Karen J. Woodward,Joseph Nahmias,Margaret Fox,Rosemary Ekong,John D. Osborne,Jonathan Wolfe,Sue Povey,Russell G. Snell,Jeremy Peter Cheadle,Alistair C. Jones,Maria Tachataki,David Ravine,Julian R. Sampson,Mary Pat Reeve,Paul G. Richardson,Friederike Wilmer,Cheryl Munro,Trevor Hawkins,T. Sepp,Johari Mohd Ali,Susannah Ward,Andrew Green,John R. Yates,J. Kwiatkowska,Elizabeth P. Henske,M. Priscilla Short,J Haines,Sergiusz Jozwiak,David J. Kwiatkowski +40 more
TL;DR: Thirty-two distinct mutations were identified in TSC1, 30 of which were truncating, and a single mutation was seen in six apparently unrelated patients, which suggests that hamartin acts as a tumor suppressor.
Journal ArticleDOI
A subtype of childhood acute lymphoblastic leukaemia with poor treatment outcome: a genome-wide classification study
Monique L. den Boer,Marjon van Slegtenhorst,Renee X. de Menezes,Renee X. de Menezes,Meyling Cheok,Jessica Buijs-Gladdines,Susan T C J M Peters,Laura J. C. M. van Zutven,H. Berna Beverloo,Peter J. van der Spek,Gaby Escherich,Martin A. Horstmann,Gritta Janka-Schaub,Willem A. Kamps,William E. Evans,Rob Pieters +15 more
TL;DR: A genome-wide study to improve prognostic classification of ALL in children revealed a new ALL subtype, the underlying genetic abnormalities of which were characterised by comparative genomic hybridisation-arrays and molecular cytogenetics.
Journal ArticleDOI
Dynamic Molecular Combing: Stretching the Whole Human Genome for High-Resolution Studies
Xavier Michalet,Rosemary Ekong,Françoise Fougerousse,Sophie Rousseaux,Catherine Schurra,Nick Hornigold,Marjon van Slegtenhorst,Jonathan Wolfe,Sue Povey,Jacques S. Beckmann,Aaron Bensimon +10 more
TL;DR: DNA in amounts representative of hundreds of eukaryotic genomes was extended on silanized surfaces by dynamic molecular combing and the precise measurement of hybridized DNA probes was achieved directly without requiring normalization, making it a powerful tool for a variety of genomic studies.
Journal ArticleDOI
Interaction Between Hamartin and Tuberin, the TSC1 and TSC2 Gene Products
Marjon van Slegtenhorst,Mark Nellist,Bas Nagelkerken,Jeremy Peter Cheadle,Russell G. Snell,Ans M.W. van den Ouweland,Arnold J. J. Reuser,Julian R. Sampson,Dicky J. J. Halley,Peter van der Sluijs +9 more
TL;DR: It is shown that hamartin and tuberin associate physically in vivo and that the interaction is mediated by predicted coiled-coil domains, suggesting that hamartsin and tubulin function in the same complex rather than in separate pathways.
Journal ArticleDOI
Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy
Jaap I. van Waning,Kadir Caliskan,Yvonne M. Hoedemaekers,Karin Y. van Spaendonck-Zwarts,Annette F. Baas,S. Matthijs Boekholdt,Joost P. van Melle,Arco J. Teske,Folkert W. Asselbergs,Ad P. C. M. Backx,Gideon J. du Marchie Sarvaas,Michiel Dalinghaus,Johannes M.P.J. Breur,Marijke Linschoten,Laura A. Verlooij,Isabella Kardys,Dennis Dooijes,Ronald H. Lekanne Deprez,Arne S. IJpma,Maarten P. van den Berg,Robert M.W. Hofstra,Marjon van Slegtenhorst,Jan D. H. Jongbloed,Danielle Majoor-Krakauer +23 more
TL;DR: Distinguishing genetic from nongenetic NCCM complements prediction of outcome and may lead to management and follow-up tailored to genetic status.