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Ron Hochstenbach

Researcher at Utrecht University

Publications -  64
Citations -  4269

Ron Hochstenbach is an academic researcher from Utrecht University. The author has contributed to research in topics: Trisomy & Copy-number variation. The author has an hindex of 28, co-authored 63 publications receiving 3936 citations. Previous affiliations of Ron Hochstenbach include University Medical Center Utrecht.

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Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Heather C Mefford, +85 more
TL;DR: Recurrent molecular lesions that elude syndromic classification and whose disease manifestations must be considered in a broader context of development as opposed to being assigned to a specific disease are identified.
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Recombinant Vitronectin Is a Functionally Defined Substrate That Supports Human Embryonic Stem Cell Self‐Renewal via αVβ5 Integrin

TL;DR: Recombinant vitronectin was the only defined functional alternative to Matrigel, supporting sustained self‐renewal and pluripotency in three independent hESC lines and eliminating the need for defined medium supplements and ECM proteins.
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Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline

TL;DR: The pattern of random joining of chromosomal fragments that is observed here strongly resembles the somatic rearrangement patterns--termed chromothripsis--that have recently been described in deranged cancer cells and it is concluded that a similar mechanism may also drive the formation of de novo structural variation in the germline.
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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, +179 more
- 01 Jan 2017 - 
TL;DR: It is proposed that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements and provides insight into new pathogenic mechanisms, such as altered regulation due to changes in chromosome topology.