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Lot Snijders Blok
Radboud University Nijmegen
11Publications
4H-index
92Citations
Publications 13
Newest
#1Lot Snijders Blok (Radboud University Nijmegen)H-Index: 4
#2Justine RousseauH-Index: 8
Last.Philippe M. Campeau (UdeM: Université de Montréal)H-Index: 29
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The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has now been corrected in both the PDF and HTML versions of the Article.
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#1Lot Snijders Blok (Radboud University Nijmegen)H-Index: 4
#2Tjitske Kleefstra (Radboud University Nijmegen)H-Index: 47
Last.Simon E. Fisher (MPG: Max Planck Society)H-Index: 65
view all 38 authors...
POU3F3, also referred to as Brain-1, is a well-known transcription factor involved in the development of the central nervous system, but it has not previously been associated with a neurodevelopmental disorder. Here, we report the identification of 19 individuals with heterozygous POU3F3 disruptions, most of which are de novo variants. All individuals had developmental delays and/or intellectual disability and impairments in speech and language skills. Thirteen individuals had characteristic low...
1 CitationsSource
#1Yuri A. Zarate (University of Arkansas for Medical Sciences)H-Index: 13
#2Katherine A. Bosanko (University of Arkansas for Medical Sciences)H-Index: 4
Last.Jennifer L. Fish (University of Massachusetts Lowell)H-Index: 17
view all 48 authors...
SATB2‐associated syndrome (SAS) is an autosomal dominant neurodevelopmental disorder caused by alterations in the SATB2 gene. Here we present a review of published pathogenic variants in the SATB2 gene to date and report 38 novel alterations found in 57 additional previously unreported individuals. Overall, we present a compilation of 120 unique variants identified in 155 unrelated families ranging from single nucleotide coding variants to genomic rearrangements distributed throughout the entire...
2 CitationsSource
#1Lot Snijders BlokH-Index: 4
#2Justine RousseauH-Index: 8
Last.Han G. BrunnerH-Index: 30
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#1Lot Snijders Blok (MPG: Max Planck Society)H-Index: 4
#2Tjitske KleefstraH-Index: 47
Last.Simon E. Fisher (MPG: Max Planck Society)H-Index: 65
view all 38 authors...
The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has now been corrected in both the PDF and HTML versions of the Article.
#1Lot Snijders Blok (Radboud University Nijmegen)H-Index: 4
#2Justine Rousseau (UdeM: Université de Montréal)H-Index: 8
Last.Philippe M. Campeau (UdeM: Université de Montréal)H-Index: 29
view all 79 authors...
Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in neurodevelopmental disorders. We describe an index case with a de novo missense mutation in CHD3, identified during whole genome sequencing of a cohort of children with rare speech disorders. To gain a comprehensive view of features associated with disruption of this gene, we use a genotype-driven approach, collecting and characterizing 35...
4 CitationsSource
#1Lot Snijders BlokH-Index: 4
#2Justine RousseauH-Index: 8
Last.Alison RossH-Index: 15
view all 50 authors...
An Author Correction to this article was published on 15 February 2019 An Author Correction to this article was published on 02 May 2019 We thank all individuals and families for their contribution. We thank Amaia Carrion Castillo and Else Eising for assistance with the WGS analysis of the index individual, and Sarah Graham and Elliot Sollis for cloning the wild-type CHD3 construct for immunofluorescence. This work was supported by the Netherlands Organization for Scientific Research (NWO) Gravi...
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#1Maureen S. Mulhern (CUMC: Columbia University Medical Center)H-Index: 2
#2Constance T. R. M. Stumpel (UM: Maastricht University)H-Index: 8
Last.Servi J. C. Stevens (CUMC: Columbia University Medical Center)H-Index: 16
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NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, NBEA has not been rigorously evaluated as a disease gene, and associated phenotypes have not been delineated. We identified 24 de novo NBEA variants in patients with NDD, establishing NBEA as an NDD gene. Most patients had epilepsy with onset in the first few years of life, often characterized by generalized seizure types, including myoclonic and atonic seizures. Our...
2 CitationsSource
#1Ashley L. Lennox (Duke University)H-Index: 8
#2Ruiji Jiang (UCSF: University of California, San Francisco)H-Index: 1
Last.Elliott H. Sherr (UCSF: University of California, San Francisco)H-Index: 40
view all 47 authors...
De novo germline mutations in the RNA helicase DDX3X account for 1-3% of unexplained intellectual disability (ID) cases in females, and are associated with autism, brain malformations, and epilepsy. Yet, the developmental and molecular mechanisms by which DDX3X mutations impair brain function are unknown. Here we use human and mouse genetics, and cell biological and biochemical approaches to elucidate mechanisms by which pathogenic DDX3X variants disrupt brain development. We report the largest ...
5 CitationsSource
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