Author
Chantal Kemner
Other affiliations: Maastricht University, University of Michigan, University Medical Center Utrecht ...read more
Bio: Chantal Kemner is an academic researcher from Utrecht University. The author has contributed to research in topics: Autism & Pervasive developmental disorder. The author has an hindex of 50, co-authored 162 publications receiving 9040 citations. Previous affiliations of Chantal Kemner include Maastricht University & University of Michigan.
Papers published on a yearly basis
Papers
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McMaster University1, University of Toronto2, Dalhousie University3, Pennsylvania State University4, Nationwide Children's Hospital5, University of Iowa6, University of Miami7, University of South Carolina8, University of Paris9, Pasteur Institute10, University of Gothenburg11, Icahn School of Medicine at Mount Sinai12, Stanford University13, Vanderbilt University14, Johns Hopkins University15, University of North Carolina at Chapel Hill16, University of California, Los Angeles17, University of Pennsylvania18, Washington University in St. Louis19, University of Chicago20, Harvard University21, Emory University22, George Washington University23, Yale University24, University of Utah25, University of Washington26, University of Pittsburgh27, University of California, Irvine28, Veterans Health Administration29, University of Rochester30, University of Toulouse31, German Cancer Research Center32, Goethe University Frankfurt33, National and Kapodistrian University of Athens34, University of Bologna35, Utrecht University36, Guy's Hospital37, King's College London38, University of Cambridge39, University of Manchester40, Newcastle University41, University of Oxford42, University of Illinois at Chicago43, University of Michigan44, Centre Hospitalier Universitaire de Toulouse45, McGill University46, Autism Speaks47
TL;DR: Linkage and copy number variation analyses implicate chromosome 11p12–p13 and neurexins, respectively, among other candidate loci, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
Abstract: Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
1,338 citations
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TL;DR: A two-stage genome search for susceptibility loci in autism was performed on 87 affected sib pairs plus 12 non-sib affected relative-pairs, from a total of 99 families identified by an international consortium, and a region on chromosome 7q was the most significant.
Abstract: Autism is characterized by impairments in reciprocal social interaction and communication, and restricted and stereotyped patterns of interests and activities. Developmental difficulties are apparent before 3 years of age and there is evidence for strong genetic influences most likely involving more than one susceptibility gene. A two-stage genome search for susceptibility loci in autism was performed on 87 affected sib pairs plus 12 non-sib affected relativepairs, from a total of 99 families identified by an international consortium. Regions on six chromosomes (4, 7, 10, 16, 19 and 22) were identified which generated a multipoint maximum lod score (MLS) > 1. A region on chromosome 7q was the most significant with an MLS of 3.55 near markers D7S530 and D7S684 in the subset of 56 UK affected sib-pair families, and an MLS of 2.53 in all 87 affected sib-pair families. An area on chromosome 16p near the telomere was the next most significant, with an MLS of 1.97 in the UK families, and 1.51 in all families. These results are an important step towards identifying genes predisposing to autism; establishing their general applicability requires further study.
537 citations
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TL;DR: The addition of new families and markers provides further support for previous reports of linkages on chromosomes 7q and 16p and two new regions of linkage have also been identified on chromosomes 2q and 17q.
Abstract: Autism is characterized by impairments in reciprocal communication and social interaction and by repetitive and stereotyped patterns of activities and interests. Evidence for a strong underlying genetic predisposition comes from twin and family studies, although susceptibility genes have not yet been identified. A whole-genome screen for linkage, using 83 sib pairs with autism, has been completed, and 119 markers have been genotyped in 13 candidate regions in a further 69 sib pairs. The addition of new families and markers provides further support for previous reports of linkages on chromosomes 7q and 16p. Two new regions of linkage have also been identified on chromosomes 2q and 17q. The most significant finding was a multipoint maximum LOD score (MLS) of 3.74 at marker D2S2188 on chromosome 2; this MLS increased to 4.80 when only sib pairs fulfilling strict diagnostic criteria were included. The susceptibility region on chromosome 7 was the next most significant, generating a multipoint MLS of 3.20 at marker D7S477. Chromosome 16 generated a multipoint MLS of 2.93 at D16S3102, whereas chromosome 17 generated a multipoint MLS of 2.34 at HTTINT2. With the addition of new families, there was no increased allele sharing at a number of other loci originally showing some evidence of linkage. These results support the continuing collection of multiplex sib-pair families to identify autism-susceptibility genes.
450 citations
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TL;DR: Results plead against the notion that the abnormal gaze behavior in everyday life is due to the presence of facial stimuli per se, and show that autistic children have the same fixation behavior as normal children for upright faces, with or without an emotional expression.
Abstract: Background: The abnormal gaze behavior of autistic children toward human faces, as observed in daily-life situations, are investigated in two fixation time studies. It has been argued that faces are a special kind of stimuli for normal individuals and that this might not be the case for autistic children. Methods: A group of high-functioning autistic children (including a group of sub-threshold PDD-NOS children) was compared with a group of normal children, with respect to their fixation behavior for photographs of human faces. Using an infrared eye-tracking device, fixation times for the whole face and for the facial elements of faces were compared between the two groups. The first study dealt with faces having an emotional expression. The second study dealt with neutral faces presented either upright or upside-down. Results: Results of the two studies showed that autistic children have the same fixation behavior as normal children for upright faces, with or without an emotional expression. Furthermore, results of the second study showed that normal children spent less time looking at upside-down faces, but that the fixation times of autistic children were not influenced by the orientation of the faces. Conclusions: These results plead against the notion that the abnormal gaze behavior in everyday life is due to the presence of facial stimuli per se. Furthermore, the absence of a face orientation effect in autistic children might be a reflection of a lack of holistic processing of human faces in autism.
265 citations
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TL;DR: It is shown that training-induced increased sensitivity to a low-level feature, namely low spatial frequency (LSF), alters neural processing of this feature in high-level visual stimuli and suggests that SF discrimination learning transfers from simple stimuli to complex objects.
Abstract: Perception of visual stimuli improves with training, but improvements are specific for trained stimuli rendering the development of generic training programs challenging. It remains unknown to which extent training of low-level visual features transfers to high-level visual perception, and whether this is accompanied by neuroplastic changes. The current event-related potential (ERP) study showed that training-induced increased sensitivity to a low-level feature, namely low spatial frequency (LSF), alters neural processing of this feature in high-level visual stimuli. Specifically, neural activity related to face processing (N170), was decreased for low (trained) but not high (untrained) SF content in faces following LSF training. These novel results suggest that: (1) SF discrimination learning transfers from simple stimuli to complex objects; and that (2) training the use of specific SF information affects neural processing of facial information. These findings may open up a new avenue to improve face recognition skills in individuals with atypical SF processing, such as in cataract or Autism Spectrum Disorder (ASD).
188 citations
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9,362 citations
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TL;DR: The empirical and theoretical development of the P300 event-related brain potential is reviewed by considering factors that contribute to its amplitude, latency, and general characteristics.
6,283 citations
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TL;DR: Difficulties with EF appear to be one important component of the complex neuropsychology of ADHD, and moderate effect sizes and lack of universality of EF deficits among individuals with ADHD suggest that EF weaknesses are neither necessary nor sufficient to cause all cases of ADHD.
3,155 citations
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TL;DR: Advances in human lesion-mapping support the functional localization of such inhibition to right IFC alone, and future research should investigate the generality of this proposed inhibitory function to other task domains, and its interaction within a wider network.
2,920 citations
01 Jan 2016
TL;DR: This is an introduction to the event related potential technique, which can help people facing with some malicious bugs inside their laptop to read a good book with a cup of tea in the afternoon.
Abstract: Thank you for downloading an introduction to the event related potential technique. Maybe you have knowledge that, people have look hundreds times for their favorite readings like this an introduction to the event related potential technique, but end up in malicious downloads. Rather than reading a good book with a cup of tea in the afternoon, instead they are facing with some malicious bugs inside their laptop.
2,445 citations