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J. Chrast · SciRah

Researcher profile · Semantic Scholar

J. Chrast

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J. Chrast — researcher profile on SciRah

h-index: 23
Works: 44
Citations: 16K

Most-cited papers

Landscape of transcription in human cells
S. Djebali, Carrie A. Davis, A. Merkel, A. Dobin +81 more
2012Nature4,999 citations Open access
Semantic Scholar
GENCODE: The reference human genome annotation for The ENCODE Project
J. Harrow, A. Frankish, J. Gonzalez, Electra Tapanari +37 more
2012Genome Research4,522 citations Open access
Semantic Scholar
GENCODE reference annotation for the human and mouse genomes
A. Frankish, M. Diekhans, Anne-Maud Ferreira, Rory Johnson +51 more
2018Nucleic Acids Res.2,830 citations Open access
Semantic Scholar
The Genome Sequence of Taurine Cattle: A window to ruminant biology and evolution
C. Elsik, R. Tellam, K. Worley, Richard A. Gibbs +303 more
2009Science1,219 citations Open access
Semantic Scholar
GENCODE: producing a reference annotation for ENCODE
J. Harrow, F. Denoeud, A. Frankish, A. Reymond +11 more
2006Genome Biology702 citations Open access
Semantic Scholar
Evidence for Transcript Networks Composed of Chimeric RNAs in Human Cells
S. Djebali, J. Lagarde, P. Kapranov, V. Lacroix +34 more
2012PLoS ONE234 citations Open access
Semantic Scholar
Angiotensin II induces skeletal muscle wasting through enhanced protein degradation and down-regulates autocrine insulin-like growth factor I.
M. Brink, S. Price, J. Chrast, James L. Bailey +3 more
2001Endocrinology213 citations Open access
Semantic Scholar
Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions.
F. Denoeud, P. Kapranov, C. Ucla, A. Frankish +22 more
2007Genome Research211 citations Open access
Semantic Scholar
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
S. Jacquemont, A. Reymond, Flore Zufferey, Louise Harewood +177 more
2011Nature180 citations Open access
Semantic Scholar
Chronic phospholamban inhibition prevents progressive cardiac dysfunction and pathological remodeling after infarction in rats.
Y. Iwanaga, M. Hoshijima, Yu-Su Gu, Mitsuo Iwatate +8 more
2004Journal of Clinical Investigation180 citations Open access
Semantic Scholar
MIT Open Access Articles GENCODE: The reference human genome annotation for The ENCODE Project
Genome Research, J. Harrow, A. Frankish, J. M. González +38 more
144 citations
Semantic Scholar
Low number of fixed somatic mutations in a long-lived oak tree
Emanuel Schmid-Siegert, Namrata Sarkar, C. Iseli, Sandra Calderon +17 more
2017Nature Plants135 citations Open access
Semantic Scholar
Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models
G. Ricard, J. Molina, J. Chrast, W. Gu +7 more
2010PLoS Biology135 citations Open access
Semantic Scholar
Comparison of contraction and calcium handling between right and left ventricular myocytes from adult mouse heart: a role for repolarization waveform
R. Kondo, Dorothy A. Dederko, C. Teutsch, J. Chrast +3 more
2006Journal of Physiology106 citations Open access
Semantic Scholar
Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome.
J. Molina, P. Carmona-Mora, J. Chrast, P. Krall +4 more
2008Human Molecular Genetics89 citations Open access
Semantic Scholar
Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq)
J. Lagarde, Barbara Uszczynska-Ratajczak, Javier Santoyo-Lopez, J. Gonzalez +14 more
2016Nature Communications79 citations Open access
Semantic Scholar
Copy number variation modifies expression time courses.
E. Chaignat, E. A. Yahya-Graison, Charlotte N. Henrichsen, J. Chrast +3 more
2011Genome Research72 citations Open access
Semantic Scholar
Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome
C. Howald, A. Tanzer, J. Chrast, F. Kokocinski +13 more
2012Genome Research68 citations Open access
Semantic Scholar
TBC1D7 Mutations are Associated with Intellectual Disability, Macrocrania, Patellar Dislocation, and Celiac Disease
A. Alfaiz, L. Micale, B. Mandriani, B. Augello +6 more
2014Human Mutation63 citations
Semantic Scholar
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
J. den Hoed, Elke de Boer, N. Voisin, A. Dingemans +93 more
2020bioRxiv51 citations Open access
Semantic Scholar
Angiotensin II stimulates gene expression of cardiac insulin-like growth factor I and its receptor through effects on blood pressure and food intake.
M. Brink, J. Chrast, S. R. Price, W. E. Mitch +1 more
1999HYPERTENSION51 citations Open access
Semantic Scholar
Spatial distributions of Kv4 channels and KChip2 isoforms in the murine heart based on laser capture microdissection.
C. Teutsch, R. Kondo, Dorothy A. Dederko, J. Chrast +2 more
2007Cardiovascular Research42 citations
Semantic Scholar
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals.
G. Giannuzzi, P. Schmidt, E. Porcu, Gilles Willemin +17 more
2019American Journal of Human Genetics36 citations Open access
Semantic Scholar
Resource GENCODE : The reference human genome annotation for The ENCODE Project
J. Harrow, A. Frankish, J. Gonzalez, Electra Tapanari +37 more
201223 citations
Semantic Scholar
Low rate of somatic mutations in a long-lived oak tree
Namrata Sarkar, Emanuel Schmid-Siegert, C. Iseli, Sandra Calderon +17 more
2017bioRxiv13 citations Open access
Semantic Scholar
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.
S. Bassani, E. Beelen, M. Rossel, N. Voisin +22 more
2021Human Molecular Genetics10 citations Open access
Semantic Scholar
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome
P. De Nittis, S. Efthymiou, A. Sarre, N. Guex +26 more
2020Journal of Medical Genetics10 citations Open access
Semantic Scholar
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts
G. Giannuzzi, N. Chatron, Katrin Mannik, C. Auwerx +14 more
2022npj Genomic Medicine7 citations Open access
Semantic Scholar
Leveraging biobank-scale rare and common variant analyses to identify ASPHD1 as the main driver of reproductive traits in the 16p11.2 locus
K. Männik, T. Arbogast, M. Lepamets, Kaido Lepik +26 more
2019bioRxiv7 citations Open access
Semantic Scholar
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
S. Bassani, J. Chrast, Giovanna Ambrosini, N. Voisin +50 more
2024Genome Medicine4 citations Open access
Semantic Scholar
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies
Francesca Mattioli, Rún Friðriksdóttir, Anne Hébert, S. Bassani +19 more
2025Genome Medicine3 citations Open access
Semantic Scholar
A t(7;12) balanced translocation with breakpoints overlapping those of the Williams–Beuren and 12q14 microdeletion syndromes
S. Gimelli, J. Chrast, A. Baban, Charlotte N. Henrichsen +4 more
2010American Journal of Medical Genetics. Part A2 citations
Semantic Scholar
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
S. Bassani, J. Chrast, Giovanna Ambrosini, N. Voisin +48 more
2024medRxiv1 citations Open access
Semantic Scholar
The human-specific BOLA2 duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11.2 autism patients
G. Giannuzzi, P. Schmidt, E. Porcu, Gilles Willemin +17 more
2019bioRxiv1 citations Open access
Semantic Scholar
Evidence for transcript networks composed of chimeric RNAs in human cells
S. Djebali, J. Lagarde, P. Kapranov, V. Lacroix +38 more
20171 citations
Semantic Scholar
Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders
C. Pailler-Pradeau, M. Lemée, Caterina Cevallos, Francesca Mattioli +50 more
2026medRxiv0 citations Open access
Semantic Scholar
Lipid transport is necessary for neocortical lamination
J. Chrast, Stephan C. Collins, Catherine Roger, Siwar Ben-Ayache +10 more
2026Genes & Diseases0 citations Open access
Semantic Scholar
Lipid transport is necessary for neocortical lamination
J. Chrast, Stephan C. Collins, Catherine Roger, Siwar Ben-Ayache +38 more
2025bioRxiv0 citations Open access
Semantic Scholar
Académique Lausannois SERVAL serval.unil.ch
S. Bassani, Edward S. A. van Beelen, M. Rossel, N. Voisin +23 more
20230 citations
Semantic Scholar
Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts
G. Giannuzzi, N. Chatron, Katrin Mannik, C. Auwerx +30 more
2023npj Genomic Medicine0 citations Open access
Semantic Scholar
Author Correction: Perspectives on ENCODE
F. Abascal, Reyes Acosta, Nicholas J. Addleman, Jessika Adrian +496 more
2022Nature0 citations Open access
Semantic Scholar
Peer Review #1 of "Detection and benchmarking of somatic mutations in cancer genomes using RNA-seq data (v0.1)"
Alexandre Coudray, A. Battenhouse, Phillip Bucher, V. Iyer +496 more
20180 citations Open access
Semantic Scholar
Evidence for transcript networks composed of chimeric RNAs in human cells
S. Djebali, J. Lagarde, P. Kapranov, V. Lacroix +38 more
20140 citations
Semantic Scholar
GENCODE: The reference human genome annotation for The ENCODE Project
J. Harrow, A. Frankish, J. Gonzalez, Stephen G. Landt +21 more
20120 citations
Semantic Scholar

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