Jacqueline Chrast

Publications | Mémoires et thèses

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22 publications

2024 | 2023 | 2021 | 2019 | 2017 | 2014 | 2012 | 2011 | 2010 | 2008 | 2007 | 2006 |
2024
 
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Bassani S., Chrast J., Ambrosini G., Voisin N., Schütz F., Brusco A., Sirchia F., Turban L., Schubert S., Abou Jamra R. et al., 2024/05/30. Genome medicine, 16 (1) p. 72. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_2A129453D91A]
2023
Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.
Giannuzzi G., Chatron N., Mannik K., Auwerx C., Pradervand S., Willemin G., Hoekzema K., Nuttle X., Chrast J., Sadler M.C. et al., 2023/05/24. NPJ genomic medicine, 8 (1) p. 9. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_BB9CACD534D5]
2021
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.
De Nittis P., Efthymiou S., Sarre A., Guex N., Chrast J., Putoux A., Sultan T., Raza Alvi J., Ur Rahman Z., Zafar F. et al., 2021/12. Journal of medical genetics, 58 (12) pp. 815-831. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_D9A4B043FC02]
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.
Bassani S., van Beelen E., Rossel M., Voisin N., Morgan A., Arribat Y., Chatron N., Chrast J., Cocca M., Delprat B. et al., 2021/09/15. Human molecular genetics, 30 (19) pp. 1785-1796. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_1B6DF3F33981]
 
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
den Hoed J., de Boer E., Voisin N., Dingemans AJM, Guex N., Wiel L., Nellaker C., Amudhavalli S.M., Banka S., Bena F.S. et al., 2021/02/04. American journal of human genetics, 108 (2) pp. 346-356. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0EBEF17D8EA2]
2019
 
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals.
Giannuzzi G., Schmidt P.J., Porcu E., Willemin G., Munson K.M., Nuttle X., Earl R., Chrast J., Hoekzema K., Risso D. et al., 2019/11/07. American journal of human genetics, 105 (5) pp. 947-958. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0CA1D54A2E09]
 
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals
Giannuzzi Giuliana, Schmidt Paul J., Porcu Eleonora, Willemin Gilles, Munson Katherine M., Nuttle Xander, Earl Rachel, Chrast Jacqueline, Hoekzema Kendra, Risso Davide et al., 2019/11. The American Journal of Human Genetics, 105 (5) pp. 947-958.
[DOI][WoS][Pmid][serval:BIB_4E12AE891247]
GENCODE reference annotation for the human and mouse genomes.
Frankish A., Diekhans M., Ferreira A.M., Johnson R., Jungreis I., Loveland J., Mudge J.M., Sisu C., Wright J., Armstrong J. et al., 2019/01/08. Nucleic acids research, 47 (D1) pp. D766-D773. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_FACD746C7F1B]
2017
 
Low number of fixed somatic mutations in a long-lived oak tree.
Schmid-Siegert E., Sarkar N., Iseli C., Calderon S., Gouhier-Darimont C., Chrast J., Cattaneo P., Schütz F., Farinelli L., Pagni M. et al., 2017/12. Nature plants, 3 (12) pp. 926-929. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_66296D0251EE]
2014
 
TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease.
Alfaiz A.A., Micale L., Mandriani B., Augello B., Pellico M.T., Chrast J., Xenarios I., Zelante L., Merla G., Reymond A., 2014. Human Mutation, 35 (4) pp. 447-451.
[DOI][WoS][Pmid][serval:BIB_4A2DD35BA4D5]
2012
 
An integrated encyclopedia of DNA elements in the human genome.
ENCODE Project Consortium, Dunham I., Dunham I., Kundaje A., Aldred S.F., Collins P.J., Davis C.A., Doyle F., Epstein C.B., Frietze S. et al., 2012. Nature, 489 (7414) pp. 57-74.
[DOI][WoS][Pmid][serval:BIB_BDE6E4FA454B]
Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome.
Howald C., Tanzer A., Chrast J., Kokocinski F., Derrien T., Walters N., Gonzalez J.M., Frankish A., Aken B.L., Hourlier T. et al., 2012. Genome Research, 22 (9) pp. 1698-1710.
[URN][DOI][WoS][Pmid][serval:BIB_E1581D2AC4AD]
Evidence for transcript networks composed of chimeric RNAs in human cells.
Djebali S., Lagarde J., Kapranov P., Lacroix V., Borel C., Mudge J.M., Howald C., Foissac S., Ucla C., Chrast J. et al., 2012. PLoS One, 7 (1) pp. e28213.
[URN][DOI][WoS][Pmid][serval:BIB_09687AEE4DF5]
GENCODE: the reference human genome annotation for The ENCODE Project.
Harrow J., Frankish A., Gonzalez J.M., Tapanari E., Diekhans M., Kokocinski F., Aken B.L., Barrell D., Zadissa A., Searle S. et al., 2012. Genome Research, 22 (9) pp. 1760-1774.
[URN][DOI][WoS][Pmid][serval:BIB_60ACD7FC0F0C]
Landscape of transcription in human cells.
Djebali S., Davis C.A., Merkel A., Dobin A., Lassmann T., Mortazavi A., Tanzer A., Lagarde J., Lin W., Schlesinger F. et al., 2012. Nature, 489 (7414) pp. 101-108.
[URN][DOI][WoS][Pmid][serval:BIB_7207A3318E3D]
2011
 
Copy number variation modifies expression time courses.
Chaignat E., Yahya-Graison E.A., Henrichsen C.N., Chrast J., Schütz F., Pradervand S., Reymond A., 2011. Genome Research, 21 (1) pp. 106-113.
[DOI][WoS][Pmid][serval:BIB_F86987ABB7C7]
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Jacquemont S., Reymond A., Zufferey F., Harewood L., Walters R.G., Kutalik Z., Martinet D., Shen Y., Valsesia A., Beckmann N.D. et al., 2011. Nature, 478 (7367) pp. 97-102.
[URN][DOI][WoS][Pmid][serval:BIB_9700E363D9A2]
2010
 
A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes.
Gimelli S., Chrast J., Baban A., Henrichsen C.N., Lerone M., Zuffardi O., Gimelli G., Reymond A., 2010. American Journal of Medical Genetics. Part A, 152A (5) pp. 1285-1294. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_078F653B401C]
Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models.
Ricard G., Molina J., Chrast J., Gu W., Gheldof N., Pradervand S., Schütz F., Young J.I., Lupski J.R., Reymond A. et al., 2010. PLoS Biology, 8 (11) pp. e1000543. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_034A965C3133]
2008
Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome.
Molina J., Carmona-Mora P., Chrast J., Krall P.M., Canales C.P., Lupski J.R., Reymond A., Walz K., 2008. Human Molecular Genetics, 17 (16) pp. 2486-2495. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_FA3FDDAE1B36]
2007
 
Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions.
Denoeud F., Kapranov P., Ucla C., Frankish A., Castelo R., Drenkow J., Lagarde J., Alioto T., Manzano C., Chrast J. et al., 2007. Genome Research, 17 (6) pp. 746-759. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_9E222586D534]
2006
GENCODE: producing a reference annotation for ENCODE.
Harrow J., Denoeud F., Frankish A., Reymond A., Chen C.K., Chrast J., Lagarde J., Gilbert J.G., Storey R., Swarbreck D. et al., 2006. Genome Biology, 7 Suppl 1 pp. S4.1-S4.9. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_F594806247A7]
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