Author details

Full Name

Jacqueline Chrast

Affiliation

ORCID

Career Start Year

1996

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37225732	Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.	NPJ Genom Med	2023
35715439	Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.	NPJ Genom Med	2022
33172956	Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.	J Med Genet	2021
34059922	Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.	Human Molecular Genetics	2021
33513338	Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.	Am J Hum Genet	2021
30357393	GENCODE reference annotation for the human and mouse genomes.	Nucleic Acids Res	2019
31668704	The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals.	Am J Hum Genet	2019
29209081	Low number of fixed somatic mutations in a long-lived oak tree.	Nat Plants	2017
27531712	Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq).	Nat Commun	2016
24515783	TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease.	Hum Mutat	2014
22238572	Evidence for transcript networks composed of chimeric RNAs in human cells.	PLoS One	2012
22955987	GENCODE: the reference human genome annotation for The ENCODE Project.	Genome Res	2012
22955982	Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome.	Genome Res	2012
22955620	Landscape of transcription in human cells.	Nature	2012
21881559	Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.	Nature	2011
21084671	Copy number variation modifies expression time courses.	Genome Research	2011
20425838	A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes.	American Journal of Medical Genetics, Part A	2010
21124890	Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models.	PLoS Biol	2010
19390049	The genome sequence of taurine cattle: a window to ruminant biology and evolution.	Science	2009
18469339	Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome.	Hum Mol Genet	2008
17289005	Spatial distributions of Kv4 channels and KChip2 isoforms in the murine heart based on laser capture microdissection.	Cardiovascular Research	2007
17567994	Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions.	Genome Res	2007
17571346	Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.	Nature	2007
16925838	GENCODE: producing a reference annotation for ENCODE.	Genome Biol	2006
16357014	Comparison of contraction and calcium handling between right and left ventricular myocytes from adult mouse heart: a role for repolarization waveform.	Journal of Physiology	2006
14991071	Chronic phospholamban inhibition prevents progressive cardiac dysfunction and pathological remodeling after infarction in rats.	Journal of Clinical Investigation	2004
11250929	Angiotensin II induces skeletal muscle wasting through enhanced protein degradation and down-regulates autocrine insulin-like growth factor I.	Endocrinology	2001
10198292	Direct demonstration of the endocytic function of caveolae by a cell-free assay.	Journal of Cell Science	1999
10567181	Angiotensin II stimulates gene expression of cardiac insulin-like growth factor I and its receptor through effects on blood pressure and food intake.	Hypertension	1999
8760871	Bi-directional gene switching with the tetracycline repressor and a novel tetracycline antagonist.	Nucleic Acids Res	1996