Emilie Falconnet

Emilie Falconnet

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Emilie Falconnet

Emilie Falconnet

Publications by authors named "Emilie Falconnet"

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Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance.

Nat Commun 2019 Oct 3;10(1):4495. Epub 2019 Oct 3.

Department of Genetic Medicine and Development, University of Geneva Medical School, 1211 Geneva 4, Geneva, Switzerland.

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http://dx.doi.org/10.1038/s41467-019-12273-8DOI Listing
October 2019

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.

Am J Hum Genet 2019 Sep 27. Epub 2019 Sep 27.

Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, 1211 Geneva, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.013DOI Listing
September 2019

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.

Am J Hum Genet 2019 Jun 9;104(6):1073-1087. Epub 2019 May 9.

Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, 1211 Geneva, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556908PMC
June 2019

Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts.

Proc Natl Acad Sci U S A 2018 12 3;115(51):13015-13020. Epub 2018 Dec 3.

Department of Genetic Medicine and Development, University of Geneva Medical School, 1211 Geneva, CH, Switzerland;

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http://www.pnas.org/lookup/doi/10.1073/pnas.1806811115
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http://dx.doi.org/10.1073/pnas.1806811115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6304968PMC
December 2018

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.

Am J Hum Genet 2018 10;103(4):568-578

Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, Geneva 1205, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, Geneva 1211, Switzerland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174361PMC
October 2018

Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression.

Am J Hum Genet 2017 Mar 9;100(3):444-453. Epub 2017 Feb 9.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva 1211, Switzerland; University Hospitals of Geneva, Geneva 1211, Switzerland; Institute of Genetics and Genomics of Geneva, Geneva 1211, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.01.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5339288PMC
March 2017

HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells.

PLoS One 2015 8;10(5):e0126475. Epub 2015 May 8.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland; University Hospitals of Geneva, Geneva, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, Geneva, Switzerland.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0126475PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4425456PMC
April 2016

Biased allelic expression in human primary fibroblast single cells.

Am J Hum Genet 2015 Jan 31;96(1):70-80. Epub 2014 Dec 31.

Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva, Switzerland; Institute of Genetics and Genomics of Geneva, 1211 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1211 Geneva, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4289680PMC
January 2015

Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing.

PLoS Genet 2015 Jan 29;11(1):e1004958. Epub 2015 Jan 29.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland; Institute of Genetics and Genomics in Geneva (iGE3), Geneva, Switzerland; Swiss Institute of Bioinformatics (SIB), Geneva, Switzerland; Center of Excellence in Genomic Medicine Research, KingAbdulaziz University, Jeddah, Saudi Arabia.

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http://dx.doi.org/10.1371/journal.pgen.1004958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4310612PMC
January 2015

Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations.

Nat Commun 2014 Aug 8;5:4654. Epub 2014 Aug 8.

1] Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel Servet, Geneva 1211, Switzerland [2] IGE3 institute of Genetics and Genomics of Geneva, 1 rue Michel Servet, Geneva 1211, Switzerland [3].

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http://dx.doi.org/10.1038/ncomms5654DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4665216PMC
August 2014

Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications.

Stem Cell Res 2014 Mar 28;12(2):323-37. Epub 2013 Nov 28.

Department of Biophysics, Biochemistry and General Pathology, Seconda Università di Napoli, 80138 Napoli, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2013.11.008DOI Listing
March 2014

Passive and active DNA methylation and the interplay with genetic variation in gene regulation.

Elife 2013 Jun 4;2:e00523. Epub 2013 Jun 4.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland; Institute of Genetics and Genomics in Geneva, Geneva, Switzerland [corrected]; Swiss Institute of Bioinformatics, Geneva, Switzerland.

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http://dx.doi.org/10.7554/eLife.00523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3673336PMC
June 2013

Landscape of transcription in human cells.

Nature 2012 Sep;489(7414):101-8

Centre for Genomic Regulation and UPF, Doctor Aiguader 88, Barcelona 08003, Catalonia, Spain.

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http://dx.doi.org/10.1038/nature11233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3684276PMC
September 2012

Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD.

Hum Mutat 2012 Mar 29;33(3):495-503. Epub 2011 Dec 29.

Primary Ciliary Dyskinesia Group, Clinical and Experimental Sciences, University of Southampton Faculty of Medicine, Southampton NIHR Respiratory Biomedical Research Unit, Southampton General Hospital, Southampton, UK.

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http://dx.doi.org/10.1002/humu.22001DOI Listing
March 2012

DNAI1 mutations explain only 2% of primary ciliary dykinesia.

Respiration 2008 23;76(2):198-204. Epub 2008 Apr 23.

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.

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http://dx.doi.org/10.1159/000128567DOI Listing
November 2008