Emilie Falconnet

Geneve, GE 1211, Switzerland

Last Updated: 09/26/2026

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Found 22 publications

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

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

Journal: American journal of human genetics

Published: July 01, 2019

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

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

Journal: Nature communications

Published: February 28, 2019

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

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

Journal: American journal of human genetics

Published: January 17, 2019

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

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

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: December 05, 2018

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.

Journal: Human molecular genetics

Published: September 18, 2018

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

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

Journal: American journal of human genetics

Published: July 03, 2018

Chromatin three-dimensional interactions mediate genetic effects on gene expression.

Chromatin three-dimensional interactions mediate genetic effects on gene expression.

Journal: Science (New York, N.Y.)

Published: April 09, 2018

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3.

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3.

Journal: Human molecular genetics

Published: March 16, 2018

The genomic landscape of human cellular circadian variation points to a novel role for the signalosome.

The genomic landscape of human cellular circadian variation points to a novel role for the signalosome.

Journal: eLife

Published: February 15, 2017

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

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

Journal: American journal of human genetics

Published: October 05, 2016

Corrigendum: Domains of genome-wide gene expression dysregulation in Down's syndrome.

Corrigendum: Domains of genome-wide gene expression dysregulation in Down's syndrome.

Journal: Nature

Published: December 04, 2015

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

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

Journal: PloS one

Published: December 10, 2014

Showing 1-12 of 22

Last Updated: 09/26/2026