Frederique S. Bena

Geneve, GE, Switzerland

Last Updated: 09/26/2026

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Found 19 publications

Hyaline Cartilage Microtissues Engineered from Adult Dedifferentiated Chondrocytes: Safety and Role of WNT Signaling.

Hyaline Cartilage Microtissues Engineered from Adult Dedifferentiated Chondrocytes: Safety and Role of WNT Signaling.

Journal: Stem cells translational medicine

Published: March 23, 2022

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

Journal: American journal of human genetics

Published: October 19, 2020

Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.

Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.

Journal: Human mutation

Published: September 16, 2020

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.

Journal: Molecular psychiatry

Published: June 05, 2019

Multi-omic measurements of heterogeneity in HeLa cells across laboratories.

Multi-omic measurements of heterogeneity in HeLa cells across laboratories.

Journal: Nature biotechnology

Published: April 29, 2018

Heterozygous Deletion of Chorein Exons 70-73 and GNA14 Exons 3-7 in a Brazilian Patient Presenting With Probable Tau-Negative Early-Onset Alzheimer Disease.

Heterozygous Deletion of Chorein Exons 70-73 and GNA14 Exons 3-7 in a Brazilian Patient Presenting With Probable Tau-Negative Early-Onset Alzheimer Disease.

Journal: Alzheimer disease and associated disorders

Published: January 13, 2017

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans.

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans.

Journal: Journal of medical genetics

Published: November 07, 2016

Heterozygous Chorein Deficiency in Probable Tau-negative Early-onset Alzheimer Disease.

Heterozygous Chorein Deficiency in Probable Tau-negative Early-onset Alzheimer Disease.

Journal: Alzheimer disease and associated disorders

Published: January 31, 2016

A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis.

A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: September 24, 2015

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 13, 2014

Extrachromosomal driver mutations in glioblastoma and low-grade glioma.

Extrachromosomal driver mutations in glioblastoma and low-grade glioma.

Journal: Nature communications

Published: April 02, 2014

Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.

Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.

Journal: Human mutation

Published: January 30, 2014

Showing 1-12 of 19

Last Updated: 09/26/2026