Constance F. Wells

Montpellier, France

Last Updated: 09/26/2026

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Found 26 publications

ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy.

ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy.

Journal: HGG advances

Published: June 02, 2026

Antenatal discovery of mosaic trisomy 14 in an early-onset malformative syndrome.

Antenatal discovery of mosaic trisomy 14 in an early-onset malformative syndrome.

Journal: Molecular cytogenetics

Published: February 26, 2026

Genetic Heterogeneity Underlying Familial Short Stature.

Genetic Heterogeneity Underlying Familial Short Stature.

Journal: Diagnostics (Basel, Switzerland)

Published: October 28, 2025

Hypertrophic Cardiomyopathy as a Key Feature of MRAS-Related Noonan Syndrome: New Case and Comprehensive Literature Review.

Hypertrophic Cardiomyopathy as a Key Feature of MRAS-Related Noonan Syndrome: New Case and Comprehensive Literature Review.

Journal: Prenatal diagnosis

Published: June 18, 2025

A rare placental lesion: Intraparenchymal hepatic heterotopia

A rare placental lesion: Intraparenchymal hepatic heterotopia

Journal: Annales de pathologie

Published: February 25, 2025

ClinFly: an all-in-one method to translate, de-identify, and summarize medical reports in HPO format.

ClinFly: an all-in-one method to translate, de-identify, and summarize medical reports in HPO format.

Journal: NAR genomics and bioinformatics

Published: December 18, 2024

The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome-SHS.

The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome-SHS.

Journal: Prenatal diagnosis

Published: October 10, 2024

Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.

Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.

Journal: European journal of human genetics : EJHG

Published: July 03, 2024

Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.

Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.

Journal: Prenatal diagnosis

Published: October 19, 2023

Postnatal outcome of children with antenatal colonic hyperechogenicity.

Postnatal outcome of children with antenatal colonic hyperechogenicity.

Journal: Prenatal diagnosis

Published: August 30, 2023

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.

Journal: Frontiers in genetics

Published: November 16, 2022

Hypolacrimia and Alacrimia as Diagnostic Features for Genetic or Congenital Conditions.

Hypolacrimia and Alacrimia as Diagnostic Features for Genetic or Congenital Conditions.

Journal: Investigative ophthalmology & visual science

Published: August 04, 2022

Showing 1-12 of 26

Last Updated: 09/26/2026