Sheila Unger

Lausanne, VD, Switzerland

Last Updated: 09/26/2026

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Found 93 publications

Longitudinal Observation of Children with Achondroplasia: Findings from a Global Natural History Study (ACHieve).

Longitudinal Observation of Children with Achondroplasia: Findings from a Global Natural History Study (ACHieve).

Journal: Hormone research in paediatrics
Published: October 14, 2025

Genetic Skeletal Disorders with Defects in Glycosaminoglycan Biosynthesis.

Genetic Skeletal Disorders with Defects in Glycosaminoglycan Biosynthesis.

Journal: Molecular syndromology
Published: August 25, 2025

Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework.

Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: July 21, 2025

3-M syndrome: evolution of the phenotype over time.

3-M syndrome: evolution of the phenotype over time.

Journal: Italian journal of pediatrics
Published: July 18, 2025

De Novo SLC12A2 Variant Presenting as Congenital Hearing Loss With Vestibular Areflexia.

De Novo SLC12A2 Variant Presenting as Congenital Hearing Loss With Vestibular Areflexia.

Journal: American journal of medical genetics. Part A
Published: March 14, 2025

Experience of a support group for women carrying BRCA1/2 mutations

Experience of a support group for women carrying BRCA1/2 mutations

Journal: Revue medicale suisse
Published: February 14, 2025

Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro.

Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro.

Journal: Molecular psychiatry
Published: September 16, 2024

Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis Syndrome MYH3-Related.

Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis Syndrome MYH3-Related.

Journal: Australasian journal of ultrasound in medicine
Published: September 15, 2024

De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder.

De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder.

Journal: The EMBO journal
Published: April 02, 2024

BRCA genetic testing and counseling in breast cancer: how do we meet our patients' needs?

BRCA genetic testing and counseling in breast cancer: how do we meet our patients' needs?

Journal: NPJ breast cancer
Published: February 26, 2024

Preinterventional Third-Molar Assessment Using Robust Machine Learning.

Preinterventional Third-Molar Assessment Using Robust Machine Learning.

Journal: Journal of dental research
Published: November 09, 2023

Recurrent Increased Nuchal Translucency Led to the Identification of Novel NUP107 Variants.

Recurrent Increased Nuchal Translucency Led to the Identification of Novel NUP107 Variants.

Journal: American journal of medical genetics. Part A
Published: March 12, 2023
Showing 1-12 of 93

Last Updated: 09/26/2026