Camille Kumps

Lausanne, VD 1011, Switzerland

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 14 publications

High-throughput exome sequencing in prenatal diagnosis : indications, benefits, and limitations

High-throughput exome sequencing in prenatal diagnosis : indications, benefits, and limitations

Journal: Revue medicale suisse

Published: July 02, 2026

Access to orphan drugs in adults with inherited metabolic diseases in Switzerland: a single-center retrospective cohort study.

Access to orphan drugs in adults with inherited metabolic diseases in Switzerland: a single-center retrospective cohort study.

Journal: Orphanet journal of rare diseases

Published: October 05, 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

Symmetrical Thalamic Lesions in Preterm Triplets: What Can We Learn From the Different Phenotypes?

Symmetrical Thalamic Lesions in Preterm Triplets: What Can We Learn From the Different Phenotypes?

Journal: Pediatric neurology

Published: January 23, 2025

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

Journal: Clinical genetics

Published: November 18, 2024

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

Prenatal Diagnosis of Okur-Chung Syndrome: Ultrasound Findings and Implications of CSNK2A1 and KCNQ5 Variants.

Prenatal Diagnosis of Okur-Chung Syndrome: Ultrasound Findings and Implications of CSNK2A1 and KCNQ5 Variants.

Journal: Maternal-fetal medicine (Wolters Kluwer Health, Inc.)

Published: July 23, 2024

Constitutional diseases of bone: clinical flags

Constitutional diseases of bone: clinical flags

Journal: Revue medicale suisse

Published: May 03, 2023

Black cartilage: Incidentally discovered articular ochronosis during arthroplasty.

Black cartilage: Incidentally discovered articular ochronosis during arthroplasty.

Journal: Journal of inherited metabolic disease

Published: July 06, 2021

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.

Journal: Molecular autism

Published: June 28, 2021

Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.

Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.

Journal: Clinical genetics

Published: January 20, 2021

O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.

O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.

Journal: Journal of medical genetics

Published: November 20, 2020

Showing 1-12 of 14

Last Updated: 09/26/2026