Solene Conrad
Nantes, 44000, France
Last Updated: 09/26/2026
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Found 24 publications
De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms.
Journal: American journal of human genetics
Published: February 26, 2026
Severe dilated cardiomyopathy in females with dystrophinopathy : a case series of nine patients.
Journal: Neuromuscular disorders : NMD
Published: February 20, 2026
Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss.
Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss.
Journal: American journal of human genetics
Published: September 23, 2025
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: medRxiv : the preprint server for health sciences
Published: September 15, 2025
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: Nature genetics
Published: September 02, 2025
A progeria syndrome links DNA hypermethylation to age-related pathology.
Journal: Nature genetics
Published: April 07, 2025
A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.
Journal: Brain : a journal of neurology
Published: December 31, 2024
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal: Nature genetics
Published: October 02, 2024
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 28, 2024
Multiple congenital anomalies in two fetuses with glutathione-synthetase deficit (GSS).
Journal: Clinical genetics
Published: May 13, 2024
Classification of PTEN germline non-truncating variants: a new approach to interpretation.
Journal: Journal of medical genetics
Published: March 11, 2024
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
Journal: NPJ genomic medicine
Published: December 01, 2023
Last Updated: 09/26/2026