Nathalie Beillard-Escande
Singapore, Singapore
Last Updated: 09/26/2026
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Found 18 publications
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Journal: Nature communications
Published: April 30, 2023
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.
Journal: EMBO molecular medicine
Published: October 20, 2022
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.
Journal: EMBO molecular medicine
Published: June 21, 2022
Omics profiling identifies the regulatory functions of the MAPK/ERK pathway in nephron progenitor metabolism.
Journal: Development (Cambridge, England)
Published: May 25, 2022
Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features.
Journal: Nature genetics
Published: January 22, 2022
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.
Journal: American journal of medical genetics. Part A
Published: September 19, 2021
Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis.
Journal: Clinical genetics
Published: August 23, 2021
Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.
Journal: Nature communications
Published: October 20, 2020
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.
Journal: Nature communications
Published: July 19, 2020
Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management.
Journal: Archives of disease in childhood
Published: March 19, 2020
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity.
Journal: American journal of medical genetics. Part A
Published: November 25, 2019
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.
Journal: Nature communications
Published: August 23, 2019
Last Updated: 09/26/2026