T. Coste

Lysyl hydroxylase 3–mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV)

K. Mizuno, D. Keene, E. Tournier-Lasserve, 2022, The Journal of biological chemistry.

Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication

D. Campion, D. Wallon, B. Croisile, 2021, Neurology: Genetics.

COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage

C. Aloui, A. Leutenegger, A. Gelot, 2022, Prenatal diagnosis.

End‐Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy

G. Marenne, C. Aloui, H. Chabriat, 2021, Annals of neurology.

Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic.

M. Didic, E. Jouvent, D. Hervé, 2021, Brain : a journal of neurology.

Further refinement of COL4A1 and COL4A2 related cortical malformations.

N. Boddaert, L. Pasquier, J. Chelly, 2018, European journal of medical genetics.

Prenatal Diagnosis of COL4A1 Mutations in Eight Cases: Further Delineation of the Neurohistopathological Phenotype

C. Fallet-Bianco, A. Benachi, F. Encha-Razavi, 2022, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Prevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesions

C. Garel, E. Tournier-Lasserve, D. Heron, 2021 .

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.

J. Lupski, A. Balduini, H. Lochmüller, 2023, American journal of human genetics.

Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype

M. Yvert, F. Rivier, N. Leboucq, 2022, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.