G. Ryan

Localized autosomal recessive epidermolysis bullosa simplex arising from a novel homozygous frameshift mutation in DST (BPAG1)

J. McGrath, L. Liu, D. Balacco, 2021, Clincal and Experimental Dermatology.

Familial Russell–Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case

T. Cole, N. Kiely, J. Kirk, 2019, Case reports in genetics.

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications

L. Faivre, C. Philippe, C. Thauvin-Robinet, 2020, Clinical genetics.

Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.

S. Banka, J. Mellerio, K. Chandler, 2022, The British journal of dermatology.

Treatment and outcome in 370 cases with spontaneous or post-laser twin anemia polycythemia sequence managed in 17 different fetal therapy centers

Y. Ville, R. Favre, K. Hecher, 2020 .

Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder

C. Rivolta, J. McGrath, M. Folcher, 2022, Human Molecular Genetics.

VAMP2 Gene-Related Neurodevelopmental Disorder: A Differential Diagnosis for Rett/Angelman-Type Spectrum of Disorders

E. Wassmer, S. Naik, G. Ryan, 2023, Molecular Syndromology.