H. Fawcett

发表

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

A. Lehmann, C. Arlett, A. Sarasin, 1997, Proceedings of the National Academy of Sciences of the United States of America.

Genetic analysis of twenty-two patients with Cockayne syndrome

A. Lehmann, M. Stefanini, T. Nardò, 1996, Human Genetics.

XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency.

P. Jeggo, A. Gennery, Q. Pan-Hammarström, 2015, The Journal of allergy and clinical immunology.

Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.

A. Utani, D. Pilz, K. Yoshiura, 2013, American journal of human genetics.

Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy.

A. Lehmann, A. Gratchev, A. Sarasin, 2008, DNA repair.

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

A. Lehmann, P. Giunti, H. Fassihi, 2016, Proceedings of the National Academy of Sciences.

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome

M. Kubota, A. Lehmann, D. Orioli, 2018, Journal of Medical Genetics.

Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical features.

H. Nakagawa, A. Lehmann, M. Momoi, 2005, The Journal of investigative dermatology.

A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan.

P. Norris, I. Frayling, A. Lehmann, 2016, Journal of Investigative Dermatology.

Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.

A. Lehmann, J. Krutmann, S. Queillé, 2001, Human molecular genetics.

Molecular analysis of mutations in DNA polymerase η in xeroderma pigmentosum-variant patients

A. Sarasin, F. Hanaoka, A. Lehmann, 2002, Proceedings of the National Academy of Sciences of the United States of America.

A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU)

Heather Fawcett, Shunichi Yamashita, Siripan Limsirichaikul, 2008, Nucleic acids research.

A rare genetic disorder provides insights into mechanisms of early-onset neurodegeneration

C. Bakal, S. Nik-Zainal, A. Degasperi, 2023, medRxiv.

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome

J. Tolmie, E. Tobias, B. Gener, 2010, Human mutation.