PubMed=3803387; DOI=10.1111/j.1432-1033.1987.tb10598.x
Poot M., Verkerk A., Koster J.F., Esterbauer H., Jongkind J.F.
Influence of cumene hydroperoxide and 4-hydroxynonenal on the glutathione metabolism during in vitro ageing of human skin fibroblasts.
Eur. J. Biochem. 162:287-291(1987)

PubMed=3337113; PMCID=PMC1715319
Jaspers N.G.J., Taalman R.D.F.M., Baan C.C.
Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia.
Am. J. Hum. Genet. 42:66-73(1988)

DOI=10.1007/978-1-4757-5016-4_9
Jaspers N.G.J., Roza L., Vermeulen W., Eker A.P.M., Taalman R.D.F.M., Hoeijmakers J.H.J., Bootsma D.
In vitro correction of cells from patients with mutagen hypersensitivity.
(In book chapter) DNA damage and repair; Castellani A. (eds.); pp.73-82; Springer; Boston; USA (1989)

PubMed=8317483; PMCID=PMC1682247
Vermeulen W., Jaeken J., Jaspers N.G.J., Bootsma D., Hoeijmakers J.H.J.
Xeroderma pigmentosum complementation group G associated with Cockayne syndrome.
Am. J. Hum. Genet. 53:185-192(1993)

PubMed=7671243
Eveno E., Bourre F., Quilliet X., Chevallier-Lagente O., Roza L., Eker A.P.M., Kleijer W.J., Nikaido O., Stefanini M., Hoeijmakers J.H.J., Bootsma D., Cleaver J.E., Sarasin A., Mezzina M.
Different removal of ultraviolet photoproducts in genetically related xeroderma pigmentosum and trichothiodystrophy diseases.
Cancer Res. 55:4325-4332(1995)

PubMed=8823375; DOI=10.1111/1523-1747.ep12584287
Moriwaki S.-i., Stefanini M., Lehmann A.R., Hoeijmakers J.H.J., Robbins J.H., Rapin I., Botta E., Tanganelli B., Vermeulen W., Broughton B.C., Kraemer K.H.
DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and Cockayne syndrome resemble xeroderma pigmentosum cells.
J. Invest. Dermatol. 107:647-653(1996)

PubMed=9012405; PMCID=PMC1712398
Weeda G., Eveno E., Donker I., Vermeulen W., Chevallier-Lagente O., Taieb A., Stary A., Hoeijmakers J.H.J., Mezzina M., Sarasin A.
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
Am. J. Hum. Genet. 60:320-329(1997)

PubMed=9579555; DOI=10.1046/j.1523-1747.1998.00171.x
Sijbers A.M., van Voorst Vader P.C., Snoek J.W., Raams A., Jaspers N.G.J., Kleijer W.J.
Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease.
J. Invest. Dermatol. 110:832-836(1998)

PubMed=12060391; DOI=10.1046/j.1523-1747.2002.01782.x
Emmert S., Slor H., Busch D.B., Batko S., Albert R.B., Coleman D.M., Khan S.G., Abu-Libdeh B., DiGiovanna J.J., Cunningham B.B., Lee M.-M., Crollick J., Inui H., Ueda T., Hedayati M., Grossman L., Shahlavi T., Cleaver J.E., Kraemer K.H.
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.
J. Invest. Dermatol. 118:972-982(2002)

PubMed=14688028; DOI=10.1093/carcin/bgh046
Arbault S., Sojic N., Bruce D., Amatore C., Sarasin A., Vuillaume M.
Oxidative stress in cancer prone xeroderma pigmentosum fibroblasts Real-time and single cell monitoring of superoxide and nitric oxide production with microelectrodes.
Carcinogenesis 25:509-515(2004)

PubMed=15220921; DOI=10.1038/ng1387
Giglia-Mari G., Coin F., Ranish J.A., Hoogstraten D., Theil A.F., Wijgers N., Jaspers N.G.J., Raams A., Argentini M., van der Spek P.J., Botta E., Stefanini M., Egly J.-M., Aebersold R., Hoeijmakers J.H.J., Vermeulen W.
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.
Nat. Genet. 36:714-719(2004)

PubMed=17273966; DOI=10.1086/512486; PMCID=PMC1821117
Jaspers N.G.J., Raams A., Silengo M.C., Wijgers N., Niedernhofer L.J., Robinson A.R., Giglia-Mari G., Hoogstraten D., Kleijer W.J., Hoeijmakers J.H.J., Vermeulen W.
First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.
Am. J. Hum. Genet. 80:457-466(2007)

PubMed=20221251; DOI=10.1371/journal.pgen.1000871; PMCID=PMC2832669
Ahmad A., Enzlin J.H., Bhagwat N.R., Wijgers N., Raams A., Appledoorn E., Theil A.F., Hoeijmakers J.H.J., Vermeulen W., Jaspers N.G.J., Scharer O.D., Niedernhofer L.J.
Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients.
PLoS Genet. 6:E1000871-E1000871(2010)

PubMed=31374204; DOI=10.1016/j.ajhg.2019.06.017; PMCID=PMC6698936
Theil A.F., Botta E., Raams A., Smith D.E.C., Mendes M.I., Caligiuri G., Giachetti S., Bione S., Carriero R., Liberi G., Zardoni L., Swagemakers S.M.A., Salomons G.S., Sarasin A., Lehmann A.R., van der Spek P.J., Ogi T., Hoeijmakers J.H.J., Vermeulen W., Orioli D.
Bi-allelic TARS mutations are associated with brittle hair phenotype.
Am. J. Hum. Genet. 105:434-440(2019)