Mokrani-Benhelli H, Gaillard L, Biasutto P, Le Guen T, Touzot F, Vasquez N, Komatsu J, Conseiller E, Picard C, Gluckman E, Francannet C, Fischer A, Durandy A, Soulier J, de Villartay JP, Cavazzana-Calvo M, Revy P

Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations.

Hum Mutat 34:374-84 (2013)
DOI:10.1002/humu.22245

Tanaka A, Weinel S, Nagy N, O'Driscoll M, Lai-Cheong JE, Kulp-Shorten CL, Knable A, Carpenter G, Fisher SA, Hiragun M, Yanase Y, Hide M, Callen J, McGrath JA

Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.

Am J Hum Genet 90:511-7 (2012)
DOI:10.1016/j.ajhg.2012.01.007