Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

(2012) Sonja A de Munnik et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

ATR signalling: more than meeting at the fork

(2011) Edward A. Nam et al.   BIOCHEMICAL JOURNAL

Mechanisms and pathways of growth failure in primordial dwarfism

(2011) A. Klingseisen et al.   GENES & DEVELOPMENT

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

(2011) Duane L Guernsey et al.   NATURE GENETICS

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

(2011) Louise S Bicknell et al.   NATURE GENETICS

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

(2011) Louise S Bicknell et al.   NATURE GENETICS

A cell-based screen identifies ATR inhibitors with synthetic lethal properties for cancer-associated mutations

(2011) Luis I Toledo et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

CtIP Mutations Cause Seckel and Jawad Syndromes

(2011) Per Qvist et al.   PLoS Genetics

Novel CENPJ mutation causes Seckel syndrome

(2010) M. S. Al-Dosari et al.   JOURNAL OF MEDICAL GENETICS

The DNA Damage Response: Making It Safe to Play with Knives

(2010) Alberto Ciccia et al.   MOLECULAR CELL

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

(2010) Ersan Kalay et al.   NATURE GENETICS

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

(2009) M. Willems et al.   JOURNAL OF MEDICAL GENETICS

A mouse model of ATR-Seckel shows embryonic replicative stress and accelerated aging

(2009) Matilde Murga et al.   NATURE GENETICS

Primary microcephaly: do all roads lead to Rome?

(2009) Gemma K. Thornton et al.   TRENDS IN GENETICS

ATR and H2AX Cooperate in Maintaining Genome Stability under Replication Stress

(2008) Rebecca A. Chanoux et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

(2008) A. Rauch et al.   SCIENCE