Primary Microcephaly, Impaired DNA Replication, and Genomic Instability Caused by Compound HeterozygousATRMutations

Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome

(2012) Akio Tanaka et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis

(2012) Likun Du et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Mechanisms and pathways of growth failure in primordial dwarfism

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

Dynamics of DNA damage response proteins at DNA breaks: a focus on protein modifications

(2011) S. E. Polo et al.   GENES & DEVELOPMENT

Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita

(2011) Fabien Touzot et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Stalled Fork Rescue via Dormant Replication Origins in Unchallenged S Phase Promotes Proper Chromosome Segregation and Tumor Suppression

(2011) Tsuyoshi Kawabata et al.   MOLECULAR CELL

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

CtIP Mutations Cause Seckel and Jawad Syndromes

(2011) Per Qvist et al.   PLoS Genetics

Spi-1/PU.1 Oncogene Accelerates DNA Replication Fork Elongation and Promotes Genetic Instability in the Absence of DNA Breakage

(2010) P. Rimmele et al.   CANCER RESEARCH

The ATR barrier to replication-born DNA damage

(2010) Andrés J. López-Contreras et al.   DNA REPAIR

ATR suppresses telomere fragility and recombination but is dispensable for elongation of short telomeres by telomerase

(2010) Carolyn J. McNees et al.   JOURNAL OF CELL BIOLOGY

Novel CENPJ mutation causes Seckel syndrome

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

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

(2010) Ersan Kalay et al.   NATURE GENETICS

ATR contributes to telomere maintenance in human cells

(2010) Gaëlle Pennarun et al.   NUCLEIC ACIDS RESEARCH

Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome

(2010) F. Touzot et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mammalian Telomeres Resemble Fragile Sites and Require TRF1 for Efficient Replication

(2009) Agnel Sfeir et al.   CELL

Human DNA damage response and repair deficiency syndromes: Linking genomic instability and cell cycle checkpoint proficiency

(2009) Claudia Kerzendorfer et al.   DNA REPAIR

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

Genotype–phenotype correlations in Fanconi anemia

(2009) Kornelia Neveling et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

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

(2009) Matilde Murga et al.   NATURE GENETICS

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

ATR: an essential regulator of genome integrity

(2008) Karlene A. Cimprich et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Splicing regulation: From a parts list of regulatory elements to an integrated splicing code

(2008) Z. Wang et al.   RNA