Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

Clinical Spectrum of LIG4 Deficiency Is Broadened with Severe Dysmaturity, Primordial Dwarfism, and Neurological Abnormalities

(2013) Hanna IJspeert et al.   HUMAN MUTATION

Identification of the DNA Repair Defects in a Case of Dubowitz Syndrome

(2013) Jingyin Yue et al.   PLoS One

Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

(2012) P.V. Asharani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans

(2012) Claire R. Hughes et al.   JOURNAL OF CLINICAL INVESTIGATION

Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency

(2012) Laure Gineau et al.   JOURNAL OF CLINICAL INVESTIGATION

The 1000 Genomes Project: data management and community access

(2012) Laura Clarke et al.   NATURE METHODS

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

(2012) Tomoo Ogi et al.   PLoS Genetics

XRCC4 controls nuclear import and distribution of Ligase IV and exchanges faster at damaged DNA in complex with Ligase IV

(2011) Elke Berg et al.   DNA REPAIR

Mechanisms and pathways of growth failure in primordial dwarfism

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

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

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

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

Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome

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

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

DNA double strand break repair defects, primary immunodeficiency disorders, and ‘radiosensitivity’

(2009) Shareef A Nahas et al.   Current Opinion in Allergy and Clinical Immunology

A novel mutation in a family with DNA ligase IV deficiency syndrome

(2009) Sule Unal et al.   PEDIATRIC BLOOD & CANCER

CsA can induce DNA double-strand breaks: implications for BMT regimens particularly for individuals with defective DNA repair

(2008) M O'Driscoll et al.   BONE MARROW TRANSPLANTATION

Omenn syndrome is associated with mutations in DNA ligase IV

(2008) Eyal Grunebaum et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

(2008) A. Rauch et al.   SCIENCE