On the role of FAN1 in Fanconi anemia

How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel

(2011) Philip S. Rosenberg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features

(2011) Jun Liao et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations

(2011) M. Castella et al.   BLOOD

Chromosome fragility in patients with Fanconi anaemia: diagnostic implications and clinical impact

(2011) M. Castella et al.   JOURNAL OF MEDICAL GENETICS

Mutations of the SLX4 gene in Fanconi anemia

(2011) Yonghwan Kim et al.   NATURE GENETICS

A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of theTRPM1,CHRNA7, and other homozygously deleted genes

(2010) Jean-Baptiste LePichon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of KIAA1018/FAN1, a DNA Repair Nuclease Recruited to DNA Damage by Monoubiquitinated FANCD2

(2010) Craig MacKay et al.   CELL

Deficiency of FANCD2-Associated Nuclease KIAA1018/FAN1 Sensitizes Cells to Interstrand Crosslinking Agents

(2010) Katja Kratz et al.   CELL

Delineation of 15q13.3 microdeletions

(2010) A Masurel-Paulet et al.   CLINICAL GENETICS

Spontaneous abrogation of the G2 DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients

(2010) Raphael Ceccaldi et al.   JOURNAL OF CLINICAL INVESTIGATION

A Genetic Screen Identifies FAN1, a Fanconi Anemia-Associated Nuclease Necessary for DNA Interstrand Crosslink Repair

(2010) Agata Smogorzewska et al.   MOLECULAR CELL

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

(2010) Alfons Meindl et al.   NATURE GENETICS

KIAA1018/FAN1 nuclease protects cells against genomic instability induced by interstrand cross-linking agents

(2010) K. Yoshikiyo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

FAN1 Acts with FANCI-FANCD2 to Promote DNA Interstrand Cross-Link Repair

(2010) T. Liu et al.   SCIENCE

Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells

(2009) Ángel Raya et al.   NATURE

The role of the DNA damage response pathways in brain development and microcephaly: Insight from human disorders

(2008) Mark O’Driscoll et al.   DNA REPAIR