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

Pathophysiology and management of inherited bone marrow failure syndromes

(2010) Akiko Shimamura et al.   BLOOD REVIEWS

Analysis of 65 Turkish patients with congenital aplastic anemia (Fanconi anemia and non-Fanconi anemia): Hacettepe experience

(2010) Çiǧjdem Altay et al.   CLINICAL GENETICS

Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry

(2010) H. Tamary et al.   HAEMATOLOGICA

Clinical, genetic and cytogenetic study of Fanconi anemia in an Indian population

(2010) Seema Korgaonkar et al.   Hematology

Uncovering the roles of rare variants in common disease through whole-genome sequencing

(2010) Elizabeth T. Cirulli et al.   NATURE REVIEWS GENETICS

Susceptibility Pathways in Fanconi's Anemia and Breast Cancer

(2010) Alan D. D'Andrea   NEW ENGLAND JOURNAL OF MEDICINE

Ashkenazi Jewish Screening in the Twenty-first Century

(2010) Susan Klugman et al.   OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA

Rare Variants Create Synthetic Genome-Wide Associations

(2010) Samuel P. Dickson et al.   PLOS BIOLOGY

Cancer in dyskeratosis congenita

(2009) B. P. Alter et al.   BLOOD

Fanconi anemia and its diagnosis

(2009) Arleen D. Auerbach   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Cancer incidence in relatives of British Fanconi Anaemia patients

(2008) Marc Tischkowitz et al.   BMC CANCER

The genetic and molecular basis of Fanconi anemia

(2008) Johan P. de Winter et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?

(2008) Fuad Fares et al.   PRENATAL DIAGNOSIS