Consanguinity increases the coefficient of inbreeding, which increases the likelihood of
presence of pathogenic mutations in a homoallelic state. Although this is known to have an …

Over the past 2 decades, there have been revolutionary developments in life science
technologies characterized by high throughput, high efficiency, and rapid computation …

Relapse is the most common cause of treatment failure in pediatric acute lymphoblastic
leukemia (ALL) and is often difficult to predict. To explore the prognostic impact of recurrent …

Analysis of chromosomal aberrations is used to determine the prognosis of neuroblastomas
(NBs) and to aid treatment decisions. MYCN amplification (MNA) alone is an incomplete …

Background Primordial dwarfism (PD) is an extremely rare, clinicallyheterogeneous
condition characterised by profound prenatal and postnatal growth restriction among other …

We present an autosomal-recessive frontonasal dysplasia (FND) characterized by bilateral
extreme microphthalmia, bilateral oblique facial cleft, complete cleft palate, hypertelorism …

Purpose.: To identify the genetic defect in a family with variable retinal phenotypes. The
proband had a diagnosis of Leber congenital amaurosis (LCA), whereas her two cousins …

We describe a statistical method for the characterization of genomic aberrations in single
nucleotide polymorphism microarray data acquired from cancer genomes. Our approach …

Recent advances in genome-wide single-nucleotide polymorphism (SNP) analyses have
revealed previously unrecognized microdeletions and uniparental disomy (UPD) in a broad …

Philadelphia chromosome–negative myeloproliferative neoplasms (MPNs) including
polycythemia vera, essential thrombocythemia, and primary myelofibrosis show an inherent …