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Low incidence of DNA sequence variation in human induced pluripotent stem cells generated by nonintegrating plasmid expression.
The utility of induced pluripotent stem cells (iPSCs) as models to study diseases and as sources for cell therapy depends on the integrity of their genomes. Despite recent publications of DNAExpand
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Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation
Background Diamond-Blackfan anaemia (DBA) is an inherited bone marrow failure syndrome (IBMFS) characterised by erythroid hypoplasia. It is associated with congenital anomalies and a high risk ofExpand
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Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia.
Fanconi anemia (FA) is a rare bone marrow failure and cancer predisposition syndrome resulting from pathogenic mutations in genes encoding proteins participating in the repair of DNA interstrandExpand
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A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families
Fanconi anemia (FA) is a rare recessive DNA repair deficiency resulting from mutations in one of at least 22 genes. Two‐thirds of FA families harbor mutations in FANCA. To genotype patients in theExpand
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Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.
Current methods for detecting mutations in Fanconi anemia (FA)-suspected patients are inefficient and often miss mutations. We have applied recent advances in DNA sequencing and genomic capture toExpand
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iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations
Significance One important unsolved question in the stem cell field is, do induced pluripotent stem cells (iPSCs) have more mutations than other cultured somatic cells because of the reprogrammingExpand
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Neuroanatomic, epigenetic, and genetic differences in monozygotic twins discordant for Attention Deficit Hyperactivity Disorder
The study of monozygotic twins discordant for attention deficit hyperactivity disorder can elucidate mechanisms that contribute to the disorder, which affects ~7% of children. First, using in vivoExpand
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Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening
Context: Turner syndrome (TS) is due to a complete or partial loss of an X chromosome in female patients and is not currently part of newborn screening (NBS). Diagnosis is often delayed, resulting inExpand
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Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia
Fanconi anemia (FA) is a rare inherited disorder caused by pathogenic variants in one of 19 FANC genes. FA patients display congenital abnormalities, and develop bone marrow failure, and cancerExpand
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A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India
Fanconi anemia (FA) is a rare genetic disorder characterized by bone marrow failure, predisposition to cancer, and congenital abnormalities. FA is caused by pathogenic variants in any of 22 genesExpand
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