Associated Papers
Generation of iPSC lines (UMILi032-A, UMILi033-A, UMILi034-A, UMILi035-A, UMILi036-A) from five Congenital Central Hypoventilation Syndrome patients carrying different poly-alanine expansion mutations in the PHOX2B gene.
Cuadros Gamboa AL et al.
Stem Cell Research, 2026
The Great Genotyper: a graph-based method for population genotyping of small and structural variants.
Shokrof M et al.
Gigascience, 2025
41041811 (PubMed )
Supplement: giaf112_supplemental_files.zip › Supplementary_table_3.xlsx › case_study
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
Hiatt SM et al.
Genome Research, 2024
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
Hiatt SM et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature.
Wang Y et al.
Molecular Genetics & Genomic Medicine, 2023
Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in central congenital hyperventilation syndrome patients by multiplex ligation-dependent probe amplification.
Serra A et al.
Annals of Human Genetics, 2010
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