Associated Papers
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_12
Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation.
Meylemans A et al.
Acta Neurologica Belgica, 2021
Causative and common PHOX2B variants define a broad phenotypic spectrum.
Bachetti T et al.
Clinical Genetics, 2020
Congenital heart disease and aortic arch variants associated with mutation in PHOX2B.
Lombardo RC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Atypical presentations associated with non-polyalanine repeat PHOX2B mutations.
Katwa U et al.
American Journal of Medical Genetics. Part A, 2018
The genetics of congenital central hypoventilation syndrome: clinical implications.
Bishara J et al.
The Application of Clinical Genetics, 2018
Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation.
Schirwani S et al.
Journal of Clinical Sleep Medicine : Jcsm : Official Publication of the American Academy of Sleep Medicine, 2017
37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting.
Keppler-Noreuil KM et al.
American Journal of Medical Genetics. Part A, 2017
Variable phenotype in a novel mutation in PHOX2B.
Lombardo RC et al.
American Journal of Medical Genetics. Part A, 2017
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