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Debra E. Weese-Mayer

Researcher at Children's Memorial Hospital

Publications -  214
Citations -  10797

Debra E. Weese-Mayer is an academic researcher from Children's Memorial Hospital. The author has contributed to research in topics: Congenital central hypoventilation syndrome & Sudden infant death syndrome. The author has an hindex of 52, co-authored 192 publications receiving 9729 citations. Previous affiliations of Debra E. Weese-Mayer include Northwestern University & Montreal Children's Hospital.

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An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome: Genetic Basis, Diagnosis, and Management

TL;DR: The importance of PHOX2B testing in diagnosing and treating patients with CCHS is demonstrated and a review of pertinent literature allowed for the development of a document that summarizes recent advances in understanding CCHs and expert interpretation of the evidence for management of affected patients.
Journal ArticleDOI

Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b

TL;DR: Genes pertinent to early embryologic development of the ANS including mammalian achaete‐scute homolog‐1 (MASH1), bone morphogenic protein‐2 (BMP2), engrailed‐1(EN1), TLX3, endothelin converting enzyme‐ 1 (ECE1), endothelins‐1 ('EDN1), PHOX2a, andPHOX2b are studied in 67 probands with CCHS, and gender‐