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Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology.
Author / Organization: Singh M, Stenton SL, Groopman E, Singer-Berk M, Ma J, Choufani S, O'Heir E, DiTroia S, Osei-Owusu I, Pais L, Lemire G, O'Leary M, Austin-Tse C, Genetti CA, Anderson KN, Wojcik MH, Beggs AH, Neil JE, Lai A, Walsh CA, Jurgens JA, Barry BJ, Engle EC, Donkervoort S, Bönnemann CG, Argilli E, Sherr EH, Kipkemoi P, Bruwer Z, Donald KA, Straub V, Topf A, White SM, Tan TY, Gallacher L, Arts P, Jackson MR, Ha TT, Barnett CP, Byrne AB, Scott HS, Ganesh VS, Rehm HL, Weksberg R, O'Donnell-Luria A, Gudmundsson S
| File Format | PDF (Portable Document Format) |
|---|---|
| Publication Year | 2026 |
| Source Host |
PubMed Central
(pmc.ncbi.nlm.nih.gov)
|
| License / Terms | Open Access / Creative Commons |
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