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Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology.
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

Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology.

Medicine & Health Published 2026 Verification Pending

Overview & Synopsis

Open access biomedical research article published in medRxiv.

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Indexed from repository: PubMed Central (pmc.ncbi.nlm.nih.gov)
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Document Title 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
Subject & Discipline medRxiv
Categories Medicine & Health
Publication Year 2026
License / Rights Open Access / Creative Commons
Resource Verification Listed PDF (Verification Pending)
Original Host Website PubMed Central (pmc.ncbi.nlm.nih.gov)
File Format application/pdf (Portable Document Format)
Language EN
Catalog ID DOC-20044
Original Source Link Visit Source Page on pmc.ncbi.nlm.nih.gov »