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Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Jones AG, Aquilino M, Tinker RJ, Duncan L, Jenkins Z, Carvill GL, DeWard SJ, Grange DK, Hajianpour MJ, Halliday BJ, Holder-Espinasse M, Horvath J, Maitz S, Nigro V, Morleo M, Paul V, Spencer C, Esterhuizen AI, Polster T, Spano A, Gómez-Lozano I, Kumar A, Poke G, Phillips JA 3rd, Underhill HR, Gimenez G, Namba T, Robertson SP. Jones AG, et al. Among authors: carvill gl. Am J Hum Genet. 2024 Apr 4;111(4):729-741. doi: 10.1016/j.ajhg.2024.03.005. Am J Hum Genet. 2024. PMID: 38579670
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Perne C, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Banos-Pinero B, Pagnamenta AT, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT. Paul MS, et al. Among authors: carvill gl. Am J Hum Genet. 2024 Apr 4;111(4):805. doi: 10.1016/j.ajhg.2024.03.009. Epub 2024 Mar 20. Am J Hum Genet. 2024. PMID: 38508193 Free article. No abstract available.
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA.
Ganesh VS, Riquin K, Chatron N, Lamar KM, Aziz MC, Monin P, O'Leary M, Goodrich JK, Garimella KV, England E, Yoon E, Weisburd B, Aguet F, Bacino CA, Murdock DR, Dai H, Rosenfeld JA, Emrick LT, Ketkar S; Undiagnosed Diseases Network; Sarusi Y, Sanlaville D, Kayani S, Broadbent B, Isidor B, Pengam A, Cogné B, MacArthur DG, Ulitsky I, Carvill GL, O'Donnell-Luria A. Ganesh VS, et al. Among authors: carvill gl. medRxiv [Preprint]. 2024 Feb 7:2024.01.31.24301497. doi: 10.1101/2024.01.31.24301497. medRxiv. 2024. PMID: 38496558 Free PMC article. Preprint.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT. Paul MS, et al. Among authors: carvill gl. Am J Hum Genet. 2024 Jan 4;111(1):96-118. doi: 10.1016/j.ajhg.2023.12.004. Am J Hum Genet. 2024. PMID: 38181735
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.
LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Galey M, Goffena J, Gibson SB, Allan TJ, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, Djekidel N, Rosikiewicz W, McConkey H, Kerkhof J, Levy MA, Relator R, Lev D, Lerman-Sagie T, Park KL, Alders M, Cappuccio G, Chatron N, Demain L, Genevieve D, Lesca G, Roscioli T, Sanlaville D, Tedder ML, Hubshman MW, Ketkar S, Dai H, Worley KC, Rosenfeld JA, Chao HT; Undiagnosed Diseases Network; Neale G, Carvill GL; University of Washington Center for Rare Disease Research; Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC. LaFlamme CW, et al. Among authors: carvill gl. medRxiv [Preprint]. 2023 Oct 12:2023.10.11.23296741. doi: 10.1101/2023.10.11.23296741. medRxiv. 2023. PMID: 37873138 Free PMC article. Preprint.
Raptor Preys on mTOR Imbalance in Tuberous Sclerosis.
Ramamurthy A, Carvill GL. Ramamurthy A, et al. Among authors: carvill gl. Epilepsy Curr. 2023 Jun 13;23(3):193-195. doi: 10.1177/15357597231176235. eCollection 2023 May-Jun. Epilepsy Curr. 2023. PMID: 37334409 Free PMC article. No abstract available.
Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an SCN1A poison exon in epilepsy.
Happ HC, Schneider PN, Hong JH, Goes E, Bandouil M, Biar CG, Ramamurthy A, Reese F, Engel K, Weckhuysen S, Scheffer IE, Mefford HC, Calhoun JD, Carvill GL. Happ HC, et al. Among authors: carvill gl. bioRxiv [Preprint]. 2023 May 4:2023.05.04.538282. doi: 10.1101/2023.05.04.538282. bioRxiv. 2023. PMID: 37205386 Free PMC article. Preprint.
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.
Paul MS, Michener SL, Pan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Pichon JL, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Pichon AD, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Network UD, Bacino CA, Lee BH, Chao HT. Paul MS, et al. Among authors: carvill gl. medRxiv [Preprint]. 2023 Mar 29:2023.03.27.23287689. doi: 10.1101/2023.03.27.23287689. medRxiv. 2023. PMID: 37034625 Free PMC article. Preprint.
76 results