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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Among authors: cohen s. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
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: cohen sr, cohen asa. 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
SARS-CoV-2 Viral Load in the Nasopharynx at Time of First Infection Among Unvaccinated Individuals: A Secondary Cross-Protocol Analysis of 4 Randomized Trials.
Fisher LH, Kee JJ, Liu A, Espinosa CM, Randhawa AK, Ludwig J, Magaret CA, Robinson ST, Gilbert PB, Hyrien O, Kublin JG, Rouphael N, Falsey AR, Sobieszczyk ME, El Sahly HM, Grinsztejn B, Gray GE, Kotloff KL, Gay CL, Leav B, Hirsch I, Struyf F, Dunkle LM, Neuzil KM, Corey L, Huang Y, Goepfert PA, Walsh SR, Baden LR, Janes H; COVID-19 Prevention Network (CoVPN). Fisher LH, et al. JAMA Netw Open. 2024 May 1;7(5):e2412835. doi: 10.1001/jamanetworkopen.2024.12835. JAMA Netw Open. 2024. PMID: 38780941 Free article.
Effectiveness and Safety of Ustekinumab in Pediatric Ulcerative Colitis: A Multi-center Retrospective Study from the Pediatric IBD Porto Group of ESPGHAN.
Cohen S, Rolandsdotter H, Kolho KL, Turner D, Tzivinikos C, Bramuzzo M, Pujol-Muncunill G, Scarallo L, Urlep D, Rinawi F, Granot M, Kang B, Longueville Y, Rodríguez-Belvís MV, Weintraub Y, Navas-López VM, Yerushalmy-Feler A. Cohen S, et al. Paediatr Drugs. 2024 May 23. doi: 10.1007/s40272-024-00631-z. Online ahead of print. Paediatr Drugs. 2024. PMID: 38780740
Baseline characteristics and recruitment for SWOG S1820: altering intake, managing bowel symptoms in survivors of rectal cancer (AIMS-RC).
Sun V, Thomson CA, Crane TE, Arnold KB, Guthrie KA, Freylersythe SG, Braun-Inglis C, Jones L, Carmichael JC, Messick C, Flaherty D, Ambrale S, Cohen SA, Krouse RS. Sun V, et al. Among authors: cohen sa. Support Care Cancer. 2024 May 22;32(6):371. doi: 10.1007/s00520-024-08527-x. Support Care Cancer. 2024. PMID: 38775966 Free PMC article.
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