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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 Free PMC article.
Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals.
Galer PD, Parthasarathy S, Xian J, McKee JL, Ruggiero SM, Ganesan S, Kaufman MC, Cohen SR, Haag S, Chen C, Ojemann WKS, Kim D, Wilmarth O, Vaidiswaran P, Sederman C, Ellis CA, Gonzalez AK, Boßelmann CM, Lal D, Sederman R, Lewis-Smith D, Litt B, Helbig I. Galer PD, et al. Among authors: cohen sr. Genet Med. 2024 Nov;26(11):101211. doi: 10.1016/j.gim.2024.101211. Epub 2024 Jul 14. Genet Med. 2024. PMID: 39011766
Phenotype Spectrum of TRPM3-Associated Disorders.
Jolitz L, Helbig I, Fitzgerald MP, McKeown Ruggiero S, Cohen S, Angelini C, Vallespin E, Michaud V, Gerasimenko A, Cogne B, Isidor B, Keren B, Dyment D, Heron D, Karstensen HG, Cuppen I, Christodoulou J, Wilson M, Lake NJ, Biskup S, Syrbe S, Mori T, Becker LL, Kaindl AM. Jolitz L, et al. Among authors: cohen s. Ann Neurol. 2025 Jan 3. doi: 10.1002/ana.27141. Online ahead of print. Ann Neurol. 2025. PMID: 39749750
Sewing the SEAMs: Surgical Education in the Art Museum.
Cohen SM, DiGiovanni-Evans B, Ganske IM, Katz JT, Kent TS. Cohen SM, et al. J Surg Educ. 2025 Jan 10;82(3):103401. doi: 10.1016/j.jsurg.2024.103401. Online ahead of print. J Surg Educ. 2025. PMID: 39798165
Variations and Opportunities in Postnatal Management of Hemolytic Disease of the Fetus and Newborn.
de Winter DP, Verweij EJTJ, Debeer A, Devlieger R, Lewi L, Verbeeck S, Maurice P, Jouannic JM, Guillemin MG, Mailloux A, Pessoa Dos Santos MC, Amaral de Moura Sá Pacheco C, Lopes Moreira ME, Martins de Vasconcelos Vaena M, Bohlin K, Tiblad E, Thorup E, Petersen OB, Sanchez-Holgado M, Viejo Llorente A, Poljak B, Khalil A, Le Duc K, Ghesquiere L, Lozar Krivec J, Soltirovska-Šalamon A, Dame C, Blank JD, Hohnecker A, Saxonhouse M, Connors NK, Geipel A, Rath J, Prasad S, van Wyk L, Geerts L, Schuler R, Thon N, Leibovitch L, Cohen S, Canul-Euan AA, Kelly E, Raghuram K, Cavigioli F, Colombo SFG, Elanjikal Z, Brayley J, Pfurtscheller D, Pichler G, Alcázar Grisi ÁG, Chávez Navarro EJJ, Pereira-Nunes J, Soares H, Zhou M, Garcia Borau MJ, Moliner Calderón E, Galletti MF, Mariani GL, Mackin D, Malone F, Lampland A, Tse WT, Castleman J, van der Bom JG, de Haas M, Lopriore E; Worldwide Collaboration for Hemolytic Disease of the Fetus and Newborn (DIONYSUS) Investigators. de Winter DP, et al. Among authors: cohen s. JAMA Netw Open. 2025 Jan 2;8(1):e2454330. doi: 10.1001/jamanetworkopen.2024.54330. JAMA Netw Open. 2025. PMID: 39792381 Free PMC article.
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