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Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM; Undiagnosed Diseases Network; Worthey E, Ashley EA, Montgomery SB, Fisher P, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Among authors: bernstein ja. Genet Med. 2024 May 16:101166. doi: 10.1016/j.gim.2024.101166. Online ahead of print. Genet Med. 2024. PMID: 38767059
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome.
Levy T, Gluckman J, Siper PM, Halpern D, Zweifach J, Filip-Dhima R, Holder JL Jr, Trelles MP, Johnson K, Bernstein JA, Berry-Kravis E, Powell CM, Soorya LV, Thurm A, Buxbaum JD, Sahin M, Kolevzon A, Srivastava S; Developmental Synaptopathies Consortium. Levy T, et al. Among authors: bernstein ja. J Neurodev Disord. 2024 May 10;16(1):25. doi: 10.1186/s11689-024-09541-0. J Neurodev Disord. 2024. PMID: 38730350 Free PMC article.
Definition, acronyms, nomenclature, and classification of angioedema (DANCE): AAAAI, ACAAI, ACARE, and APAAACI DANCE consensus.
Reshef A, Buttgereit T, Betschel SD, Caballero T, Farkas H, Grumach AS, Hide M, Jindal AK, Longhurst H, Peter J, Riedl MA, Zhi Y, Aberer W, Abuzakouk M, Al Farsi T, Al Sukaiti N, Al-Ahmad M, Altrichter S, Aygören-Pürsün E, Baeza ML, Bara NA, Bauer A, Bernstein JA, Boccon-Gibod I, Bonnekoh H, Bouillet L, Brzoza Z, Bygum A, Calderon O, de Albuquerque Campos R, Campos Romero FH, Cancian M, Chong-Neto HJ, Christoff G, Cimbollek S, Cohn DM, Craig T, Danilycheva I, Darlenski R, Du-Thanh A, Ensina LF, Fomina D, Fonacier L, Fukunaga A, Gelincik A, Giavina-Bianchi P, Godse K, Gompels M, Goncalo M, Gotua M, Guidos-Fogelbach G, Guilarte M, Kasperska-Zajac A, Katelaris CH, Kinaciyan T, Kolkhir P, Kulthanan K, Kurowski M, Latysheva E, Lauerma A, Launay D, Lleonart R, Lumry W, Malbran A, Ali RM, Nasr I, Nieto-Martinez S, Parisi C, Pawankar R, Piñero-Saavedra M, Popov TA, Porebski G, Prieto Garcia A, Pyatilova P, Rudenko M, Sekerel BE, Serpa FS, Sheikh F, Siebenhaar F, Soria A, Staevska M, Staubach P, Stobiecki M, Thomsen SF, Triggiani M, Valerieva A, Valle S, Van Dinh N, Vera Ayala CE, Zalewska-Janowska A, Zanichelli A, Magerl M, Maurer M. Reshef A, et al. Among authors: bernstein ja. J Allergy Clin Immunol. 2024 Apr 25:S0091-6749(24)00407-X. doi: 10.1016/j.jaci.2024.03.024. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 38670233
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
Chen Y, Dawes R, Kim HC, Stenton SL, Walker S, Ljungdahl A, Lord J, Ganesh VS, Ma J, Martin-Geary AC, Lemire G, D'Souza EN, Dong S, Ellingford JM, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Brown NJ, Burrage LC, Chapman K, Compton AG, Cunningham CA, D'Souza P, Délot EC, Dias KR, Elias ER, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Grant CL, Haack T, Kuechler A, Lalani SR, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lockhart PJ, Ma AS, Macnamara EF, Maurer TM, Mendez HR, Montgomery SB, Nassogne MC, Neumann S, O'Leary M, Palmer EE, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Simons C, Sisodiya SM, Snell P, Clair L, Stark Z, Tan TY, Tan NB, Temple SE, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JM, Sanders SJ, O'Donnell-Luria A, Whiffin N. Chen Y, et al. Among authors: bernstein ja. medRxiv [Preprint]. 2024 Apr 9:2024.04.07.24305438. doi: 10.1101/2024.04.07.24305438. medRxiv. 2024. PMID: 38645094 Free PMC article. Preprint.
Efficacy and Safety of Systemic Corticosteroids for Urticaria: A systematic review and meta-analysis of randomized clinical trials.
Chu X, Wang J, Ologundudu L, Brignardello-Petersen R, Guyatt GH, Oykhman P, Bernstein JA, Saini SS, Beck LA, Waserman S, Moellman J, Khan DA, Ben-Shoshan M, Baker DR, Oliver ET, Sheikh J, Lang D, Mathur SK, Winders T, Eftekhari S, Gardner DD, Runyon L, Asiniwasis RN, Cole EF, Chan J, Wheeler KE, Trayes KP, Tran P, Chu DK. Chu X, et al. Among authors: bernstein ja. J Allergy Clin Immunol Pract. 2024 Apr 18:S2213-2198(24)00400-8. doi: 10.1016/j.jaip.2024.04.016. Online ahead of print. J Allergy Clin Immunol Pract. 2024. PMID: 38642709 Free article.
2,590 results