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Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis.
Am J Med Genet A. 2024 Jun;194(6):e63548. doi: 10.1002/ajmg.a.63548. Epub 2024 Jan 24.
Am J Med Genet A. 2024.
PMID: 38264805
Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism.
Samra S, Sharma M, Vaseghi-Shanjani M, Del Bel KL, Byres L, Lin S, Dalmann J, Salman A, Mwenifumbo J, Modi BP, Biggs CM, Boelman C, Clarke LA, Lehman A, Turvey SE.
Samra S, et al. Among authors: dalmann j.
HGG Adv. 2023 Dec 1;5(1):100259. doi: 10.1016/j.xhgg.2023.100259. eCollection 2024 Jan 11.
HGG Adv. 2023.
PMID: 38041405
Free PMC article.
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Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC-related disorder.
Sage AP, Lee HK, Dalmann J, Lin S, Samra S, Salman A, Del Bel KL, Li WL, Lehman A, Turvey SE, Boerkoel CF, Richmond PA.
Sage AP, et al. Among authors: dalmann j.
Am J Med Genet A. 2023 Aug;191(8):2219-2224. doi: 10.1002/ajmg.a.63249. Epub 2023 May 17.
Am J Med Genet A. 2023.
PMID: 37196051
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Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.
Sharma M, Leung D, Momenilandi M, Jones LCW, Pacillo L, James AE, Murrell JR, Delafontaine S, Maimaris J, Vaseghi-Shanjani M, Del Bel KL, Lu HY, Chua GT, Di Cesare S, Fornes O, Liu Z, Di Matteo G, Fu MP, Amodio D, Tam IYS, Chan GSW, Sharma AA, Dalmann J, van der Lee R, Blanchard-Rohner G, Lin S, Philippot Q, Richmond PA, Lee JJ, Matthews A, Seear M, Turvey AK, Philips RL, Brown-Whitehorn TF, Gray CJ, Izumi K, Treat JR, Wood KH, Lack J, Khleborodova A, Niemela JE, Yang X, Liang R, Kui L, Wong CSM, Poon GWK, Hoischen A, van der Made CI, Yang J, Chan KW, Rosa Duque JSD, Lee PPW, Ho MHK, Chung BHY, Le HTM, Yang W, Rohani P, Fouladvand A, Rokni-Zadeh H, Changi-Ashtiani M, Miryounesi M, Puel A, Shahrooei M, Finocchi A, Rossi P, Rivalta B, Cifaldi C, Novelli A, Passarelli C, Arasi S, Bullens D, Sauer K, Claeys T, Biggs CM, Morris EC, Rosenzweig SD, O'Shea JJ, Wasserman WW, Bedford HM, van Karnebeek CDM, Palma P, Burns SO, Meyts I, Casanova JL, Lyons JJ, Parvaneh N, Nguyen ATV, Cancrini C, Heimall J, Ahmed H, McKinnon ML, Lau YL, Béziat V, Turvey SE.
Sharma M, et al. Among authors: dalmann j.
J Exp Med. 2023 May 1;220(5):e20221755. doi: 10.1084/jem.20221755. Epub 2023 Mar 8.
J Exp Med. 2023.
PMID: 36884218
Free PMC article.
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Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz-Jeghers syndrome?
Gazzaz N, Frost FG, Alderman E, Richmond PA, Dalmann J, Lin S, Salman A, Del Bel KL, Lehman A, Turvey SE, Boerkoel CF, Cherukuri PF.
Gazzaz N, et al. Among authors: dalmann j.
Am J Med Genet A. 2022 Oct;188(10):3089-3095. doi: 10.1002/ajmg.a.62942. Epub 2022 Aug 10.
Am J Med Genet A. 2022.
PMID: 35946377
Review.
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Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.
Sharma M, Fu MP, Lu HY, Sharma AA, Modi BP, Michalski C, Lin S, Dalmann J, Salman A, Del Bel KL, Waqas M, Terry J, Setiadi A, Lavoie PM, Wasserman WW, Mwenifumbo J, Kobor MS, Lee AF, Kuchenbauer F, Lehman A, Cheng S, Cooper A, Patel MS, Turvey SE.
Sharma M, et al. Among authors: dalmann j.
Blood. 2022 Oct 27;140(17):1858-1874. doi: 10.1182/blood.2022015674.
Blood. 2022.
PMID: 35789258
Free article.
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Can leaky splicing and evasion of premature termination codon surveillance contribute to the phenotypic variability in Alkuraya-Kucinskas syndrome?
Chin HL, Lin S, Dalmann J, Modi B, Alderman E, Salman A, Del Bel KL, Lehman A, Turvey SE, Boerkoel CF.
Chin HL, et al. Among authors: dalmann j.
Eur J Med Genet. 2022 Mar;65(3):104427. doi: 10.1016/j.ejmg.2022.104427. Epub 2022 Jan 19.
Eur J Med Genet. 2022.
PMID: 35063693
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