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Year | Number of Results |
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2020 | 1 |
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Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Genet Med. 2020 Jun;22(6):1005-1014. doi: 10.1038/s41436-020-0766-9. Epub 2020 Mar 3.
Genet Med. 2020.
PMID: 32123317
Free PMC article.
Evaluating the Immune Response in Treatment-Naive Hospitalised Patients With Influenza and COVID-19.
Legebeke J, Lord J, Penrice-Randal R, Vallejo AF, Poole S, Brendish NJ, Dong X, Hartley C, Holloway JW, Lucas JS, Williams AP, Wheway G, Strazzeri F, Gardner A, Schofield JPR, Skipp PJ, Hiscox JA, Polak ME, Clark TW, Baralle D.
Legebeke J, et al.
Front Immunol. 2022 May 19;13:853265. doi: 10.3389/fimmu.2022.853265. eCollection 2022.
Front Immunol. 2022.
PMID: 35663963
Free PMC article.
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Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.
Ostrowski PJ, Zachariou A, Loveday C, Baralle D, Blair E, Douzgou S, Field M, Foster A, Kyle C, Lachlan K, Mansour S, Naik S, Rea G, Smithson S, Sznajer Y, Thompson E, Cole T, Tatton-Brown K.
Ostrowski PJ, et al.
Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):638-643. doi: 10.1002/ajmg.c.31750. Epub 2019 Nov 12.
Am J Med Genet C Semin Med Genet. 2019.
PMID: 31714006
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Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Cali E, Suri M, Scala M, Ferla MP, Alavi S, Faqeih EA, Bijlsma EK, Wigby KM, Baralle D, Mehrjardi MYV, Schwab J, Platzer K, Steindl K, Hashem M, Jones M, Niyazov DM, Jacober J, Littlejohn RO, Weis D, Zadeh N, Rodan L, Goldenberg A, Lecoquierre F, Dutra-Clarke M, Horvath G, Young D, Orenstein N, Bawazeer S, Vulto-van Silfhout AT, Herenger Y, Dehghani M, Seyedhassani SM, Bahreini A, Nasab ME, Ercan-Sencicek AG, Firoozfar Z, Movahedinia M, Efthymiou S, Striano P, Karimiani EG, Salpietro V, Taylor JC, Redman M, Stegmann APA, Laner A, Abdel-Salam G, Li M, Bengala M, Müller AJ, Digilio MC, Rauch A, Gunel M, Titheradge H, Schweitzer DN, Kraus A, Valenzuela I, McLean SD, Phornphutkul C, Salih M, Begtrup A, Schnur RE, Torti E, Haack TB, Prada CE, Alkuraya FS, Houlden H, Maroofian R.
Cali E, et al.
Genet Med. 2023 Jan;25(1):135-142. doi: 10.1016/j.gim.2022.09.016. Epub 2022 Nov 18.
Genet Med. 2023.
PMID: 36399134
Free PMC article.
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A novel ACE2 isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection.
Blume C, Jackson CL, Spalluto CM, Legebeke J, Nazlamova L, Conforti F, Perotin JM, Frank M, Butler J, Crispin M, Coles J, Thompson J, Ridley RA, Dean LSN, Loxham M, Reikine S, Azim A, Tariq K, Johnston DA, Skipp PJ, Djukanovic R, Baralle D, McCormick CJ, Davies DE, Lucas JS, Wheway G, Mennella V.
Blume C, et al.
Nat Genet. 2021 Feb;53(2):205-214. doi: 10.1038/s41588-020-00759-x. Epub 2021 Jan 11.
Nat Genet. 2021.
PMID: 33432184
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