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PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.
Dingemans AJM, Hinne M, Truijen KMG, Goltstein L, van Reeuwijk J, de Leeuw N, Schuurs-Hoeijmakers J, Pfundt R, Diets IJ, den Hoed J, de Boer E, Coenen-van der Spek J, Jansen S, van Bon BW, Jonis N, Ockeloen CW, Vulto-van Silfhout AT, Kleefstra T, Koolen DA, Campeau PM, Palmer EE, Van Esch H, Lyon GJ, Alkuraya FS, Rauch A, Marom R, Baralle D, van der Sluijs PJ, Santen GWE, Kooy RF, van Gerven MAJ, Vissers LELM, de Vries BBA. Dingemans AJM, et al. Among authors: baralle d. Nat Genet. 2023 Sep;55(9):1598-1607. doi: 10.1038/s41588-023-01469-w. Epub 2023 Aug 7. Nat Genet. 2023. PMID: 37550531
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. Among authors: baralle d. Front Immunol. 2022 May 19;13:853265. doi: 10.3389/fimmu.2022.853265. eCollection 2022. Front Immunol. 2022. PMID: 35663963 Free PMC article.
A study of splicing mutations in disorders of sex development.
de Calais FL, Smith LD, Raponi M, Maciel-Guerra AT, Guerra-Junior G, de Mello MP, Baralle D. de Calais FL, et al. Among authors: baralle d. Sci Rep. 2017 Nov 24;7(1):16202. doi: 10.1038/s41598-017-16296-3. Sci Rep. 2017. PMID: 29176693 Free PMC article.
Linkage analysis of idiopathic generalised epilepsy in families of probands with Juvenile Myoclonic Epilepsy and marker loci in the region of EPM 1 on chromosome 21 q: Unverricht-Lundborg disease and JME are not allelic variants.
Rees M, Curtis D, Parker K, Sundqvist A, Baralle D, Bespalova IN, Burmeister M, Chung E, Gardiner RM, Whitehouse WP. Rees M, et al. Among authors: baralle d. Neuropediatrics. 1994 Feb;25(1):20-5. doi: 10.1055/s-2008-1071576. Neuropediatrics. 1994. PMID: 8208346
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.
Jeffries AR, Maroofian R, Salter CG, Chioza BA, Cross HE, Patton MA, Dempster E, Temple IK, Mackay DJG, Rezwan FI, Aksglaede L, Baralle D, Dabir T, Hunter MF, Kamath A, Kumar A, Newbury-Ecob R, Selicorni A, Springer A, Van Maldergem L, Varghese V, Yachelevich N, Tatton-Brown K, Mill J, Crosby AH, Baple EL. Jeffries AR, et al. Among authors: baralle d. Genome Res. 2019 Jul;29(7):1057-1066. doi: 10.1101/gr.243584.118. Epub 2019 Jun 3. Genome Res. 2019. PMID: 31160375 Free PMC article.
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.
Macken WL, Godwin A, Wheway G, Stals K, Nazlamova L, Ellard S, Alfares A, Aloraini T, AlSubaie L, Alfadhel M, Alajaji S, Wai HA, Self J, Douglas AGL, Kao AP, Guille M, Baralle D. Macken WL, et al. Among authors: baralle d. Genome Med. 2021 Feb 25;13(1):34. doi: 10.1186/s13073-021-00850-w. Genome Med. 2021. PMID: 33632302 Free PMC article.
165 results