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Page 1
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Dupilumab Induces Long-term On-Treatment Clinical Remission in Patients With Type 2 Asthma.
Pavord ID, Rabe KF, Israel E, Szefler SJ, Brusselle G, Pandit-Abid N, Altincatal A, Chen Z, Amin N, Khan AH, Lederer DJ, Zhang Y, Rowe PJ, Deniz Y, Radwan A, Jacob-Nara JA, Busse WW. Pavord ID, et al. Among authors: lederer dj. J Allergy Clin Immunol Pract. 2024 Oct 16:S2213-2198(24)01063-8. doi: 10.1016/j.jaip.2024.10.009. Online ahead of print. J Allergy Clin Immunol Pract. 2024. PMID: 39424189 Free article.
AERIFY-1/2: two phase 3, randomised, controlled trials of itepekimab in former smokers with moderate-to-severe COPD.
Rabe KF, Martinez FJ, Bhatt SP, Kawayama T, Cosio BG, Mroz RM, Boomsma MM, Goulaouic H, Nivens MC, Djandji M, Soler X, Liu Y, Kosloski MP, Xu CR, Amin N, Staudinger H, Lederer DJ, Abdulai RM. Rabe KF, et al. Among authors: lederer dj. ERJ Open Res. 2024 Sep 23;10(5):00718-2023. doi: 10.1183/23120541.00718-2023. eCollection 2024 Sep. ERJ Open Res. 2024. PMID: 39319046 Free PMC article.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Dupilumab Efficacy in Children With Type 2 Asthma Receiving High/Medium-Dose ICS (VOYAGE).
Maspero JF, Antila MA, Deschildre A, Bacharier LB, Altincatal A, Laws E, Mortensen E, Radwan A, Jacob-Nara JA, Deniz Y, Rowe PJ, Lederer DJ, Hardin M. Maspero JF, et al. Among authors: lederer dj. J Allergy Clin Immunol Pract. 2024 Aug 27:S2213-2198(24)00858-4. doi: 10.1016/j.jaip.2024.08.038. Online ahead of print. J Allergy Clin Immunol Pract. 2024. PMID: 39209068 Free article.
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Rots D, Bouman A, Yamada A, Levy M, Dingemans AJM, de Vries BBA, Ruiterkamp-Versteeg M, de Leeuw N, Ockeloen CW, Pfundt R, de Boer E, Kummeling J, van Bon B, van Bokhoven H, Kasri NN, Venselaar H, Alders M, Kerkhof J, McConkey H, Kuechler A, Elffers B, van Beeck Calkoen R, Hofman S, Smith A, Valenzuela MI, Srivastava S, Frazier Z, Maystadt I, Piscopo C, Merla G, Balasubramanian M, Santen GWE, Metcalfe K, Park SM, Pasquier L, Banka S, Donnai D, Weisberg D, Strobl-Wildemann G, Wagemans A, Vreeburg M, Baralle D, Foulds N, Scurr I, Brunetti-Pierri N, van Hagen JM, Bijlsma EK, Hakonen AH, Courage C, Genevieve D, Pinson L, Forzano F, Deshpande C, Kluskens ML, Welling L, Plomp AS, Vanhoutte EK, Kalsner L, Hol JA, Putoux A, Lazier J, Vasudevan P, Ames E, O'Shea J, Lederer D, Fleischer J, O'Connor M, Pauly M, Vasileiou G, Reis A, Kiraly-Borri C, Bouman A, Barnett C, Nezarati M, Borch L, Beunders G, Özcan K, Miot S, Volker-Touw CML, van Gassen KLI, Cappuccio G, Janssens K, Mor N, Shomer I, Dominissini D, Tedder ML, Muir AM, Sadikovic B, Brunner HG, Vissers LELM, Shinkai Y, Kleefstra T. Rots D, et al. Among authors: lederer d. Am J Hum Genet. 2024 Aug 8;111(8):1605-1625. doi: 10.1016/j.ajhg.2024.06.008. Epub 2024 Jul 15. Am J Hum Genet. 2024. PMID: 39013458
365 results