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Page 1
Rare coding variants in CHRNB2 reduce the likelihood of smoking.
Rajagopal VM, Watanabe K, Mbatchou J, Ayer A, Quon P, Sharma D, Kessler MD, Praveen K, Gelfman S, Parikshak N, Otto JM, Bao S, Chim SM, Pavlopoulos E, Avbersek A, Kapoor M, Chen E, Jones MB, Leblanc M, Emberson J, Collins R, Torres J, Morales PK, Tapia-Conyer R, Alegre J, Berumen J; GHS-REGN DiscovEHR collaboration; Regeneron Genetics Center; Shuldiner AR, Balasubramanian S, Abecasis GR, Kang HM, Marchini J, Stahl EA, Jorgenson E, Sanchez R, Liedtke W, Anderson M, Cantor M, Lederer D, Baras A, Coppola G. Rajagopal VM, et al. Among authors: lederer d. Nat Genet. 2023 Jul;55(7):1138-1148. doi: 10.1038/s41588-023-01417-8. Epub 2023 Jun 12. Nat Genet. 2023. PMID: 37308787 Free PMC article.
Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.
Rossi A, Lin SXN, Absalom NL, Ortiz-De la Rosa S, Liao VWY, Mohammadi NA, Viswanathan S, Stödberg T, Danieli A, Bonanni P, Aeby A, Orsini A, Bonuccelli A, Rüegger A, Giraldez BG, Isidor B, Stüve B, Marini C, Cesaroni E, Fenger CD, Philippe C, Meunier C, Lederer D, Moortgat S, Spinelli E, Fallica E, Zeiner F, Bauman M, Licchetta L, Bisulli F, Operto FF, Benkel-Herrenbrueck I, Gorman KM, Johannesen KM, Platzer K, Schnabel F, Lagae L, Laufs M, Zordania R, Malone S, Messana T, Werckx W, Jonsson C, Afawi Z, Foiadelli T, Halleb Y, Stoeva R, Jennesson-Lyver M, Lesca G, Guerrini R, Berkovic SF, Scheffer IE, Chebib M, Gardella E, Møller RS, Rubboli G, Ahring PK. Rossi A, et al. Among authors: lederer d. Neurology. 2025 Jul 22;105(2):e213644. doi: 10.1212/WNL.0000000000213644. Epub 2025 Jun 26. Neurology. 2025. PMID: 40570274 Free PMC article.
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.
Hildonen M, Ciolfi A, Ferilli M, Cappelletti C, Al Alam C, Amor DJ, Barakat TS, Benoit V, Birk OS, Callewaert B, Cazurro-Gutiérrez A, De Wachter M, Doco-Fenzy M, Gómez-Puertas P, Hammer TB, Jamra RA, Kaiyrzhanov R, Kameyama S, Keren B, Kresge C, Krey I, Lederer D, Marcos-Alcalde I, Maroofian R, Matsumoto N, Mizuguchi T, Moey LH, Morgan A, Munell F, Platzer K, Pletcher BA, Ros-Pardo D, Rumping L, Szakszon K, Van Schil K, Verdura E, Vogt J, Wassmer E, Zamani M, Tümer Z, Tartaglia M. Hildonen M, et al. Among authors: lederer d. Eur J Hum Genet. 2025 May 23. doi: 10.1038/s41431-025-01876-z. Online ahead of print. Eur J Hum Genet. 2025. PMID: 40410387
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. 2025 Jan;13(1):132-142. doi: 10.1016/j.jaip.2024.10.009. Epub 2024 Oct 16. J Allergy Clin Immunol Pract. 2025. 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.
369 results