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Page 1
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features.
Zaki MS, Accogli A, Mirzaa G, Rahman F, Mohammed H, Porras-Hurtado GL, Efthymiou S, Maqbool S, Shukla A, Vincent JB, Hussain A, Mir A, Beetz C, Leubauer A, Houlden H, Gleeson JG, Maroofian R. Zaki MS, et al. Among authors: leubauer a. Eur J Hum Genet. 2021 Aug;29(8):1226-1234. doi: 10.1038/s41431-021-00910-0. Epub 2021 Jun 24. Eur J Hum Genet. 2021. PMID: 34163010 Free PMC article.
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Bertoli-Avella AM, Kandaswamy KK, Khan S, Ordonez-Herrera N, Tripolszki K, Beetz C, Rocha ME, Urzi A, Hotakainen R, Leubauer A, Al-Ali R, Karageorgou V, Moldovan O, Dias P, Alhashem A, Tabarki B, Albalwi MA, Alswaid AF, Al-Hassnan ZN, Alghamdi MA, Hadipour Z, Hadipour F, Al Hashmi N, Al-Gazali L, Cheema H, Zaki MS, Hüning I, Alfares A, Eyaid W, Al Mutairi F, Alfadhel M, Alkuraya FS, Al-Sannaa NA, AlShamsi AM, Ameziane N, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Among authors: leubauer a. Genet Med. 2021 Aug;23(8):1551-1568. doi: 10.1038/s41436-021-01159-0. Epub 2021 Apr 19. Genet Med. 2021. PMID: 33875846 Free PMC article.
Genetic characterization of the Albanian Gaucher disease patient population.
Cullufi P, Tabaku M, Velmishi V, Gjikopulli A, Tomori S, Dervishi E, Tako A, Leubauer A, Westenberger A, Cozma C, Beetz C, Bauer P, Wirth S, Rolfs A. Cullufi P, et al. Among authors: leubauer a. JIMD Rep. 2020 Nov 17;57(1):52-57. doi: 10.1002/jmd2.12167. eCollection 2021 Jan. JIMD Rep. 2020. PMID: 33473340 Free PMC article.
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.
Guatibonza Moreno P, Pardo LM, Pereira C, Schroeder S, Vagiri D, Almeida LS, Juaristi C, Hosny H, Loh CCY, Leubauer A, Torres Morales G, Oppermann S, Iurașcu MI, Fischer S, Steinicke TM, Viceconte N, Cozma C, Kandaswamy KK, Pinto Basto J, Böttcher T, Bauer P, Bertoli-Avella A. Guatibonza Moreno P, et al. Among authors: leubauer a. Eur J Hum Genet. 2023 Oct;31(10):1108-1116. doi: 10.1038/s41431-023-01408-7. Epub 2023 Jul 11. Eur J Hum Genet. 2023. PMID: 37433892 Free PMC article.