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Page 1
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Pan X, Tao AM, Lu S, Ma M, Hannan SB, Slaugh R, Drewes Williams S, O'Grady L, Kanca O, Person R, Carter MT, Platzer K, Schnabel F, Abou Jamra R, Roberts AE, Newburger JW, Revah-Politi A, Granadillo JL, Stegmann APA, Sinnema M, Accogli A, Salpietro V, Capra V, Ghaloul-Gonzalez L, Brueckner M, Simon MEH, Sweetser DA, Glinton KE, Kirk SE; Baylor College of Medicine Center for Precision Medicine Models; Wangler MF, Yamamoto S, Chung WK, Bellen HJ. Pan X, et al. Am J Hum Genet. 2024 Apr 4;111(4):742-760. doi: 10.1016/j.ajhg.2024.02.007. Epub 2024 Mar 12. Am J Hum Genet. 2024. PMID: 38479391 Free PMC article.
A Multi-Center International Analysis of Lung Transplantation Outcomes in Patients With COVID-19.
Kashem MA, Loor G, Emtiazjoo A, Hartwig M, Van Raemdonck D, Calvelli H, Leon Pena A, Salan-Gomez M, Zhao H, Warnick M, Villavicencio M, Ius F, Ghadimi K, Salman J, Chandrashekaran S, Machuca T, Sanchez PG, Subramaniam K, Neyrinck A, Huddleston S, Ceulemans L, Osho A, D'Silva E, Ramamurthy U, Shaffer A, Langer N, Toyoda Y. Kashem MA, et al. Among authors: ramamurthy u. Clin Transplant. 2024 Sep;38(9):e15462. doi: 10.1111/ctr.15462. Clin Transplant. 2024. PMID: 39315691
A multicenter analysis of lung transplantation outcomes comparing donation after circulatory death and donation after brain death.
Abul Kashem M, Loor G, Hartwig M, Van Raemdonck D, Villavicencio M, Ius F, Ghadimi K, Salman J, Chandrashekaran S, Machuca T, Sanchez PG, Subramaniam K, Neyrinck A, Calvelli H, Warnick M, Zhao H, Huddleston S, Osho A, D'Silva E, Ramamurthy U, Pena AL, Salan-Gomez M, Shaffer A, Langer N, Emtiazjoo A, Toyoda Y. Abul Kashem M, et al. Among authors: ramamurthy u. JHLT Open. 2024 Jul 24;6:100132. doi: 10.1016/j.jhlto.2024.100132. eCollection 2024 Nov. JHLT Open. 2024. PMID: 40145031 Free PMC article.
C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder.
Mok JW, Mackay L, Blazo M, Mizerik E, Gecz J, Carroll R, Nizon M, Rondeau S, Joubert M, Cuinat S, Deb W, Valle Sirias F, Weisz-Hubshman M, Ketkar S, Polak U, Tran AA, Kearney D, Hanchard NA, Kanca O, Wangler MF, Bellen HJ, Lee BH; Baylor College of Medicine Center for Precision Medicine Models; Yamamoto S, Machol K. Mok JW, et al. Genet Med. 2025 Jul;27(7):101429. doi: 10.1016/j.gim.2025.101429. Epub 2025 Apr 10. Genet Med. 2025. PMID: 40221893 Free PMC article.
Mendelian gene identification through mouse embryo viability screening.
Cacheiro P, Westerberg CH, Mager J, Dickinson ME, Nutter LMJ, Muñoz-Fuentes V, Hsu CW, Van den Veyver IB, Flenniken AM, McKerlie C, Murray SA, Teboul L, Heaney JD, Lloyd KCK, Lanoue L, Braun RE, White JK, Creighton AK, Laurin V, Guo R, Qu D, Wells S, Cleak J, Bunton-Stasyshyn R, Stewart M, Harrisson J, Mason J, Haseli Mashhadi H, Parkinson H, Mallon AM; International Mouse Phenotyping Consortium; Genomics England Research Consortium; Smedley D. Cacheiro P, et al. Genome Med. 2022 Oct 13;14(1):119. doi: 10.1186/s13073-022-01118-7. Genome Med. 2022. PMID: 36229886 Free PMC article.
32 results