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Page 1
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.
Lin SJ, Vona B, Porter HM, Izadi M, Huang K, Lacassie Y, Rosenfeld JA, Khan S, Petree C, Ali TA, Muhammad N, Khan SA, Muhammad N, Liu P, Haymon ML, Rüschendorf F, Kong IK, Schnapp L, Shur N, Chorich L, Layman L, Haaf T, Pourkarimi E, Kim HG, Varshney GK. Lin SJ, et al. Among authors: schnapp l. Hum Mutat. 2022 Oct;43(10):1472-1489. doi: 10.1002/humu.24435. Epub 2022 Jul 21. Hum Mutat. 2022. PMID: 35815345
Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients.
Doll J, Kolb S, Schnapp L, Rad A, Rüschendorf F, Khan I, Adli A, Hasanzadeh A, Liedtke D, Knaup S, Hofrichter MA, Müller T, Dittrich M, Kong IK, Kim HG, Haaf T, Vona B. Doll J, et al. Among authors: schnapp l. Int J Mol Sci. 2020 Jan 2;21(1):311. doi: 10.3390/ijms21010311. Int J Mol Sci. 2020. PMID: 31906439 Free PMC article.
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families.
Doll J, Vona B, Schnapp L, Rüschendorf F, Khan I, Khan S, Muhammad N, Alam Khan S, Nawaz H, Khan A, Ahmad N, Kolb SM, Kühlewein L, Labonne JDJ, Layman LC, Hofrichter MAH, Röder T, Dittrich M, Müller T, Graves TD, Kong IK, Nanda I, Kim HG, Haaf T. Doll J, et al. Among authors: schnapp l. Genes (Basel). 2020 Nov 11;11(11):1329. doi: 10.3390/genes11111329. Genes (Basel). 2020. PMID: 33187236 Free PMC article.
Postinfectious Pulmonary Complications: Establishing Research Priorities to Advance the Field: An Official American Thoracic Society Workshop Report.
Auld SC, Sheshadri A, Alexander-Brett J, Aschner Y, Barczak AK, Basil MC, Cohen KA, Dela Cruz C, McGroder C, Restrepo MI, Ridge KM, Schnapp LM, Traber K, Wunderink RG, Zhang D, Ziady A, Attia EF, Carter J, Chalmers JD, Crothers K, Feldman C, Jones BE, Kaminski N, Keane J, Lewinsohn D, Metersky M, Mizgerd JP, Morris A, Ramirez J, Samarasinghe AE, Staitieh BS, Stek C, Sun J, Evans SE. Auld SC, et al. Among authors: schnapp lm. Ann Am Thorac Soc. 2024 Sep;21(9):1219-1237. doi: 10.1513/AnnalsATS.202406-651ST. Ann Am Thorac Soc. 2024. PMID: 39051991 Review.
Human Airway and Alveolar Organoids from BAL Fluid.
Liu MY, Chen B, Borji M, Garcia de Alba Rivas C, Dost AFM, Moye AL, Movval Abdulla N, Paschini M, Rollins SD, Wang R, Schnapp LM, Khalil HA, Wu CJ, Sharma NS, Kim CF. Liu MY, et al. Among authors: schnapp lm. Am J Respir Crit Care Med. 2024 Jun 15;209(12):1501-1504. doi: 10.1164/rccm.202310-1831LE. Am J Respir Crit Care Med. 2024. PMID: 38652140 Free PMC article. No abstract available.
Circulating biomarker analyses in a longitudinal cohort of patients with IPF.
Ebert C, Walsh AM, Sereda L, Wilson CL, Schafer PH, Fischer A, Zhao L, Ramirez-Valle F, Gordon D, Schnapp LM. Ebert C, et al. Among authors: schnapp lm. Am J Physiol Lung Cell Mol Physiol. 2024 Mar 1;326(3):L303-L312. doi: 10.1152/ajplung.00222.2023. Epub 2024 Jan 16. Am J Physiol Lung Cell Mol Physiol. 2024. PMID: 38226605
107 results