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Page 1
Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.
Vishnopolska SA, Mercogliano MF, Camilletti MA, Mortensen AH, Braslavsky D, Keselman A, Bergadá I, Olivieri F, Miranda L, Marino R, Ramírez P, Pérez Garrido N, Patiño Mejia H, Ciaccio M, Di Palma MI, Belgorosky A, Martí MA, Kitzman JO, Camper SA, Pérez-Millán MI. Vishnopolska SA, et al. Among authors: kitzman jo. J Clin Endocrinol Metab. 2021 Jun 16;106(7):1956-1976. doi: 10.1210/clinem/dgab177. J Clin Endocrinol Metab. 2021. PMID: 33729509 Free PMC article.
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q, George AS, Brinkmeier ML, Mortensen AH, Gergics P, Cheung LY, Daly AZ, Ajmal A, Pérez Millán MI, Ozel AB, Kitzman JO, Mills RE, Li JZ, Camper SA. Fang Q, et al. Among authors: kitzman jo. Endocr Rev. 2016 Dec;37(6):636-675. doi: 10.1210/er.2016-1101. Epub 2016 Nov 9. Endocr Rev. 2016. PMID: 27828722 Free PMC article. Review.
Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism.
Pérez Millán MI, Vishnopolska SA, Daly AZ, Bustamante JP, Seilicovich A, Bergadá I, Braslavsky D, Keselman AC, Lemons RM, Mortensen AH, Marti MA, Camper SA, Kitzman JO. Pérez Millán MI, et al. Among authors: kitzman jo. Mol Genet Genomic Med. 2018 May 8;6(4):514-25. doi: 10.1002/mgg3.395. Online ahead of print. Mol Genet Genomic Med. 2018. PMID: 29739035 Free PMC article.
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.
Gergics P, Smith C, Bando H, Jorge AAL, Rockstroh-Lippold D, Vishnopolska SA, Castinetti F, Maksutova M, Carvalho LRS, Hoppmann J, Martínez Mayer J, Albarel F, Braslavsky D, Keselman A, Bergadá I, Martí MA, Saveanu A, Barlier A, Abou Jamra R, Guo MH, Dauber A, Nakaguma M, Mendonca BB, Jayakody SN, Ozel AB, Fang Q, Ma Q, Li JZ, Brue T, Pérez Millán MI, Arnhold IJP, Pfaeffle R, Kitzman JO, Camper SA. Gergics P, et al. Among authors: kitzman jo. Am J Hum Genet. 2021 Aug 5;108(8):1526-1539. doi: 10.1016/j.ajhg.2021.06.013. Epub 2021 Jul 15. Am J Hum Genet. 2021. PMID: 34270938 Free PMC article.
Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection.
Wolford BN, Hornsby WE, Guo D, Zhou W, Lin M, Farhat L, McNamara J, Driscoll A, Wu X, Schmidt EM, Norton EL, Mathis MR, Ganesh SK, Douville NJ, Brummett CM, Kitzman J, Chen YE, Kim K, Deeb GM, Patel H, Eagle KA, Milewicz DM, J Willer C, Yang B. Wolford BN, et al. Circ Genom Precis Med. 2019 Jun;12(6):e002476. doi: 10.1161/CIRCGEN.118.002476. Epub 2019 Jun 18. Circ Genom Precis Med. 2019. PMID: 31211624 Free PMC article.
CRISPR knockout screen implicates three genes in lysosome function.
Lenk GM, Park YN, Lemons R, Flynn E, Plank M, Frei CM, Davis MJ, Gregorka B, Swanson JA, Meisler MH, Kitzman JO. Lenk GM, et al. Among authors: kitzman jo. Sci Rep. 2019 Jul 3;9(1):9609. doi: 10.1038/s41598-019-45939-w. Sci Rep. 2019. PMID: 31270356 Free PMC article.
68 results