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Using human sequencing to guide craniofacial research.
Liegel RP, Finnerty E, Blizzard L, DiStasio A, Hufnagel RB, Saal HM, Sund KL, Prows CA, Stottmann RW. Liegel RP, et al. Among authors: stottmann rw. Genesis. 2019 Jan;57(1):e23259. doi: 10.1002/dvg.23259. Epub 2018 Dec 21. Genesis. 2019. PMID: 30375152 Free PMC article.
Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence.
Lukacs M, Gilley J, Zhu Y, Orsomando G, Angeletti C, Liu J, Yang X, Park J, Hopkin RJ, Coleman MP, Zhai RG, Stottmann RW. Lukacs M, et al. Among authors: stottmann rw. Exp Neurol. 2019 Oct;320:112961. doi: 10.1016/j.expneurol.2019.112961. Epub 2019 May 25. Exp Neurol. 2019. PMID: 31136762 Free PMC article.
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS. Magini P, et al. Among authors: stottmann rw. Am J Hum Genet. 2019 Oct 3;105(4):689-705. doi: 10.1016/j.ajhg.2019.08.006. Epub 2019 Sep 5. Am J Hum Genet. 2019. PMID: 31495489 Free PMC article.
Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies.
Inskeep KA, Zarate YA, Monteil D, Spranger J, Doherty D, Stottmann RW, Weaver KN. Inskeep KA, et al. Among authors: stottmann rw. Am J Med Genet A. 2022 Jan;188(1):104-115. doi: 10.1002/ajmg.a.62497. Epub 2021 Sep 15. Am J Med Genet A. 2022. PMID: 34523780 Free PMC article.
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.
Baker EK, Solivio B, Pode-Shakked B, Cross LA, Sullivan B, Raas-Rothschild A, Chorin O, Barel O, Bar-Yosef O, Husami A, Hopkin RJ, Prada CE, Stottmann RW, Weaver KN. Baker EK, et al. Among authors: stottmann rw. Am J Med Genet A. 2022 Nov;188(11):3262-3277. doi: 10.1002/ajmg.a.62946. Epub 2022 Aug 15. Am J Med Genet A. 2022. PMID: 36209351
67 results