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Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Am J Hum Genet. 2022 Nov 3;109(11):2068-2079. doi: 10.1016/j.ajhg.2022.09.012. Epub 2022 Oct 24.
Am J Hum Genet. 2022.
PMID: 36283405
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.
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.
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POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
Smallwood K, Watt KEN, Ide S, Baltrunaite K, Brunswick C, Inskeep K, Capannari C, Adam MP, Begtrup A, Bertola DR, Demmer L, Demo E, Devinsky O, Gallagher ER, Guillen Sacoto MJ, Jech R, Keren B, Kussmann J, Ladda R, Lansdon LA, Lunke S, Mardy A, McWalters K, Person R, Raiti L, Saitoh N, Saunders CJ, Schnur R, Skorvanek M, Sell SL, Slavotinek A, Sullivan BR, Stark Z, Symonds JD, Wenger T, Weber S, Whalen S, White SM, Winkelmann J, Zech M, Zeidler S, Maeshima K, Stottmann RW, Trainor PA, Weaver KN.
Smallwood K, et al.
Am J Hum Genet. 2023 May 4;110(5):809-825. doi: 10.1016/j.ajhg.2023.03.014. Epub 2023 Apr 18.
Am J Hum Genet. 2023.
PMID: 37075751
Free PMC article.
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SMPD4 mediated sphingolipid metabolism regulates brain and primary cilia development.
Inskeep KA, Crase B, Stottmann RW.
Inskeep KA, et al.
bioRxiv [Preprint]. 2023 Dec 16:2023.12.15.571873. doi: 10.1101/2023.12.15.571873.
bioRxiv. 2023.
PMID: 38168190
Free PMC article.
Preprint.
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Divergent diapause life history timing drives both allochronic speciation and reticulate hybridization in an adaptive radiation of Rhagoletis flies.
Inskeep KA, Doellman MM, Powell THQ, Berlocher SH, Seifert NR, Hood GR, Ragland GJ, Meyers PJ, Feder JL.
Inskeep KA, et al.
Mol Ecol. 2022 Aug;31(15):4031-4049. doi: 10.1111/mec.15908. Epub 2021 Apr 22.
Mol Ecol. 2022.
PMID: 33786930
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