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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2019 | 1 |
2020 | 2 |
2021 | 1 |
2022 | 1 |
2023 | 3 |
2024 | 1 |
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Page 1
Genetic Analysis and Functional Assessment of a TGFBR2 Variant in Micrognathia and Cleft Palate.
bioRxiv [Preprint]. 2024 Apr 11:2024.04.08.588524. doi: 10.1101/2024.04.08.588524.
bioRxiv. 2024.
PMID: 38645005
Free PMC article.
Preprint.
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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Successful therapeutic intervention in new mouse models of frizzled 2-associated congenital malformations.
Liegel RP, Michalski MN, Vaidya S, Bittermann E, Finnerty E, Menke CA, Diegel CR, Zhong ZA, Williams BO, Stottmann RW.
Liegel RP, et al.
Development. 2023 Feb 1;150(3):dev201038. doi: 10.1242/dev.201038. Epub 2023 Feb 15.
Development. 2023.
PMID: 36789910
Free PMC article.
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A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Strong A, Rao S, von Hardenberg S, Li D, Cox LL, Lee PC, Zhang LQ, Awotoye W, Diamond T, Gold J, Gooch C, Gowans LJJ, Hakonarson H, Hing A, Loomes K, Martin N, Marazita ML, Mononen T, Piccoli D, Pfundt R, Raskin S, Scherer SW, Sobriera N, Vaccaro C, Wang X, Watson D, Weksberg R, Bhoj E, Murray JC, Lidral AC, Butali A, Buckley MF, Roscioli T, Koolen DA, Seaver LH, Prows CA, Stottmann RW, Cox TC.
Strong A, et al.
Am J Med Genet A. 2023 May;191(5):1227-1239. doi: 10.1002/ajmg.a.63130. Epub 2023 Feb 7.
Am J Med Genet A. 2023.
PMID: 36751037
Free PMC article.
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Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Khalaf-Nazzal R, Fasham J, Inskeep KA, Blizzard LE, Leslie JS, Wakeling MN, Ubeyratna N, Mitani T, Griffith JL, Baker W, Al-Hijawi F, Keough KC, Gezdirici A, Pena L, Spaeth CG, Turnpenny PD, Walsh JR, Ray R, Neilson A, Kouranova E, Cui X, Curiel DT, Pehlivan D, Akdemir ZC, Posey JE, Lupski JR, Dobyns WB, Stottmann RW, Crosby AH, Baple EL.
Khalaf-Nazzal R, et al.
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.
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Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.
Abell K, Hopkin RJ, Bender PL, Jackson F, Smallwood K, Sullivan B, Stottmann RW, Saal HM, Weaver KN.
Abell K, et al.
Am J Med Genet A. 2021 Feb;185(2):413-423. doi: 10.1002/ajmg.a.61977. Epub 2020 Nov 27.
Am J Med Genet A. 2021.
PMID: 33247512
Free PMC article.
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Nubp2 is required for cranial neural crest survival in the mouse.
DiStasio A, Paulding D, Chaturvedi P, Stottmann RW.
DiStasio A, et al.
Dev Biol. 2020 Feb 15;458(2):189-199. doi: 10.1016/j.ydbio.2019.10.039. Epub 2019 Nov 14.
Dev Biol. 2020.
PMID: 31733190
Free PMC article.
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