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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Genet Med. 2020 Jul;22(7):1215-1226. doi: 10.1038/s41436-020-0792-7. Epub 2020 May 7.
Genet Med. 2020.
PMID: 32376980
Free PMC article.
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
Pilarowski GO, Vernon HJ, Applegate CD, Boukas L, Cho MT, Gurnett CA, Benke PJ, Beaver E, Heeley JM, Medne L, Krantz ID, Azage M, Niyazov D, Henderson LB, Wentzensen IM, Baskin B, Sacoto MJG, Bowman GD, Bjornsson HT.
Pilarowski GO, et al.
J Med Genet. 2018 Aug;55(8):561-566. doi: 10.1136/jmedgenet-2017-104759. Epub 2017 Sep 2.
J Med Genet. 2018.
PMID: 28866611
Free PMC article.
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Mobile element insertion detection in 89,874 clinical exomes.
Torene RI, Galens K, Liu S, Arvai K, Borroto C, Scuffins J, Zhang Z, Friedman B, Sroka H, Heeley J, Beaver E, Clarke L, Neil S, Walia J, Hull D, Juusola J, Retterer K.
Torene RI, et al.
Genet Med. 2020 May;22(5):974-978. doi: 10.1038/s41436-020-0749-x. Epub 2020 Jan 22.
Genet Med. 2020.
PMID: 31965078
Free PMC article.
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De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.
Humbert J, Salian S, Makrythanasis P, Lemire G, Rousseau J, Ehresmann S, Garcia T, Alasiri R, Bottani A, Hanquinet S, Beaver E, Heeley J, Smith ACM, Berger SI, Antonarakis SE, Yang XJ, Côté J, Campeau PM.
Humbert J, et al.
Am J Hum Genet. 2020 Sep 3;107(3):564-574. doi: 10.1016/j.ajhg.2020.08.002. Epub 2020 Aug 20.
Am J Hum Genet. 2020.
PMID: 32822602
Free PMC article.
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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HG, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BM, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics; Brunner HG, Sutton VR, Lupski JR, Carvalho CMB.
White JJ, et al.
Am J Hum Genet. 2018 Jan 4;102(1):27-43. doi: 10.1016/j.ajhg.2017.10.002. Epub 2017 Dec 21.
Am J Hum Genet. 2018.
PMID: 29276006
Free PMC article.
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Further delineation of putative ACTB loss-of-function variants: A 4-patient series.
Baumann M, Beaver EM, Palomares-Bralo M, Santos-Simarro F, Holzer P, Povysil G, Müller T, Valovka T, Janecke AR.
Baumann M, et al. Among authors: beaver em.
Hum Mutat. 2020 Apr;41(4):753-758. doi: 10.1002/humu.23970. Epub 2020 Jan 16.
Hum Mutat. 2020.
PMID: 31898838
Free PMC article.
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S-Cone Photoreceptors Regulate Daily Rhythms and Light-Induced Arousal/Wakefulness in Diurnal Grass Rats (Arvicanthis niloticus).
Kim AB, Beaver EM, Collins SG, Kriegsfeld LJ, Lockley SW, Wong KY, Yan L.
Kim AB, et al. Among authors: beaver em.
J Biol Rhythms. 2023 Aug;38(4):366-378. doi: 10.1177/07487304231170068. Epub 2023 May 24.
J Biol Rhythms. 2023.
PMID: 37222434
Free PMC article.
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