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Diagnostic Utility of Exome Sequencing for Kidney Disease.
N Engl J Med. 2019 Jan 10;380(2):142-151. doi: 10.1056/NEJMoa1806891. Epub 2018 Dec 26.
N Engl J Med. 2019.
PMID: 30586318
Free PMC article.
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
Petrovski S, Aggarwal V, Giordano JL, Stosic M, Wou K, Bier L, Spiegel E, Brennan K, Stong N, Jobanputra V, Ren Z, Zhu X, Mebane C, Nahum O, Wang Q, Kamalakaran S, Malone C, Anyane-Yeboa K, Miller R, Levy B, Goldstein DB, Wapner RJ.
Petrovski S, et al.
Lancet. 2019 Feb 23;393(10173):758-767. doi: 10.1016/S0140-6736(18)32042-7. Epub 2019 Jan 31.
Lancet. 2019.
PMID: 30712878
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An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.
Petrovski S, Todd JL, Durheim MT, Wang Q, Chien JW, Kelly FL, Frankel C, Mebane CM, Ren Z, Bridgers J, Urban TJ, Malone CD, Finlen Copeland A, Brinkley C, Allen AS, O'Riordan T, McHutchison JG, Palmer SM, Goldstein DB.
Petrovski S, et al. Among authors: mebane cm.
Am J Respir Crit Care Med. 2017 Jul 1;196(1):82-93. doi: 10.1164/rccm.201610-2088OC.
Am J Respir Crit Care Med. 2017.
PMID: 28099038
Free PMC article.
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Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study.
Koko M, Motelow JE, Stanley KE, Bobbili DR, Dhindsa RS, May P; Canadian Epilepsy Network; Epi4K Consortium; Epilepsy Phenome/Genome Project; EpiPGX Consortium; EuroEPINOMICS-CoGIE Consortium.
Koko M, et al.
Epilepsia. 2022 Mar;63(3):723-735. doi: 10.1111/epi.17166. Epub 2022 Jan 15.
Epilepsia. 2022.
PMID: 35032048
Free PMC article.
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Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.
Epi4K consortium; Epilepsy Phenome/Genome Project.
Epi4K consortium, et al.
Lancet Neurol. 2017 Feb;16(2):135-143. doi: 10.1016/S1474-4422(16)30359-3.
Lancet Neurol. 2017.
PMID: 28102150
Free article.
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Clinical and genomic characterization of 8p cytogenomic disorders.
Okur V, Hamm L, Kavus H, Mebane C, Robinson S, Levy B, Chung WK.
Okur V, et al.
Genet Med. 2021 Dec;23(12):2342-2351. doi: 10.1038/s41436-021-01270-2. Epub 2021 Jul 19.
Genet Med. 2021.
PMID: 34282301
Free article.
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Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder.
Boyle L, Rao L, Kaur S, Fan X, Mebane C, Hamm L, Thornton A, Ahrendsen JT, Anderson MP, Christodoulou J, Gennerich A, Shen Y, Chung WK.
Boyle L, et al.
HGG Adv. 2021 Apr 8;2(2):100026. doi: 10.1016/j.xhgg.2021.100026. Epub 2021 Jan 30.
HGG Adv. 2021.
PMID: 33880452
Free PMC article.
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Availability of Services and Caregiver Burden: Supporting Individuals With Neurogenetic Conditions During the COVID-19 Pandemic.
Kowanda M, Cartner L, Kentros C, Geltzeiler AR, Singer KE, Weaver WC, Lehman CD, Smith S, Smith RS, Walsh LK, Diehl K, Nagpal N, Brooks E, Mebane CM, Wilson AL, Marvin AR, White LC, Law JK, Jensen W, Daniels AM, Tjernagel J, Snyder LG, Taylor CM, Chung WK.
Kowanda M, et al. Among authors: mebane cm.
J Child Neurol. 2021 Aug;36(9):760-767. doi: 10.1177/08830738211001209. Epub 2021 Apr 8.
J Child Neurol. 2021.
PMID: 33829918
Free PMC article.
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