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2015 1
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63 results

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Page 1
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel CF, Lerner-Ellis J, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann APA, van der Schoot V, Brunet T, Bußmann C, Mignot C, Zampino G, Wortmann SB, Mayr JA, Feichtinger RG, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T. Blackburn PR, et al. Among authors: mighton c. Ann Neurol. 2024 Sep 20:10.1002/ana.27077. doi: 10.1002/ana.27077. Online ahead of print. Ann Neurol. 2024. PMID: 39301775
GREGoR: accelerating genomics for rare diseases.
Dawood M, Heavner B, Wheeler MM, Ungar RA, LoTempio J, Wiel L, Berger S, Bernstein JA, Chong JX, Délot EC, Eichler EE, Lupski JR, Shojaie A, Talkowski ME, Wagner AH, Wei CL, Wellington C, Wheeler MT; GREGoR Partner Members; Carvalho CMB, Gibbs RA, Gifford CA, May S, Miller DE, Rehm HL, Samocha KE, Sedlazeck FJ, Vilain E, O'Donnell-Luria A, Posey JE, Chadwick LH, Bamshad MJ, Montgomery SB; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium. Dawood M, et al. Nature. 2025 Nov;647(8089):331-342. doi: 10.1038/s41586-025-09613-8. Epub 2025 Nov 12. Nature. 2025. PMID: 41224980
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Claus LR, Chen C, Stallworth J, Turner JL, Slaats GG, Hawks AL, Mabillard H, Senum SR, Srikanth S, Flanagan-Steet H, Louie RJ, Silver J, Lerner-Ellis J, Morel C, Mighton C, Sleutels F, van Slegtenhorst M, van Ham T, Brooks AS, Dorresteijn EM, Barakat TS, Dahan K, Demoulin N, Goffin EJ, Olinger E; Genomics England Research Consortium; Larsen M, Hertz JM, Lilien MR, Obeidová L, Seeman T, Stone HK, Kerecuk L, Gurgu M, Yousef Yengej FA, Ammerlaan CME, Rookmaaker MB, Hanna C, Rogers RC, Duran K, Peters E, Sayer JA, van Haaften G, Harris PC, Ling K, Mason JM, van Eerde AM, Steet R. Claus LR, et al. Among authors: mighton c. Kidney Int. 2023 Nov;104(5):995-1007. doi: 10.1016/j.kint.2023.07.021. Epub 2023 Aug 19. Kidney Int. 2023. PMID: 37598857 Free PMC article.
Clinical Utility of Genomic Sequencing for Hereditary Cancer Syndromes: An Observational Cohort Study.
Shickh S, Mighton C, Clausen M, Sam J, Hirjikaka D, Reble E, Graham T, Panchal S, Eisen A, Elser C, Schrader KA, Baxter NN, Laupacis A, Lerner-Ellis J, Kim RH, Bombard Y; Incidental Genomics Study Team. Shickh S, et al. Among authors: mighton c. JCO Precis Oncol. 2024 Dec;8:e2400407. doi: 10.1200/PO-24-00407. Epub 2024 Dec 12. JCO Precis Oncol. 2024. PMID: 39666930
Addressing the challenges of polygenic scores in human genetic research.
Novembre J, Stein C, Asgari S, Gonzaga-Jauregui C, Landstrom A, Lemke A, Li J, Mighton C, Taylor M, Tishkoff S. Novembre J, et al. Among authors: mighton c. Am J Hum Genet. 2022 Dec 1;109(12):2095-2100. doi: 10.1016/j.ajhg.2022.10.012. Am J Hum Genet. 2022. PMID: 36459976 Free PMC article. Review.
"Should I Let Them Know I Have This?": Multifaceted Genetic Discrimination and Limited Awareness of Legal Protections among Individuals with Hereditary Cancer Syndromes.
Gopalakrishnan R, Sam J, Butkowsky C, Reble E, Clausen M, Rajeziesfahani S, Sparkes B, Aguda V, Aronson M, Bishop D, Dawson L, Eisen A, Graham T, Green J, Mighton C, Pauling J, Pavao C, Pechlivanoglou P, Remocker C, Savas S, Sun S, Tiano T, Tilley A, Schrader K, Etchegary H, Bombard Y. Gopalakrishnan R, et al. Among authors: mighton c. Public Health Genomics. 2024;27(1):240-254. doi: 10.1159/000542210. Epub 2024 Oct 24. Public Health Genomics. 2024. PMID: 39447549 Free article.
A model for the return and referral of all clinically significant secondary findings of genomic sequencing.
Kodida R, Reble E, Clausen M, Shickh S, Mighton C, Sam J, Forster N, Panchal S, Aronson M, Semotiuk K, Graham T, Silberman Y, Randall Armel S, McCuaig JM, Cohn I, Morel CF, Elser C, Eisen A, Carroll JC, Glogowski E, Schrader KA, Di Gioacchino V, Lerner-Ellis J, Kim RH, Bombard Y; Incidental Genomics Study Team. Kodida R, et al. Among authors: mighton c. J Med Genet. 2023 Aug;60(8):733-739. doi: 10.1136/jmg-2022-109091. Epub 2023 May 22. J Med Genet. 2023. PMID: 37217257 Review.
63 results