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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2008 1
2009 1
2010 2
2011 1
2013 3
2014 1
2015 1
2016 1
2017 1
2018 3
2019 4
2020 2
2021 2
2022 2
2024 0

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20 results

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Page 1
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Tudini E, Andrews J, Lawrence DM, King-Smith SL, Baker N, Baxter L, Beilby J, Bennetts B, Beshay V, Black M, Boughtwood TF, Brion K, Cheong PL, Christie M, Christodoulou J, Chong B, Cox K, Davis MR, Dejong L, Dinger ME, Doig KD, Douglas E, Dubowsky A, Ellul M, Fellowes A, Fisk K, Fortuno C, Friend K, Gallagher RL, Gao S, Hackett E, Hadler J, Hipwell M, Ho G, Hollway G, Hooper AJ, Kassahn KS, Krishnaraj R, Lau C, Le H, San Leong H, Lundie B, Lunke S, Marty A, McPhillips M, Nguyen LT, Nones K, Palmer K, Pearson JV, Quinn MCJ, Rawlings LH, Sadedin S, Sanchez L, Schreiber AW, Sigalas E, Simsek A, Soubrier J, Stark Z, Thompson BA, U J, Vakulin CG, Wells AV, Wise CA, Woods R, Ziolkowski A, Brion MJ, Scott HS, Thorne NP, Spurdle AB; Shariant Consortium. Tudini E, et al. Am J Hum Genet. 2022 Nov 3;109(11):1960-1973. doi: 10.1016/j.ajhg.2022.10.006. Am J Hum Genet. 2022. PMID: 36332611 Free PMC article. Review.
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
Tan NB, Stapleton R, Stark Z, Delatycki MB, Yeung A, Hunter MF, Amor DJ, Brown NJ, Stutterd CA, McGillivray G, Yap P, Regan M, Chong B, Fanjul Fernandez M, Marum J, Phelan D, Pais LS, White SM, Lunke S, Tan TY. Tan NB, et al. Among authors: fanjul fernandez m. Mol Genet Genomic Med. 2020 Nov;8(11):e1508. doi: 10.1002/mgg3.1508. Epub 2020 Sep 23. Mol Genet Genomic Med. 2020. PMID: 32969205 Free PMC article. Review.
A family study implicates GBE1 in the etiology of autism spectrum disorder.
Fanjul-Fernández M, Brown NJ, Hickey P, Diakumis P, Rafehi H, Bozaoglu K, Green CC, Rattray A, Young S, Alhuzaimi D, Mountford HS, Gillies G, Lukic V, Vick T, Finlay K, Coe BP, Eichler EE, Delatycki MB, Wilson SJ, Bahlo M, Scheffer IE, Lockhart PJ. Fanjul-Fernández M, et al. Hum Mutat. 2022 Jan;43(1):16-29. doi: 10.1002/humu.24289. Epub 2021 Oct 21. Hum Mutat. 2022. PMID: 34633740 Free PMC article.
Cerebral hypomyelination associated with biallelic variants of FIG4.
Lenk GM, Berry IR, Stutterd CA, Blyth M, Green L, Vadlamani G, Warren D, Craven I, Fanjul-Fernandez M, Rodriguez-Casero V, Lockhart PJ, Vanderver A, Simons C, Gibb S, Sadedin S; Broad Center for Mendelian Genomics; White SM, Christodoulou J, Skibina O, Ruddle J, Tan TY, Leventer RJ, Livingston JH, Meisler MH. Lenk GM, et al. Among authors: fanjul fernandez m. Hum Mutat. 2019 May;40(5):619-630. doi: 10.1002/humu.23720. Epub 2019 Feb 28. Hum Mutat. 2019. PMID: 30740813 Free PMC article.
Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing.
Stutterd CA, Brock S, Stouffs K, Fanjul-Fernandez M, Lockhart PJ, McGillivray G, Mandelstam S, Pope K, Delatycki MB, Jansen A, Leventer RJ. Stutterd CA, et al. Among authors: fanjul fernandez m. Brain Commun. 2020 Dec 26;3(1):fcaa221. doi: 10.1093/braincomms/fcaa221. eCollection 2021. Brain Commun. 2020. PMID: 33604570 Free PMC article.
Matrix metalloprotease 1a deficiency suppresses tumor growth and angiogenesis.
Foley CJ, Fanjul-Fernández M, Bohm A, Nguyen N, Agarwal A, Austin K, Koukos G, Covic L, López-Otín C, Kuliopulos A. Foley CJ, et al. Among authors: fanjul fernandez m. Oncogene. 2014 Apr 24;33(17):2264-72. doi: 10.1038/onc.2013.157. Epub 2013 May 27. Oncogene. 2014. PMID: 23708660 Free PMC article.
Collagenase-2 deficiency or inhibition impairs experimental autoimmune encephalomyelitis in mice.
Folgueras AR, Fueyo A, García-Suárez O, Cox J, Astudillo A, Tortorella P, Campestre C, Gutiérrez-Fernández A, Fanjul-Fernández M, Pennington CJ, Edwards DR, Overall CM, López-Otín C. Folgueras AR, et al. Among authors: fanjul fernandez m. J Biol Chem. 2018 Jul 27;293(30):11968-11969. doi: 10.1074/jbc.AAC118.004703. J Biol Chem. 2018. PMID: 30054293 Free PMC article. No abstract available.
Meeting the challenges of implementing rapid genomic testing in acute pediatric care.
Stark Z, Lunke S, Brett GR, Tan NB, Stapleton R, Kumble S, Yeung A, Phelan DG, Chong B, Fanjul-Fernandez M, Marum JE, Hunter M, Jarmolowicz A, Prawer Y, Riseley JR, Regan M, Elliott J, Martyn M, Best S, Tan TY, Gaff CL, White SM; Melbourne Genomics Health Alliance. Stark Z, et al. Among authors: fanjul fernandez m. Genet Med. 2018 Dec;20(12):1554-1563. doi: 10.1038/gim.2018.37. Epub 2018 Mar 15. Genet Med. 2018. PMID: 29543227 Free article.
20 results