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Global implementation of genomic medicine: We are not alone.
Manolio TA, Abramowicz M, Al-Mulla F, Anderson W, Balling R, Berger AC, Bleyl S, Chakravarti A, Chantratita W, Chisholm RL, Dissanayake VH, Dunn M, Dzau VJ, Han BG, Hubbard T, Kolbe A, Korf B, Kubo M, Lasko P, Leego E, Mahasirimongkol S, Majumdar PP, Matthijs G, McLeod HL, Metspalu A, Meulien P, Miyano S, Naparstek Y, O'Rourke PP, Patrinos GP, Rehm HL, Relling MV, Rennert G, Rodriguez LL, Roden DM, Shuldiner AR, Sinha S, Tan P, Ulfendahl M, Ward R, Williams MS, Wong JE, Green ED, Ginsburg GS. Manolio TA, et al. Among authors: abramowicz m. Sci Transl Med. 2015 Jun 3;7(290):290ps13. doi: 10.1126/scitranslmed.aab0194. Sci Transl Med. 2015. PMID: 26041702 Free PMC article. Review.
The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review.
Kumuthini J, Zick B, Balasopoulou A, Chalikiopoulou C, Dandara C, El-Kamah G, Findley L, Katsila T, Li R, Maceda EB, Monye H, Rada G, Thong MK, Wanigasekera T, Kennel H, Marimuthu V; G2MC Evidence investigators; Williams MS, Al-Mulla F, Abramowicz M. Kumuthini J, et al. Among authors: abramowicz m. Hum Genet. 2022 Nov;141(11):1697-1704. doi: 10.1007/s00439-022-02452-x. Epub 2022 Apr 30. Hum Genet. 2022. PMID: 35488921 Free PMC article. Review.
Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32.
Jamieson CR, Fryns JP, Jacobs J, Matthijs G, Abramowicz MJ. Jamieson CR, et al. Among authors: abramowicz mj. Am J Hum Genet. 2000 Dec;67(6):1575-7. doi: 10.1086/316909. Epub 2000 Nov 6. Am J Hum Genet. 2000. PMID: 11067780 Free PMC article.
Autosomal recessive primary microcephaly due to ASPM mutations: An update.
Létard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, Arpin S, Bertoli M, Busa T, Ceulemans B, Desir J, Doco-Fenzy M, Elalaoui SC, Devriendt K, Faivre L, Francannet C, Geneviève D, Gérard M, Gitiaux C, Julia S, Lebon S, Lubala T, Mathieu-Dramard M, Maurey H, Metreau J, Nasserereddine S, Nizon M, Pierquin G, Pouvreau N, Rivier-Ringenbach C, Rossi M, Schaefer E, Sefiani A, Sigaudy S, Sznajer Y, Tunca Y, Guilmin Crepon S, Alberti C, Elmaleh-Bergès M, Benzacken B, Wollnick B, Woods CG, Rauch A, Abramowicz M, El Ghouzzi V, Gressens P, Verloes A, Passemard S. Létard P, et al. Among authors: abramowicz m. Hum Mutat. 2018 Mar;39(3):319-332. doi: 10.1002/humu.23381. Epub 2018 Jan 16. Hum Mutat. 2018. PMID: 29243349 Free article.
255 results