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Prenatal diagnostic indicators of paternal uniparental disomy 14.
Curtis L, Antonelli E, Vial Y, Rimensberger P, Le Merrer M, Hinard C, Bottani A, Fokstuen S. Curtis L, et al. Among authors: bottani a. Prenat Diagn. 2006 Aug;26(8):662-6. doi: 10.1002/pd.1453. Prenat Diagn. 2006. PMID: 16715538
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
Makrythanasis P, Nelis M, Santoni FA, Guipponi M, Vannier A, Béna F, Gimelli S, Stathaki E, Temtamy S, Mégarbané A, Masri A, Aglan MS, Zaki MS, Bottani A, Fokstuen S, Gwanmesia L, Aliferis K, Bustamante Eduardo M, Stamoulis G, Psoni S, Kitsiou-Tzeli S, Fryssira H, Kanavakis E, Al-Allawi N, Sefiani A, Al Hait S, Elalaoui SC, Jalkh N, Al-Gazali L, Al-Jasmi F, Bouhamed HC, Abdalla E, Cooper DN, Hamamy H, Antonarakis SE. Makrythanasis P, et al. Among authors: bottani a. Hum Mutat. 2014 Oct;35(10):1203-10. doi: 10.1002/humu.22617. Epub 2014 Aug 18. Hum Mutat. 2014. PMID: 25044680
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report.
Hamamy H, Antonarakis SE, Cavalli-Sforza LL, Temtamy S, Romeo G, Kate LP, Bennett RL, Shaw A, Megarbane A, van Duijn C, Bathija H, Fokstuen S, Engel E, Zlotogora J, Dermitzakis E, Bottani A, Dahoun S, Morris MA, Arsenault S, Aglan MS, Ajaz M, Alkalamchi A, Alnaqeb D, Alwasiyah MK, Anwer N, Awwad R, Bonnefin M, Corry P, Gwanmesia L, Karbani GA, Mostafavi M, Pippucci T, Ranza-Boscardin E, Reversade B, Sharif SM, Teeuw ME, Bittles AH. Hamamy H, et al. Among authors: bottani a. Genet Med. 2011 Sep;13(9):841-7. doi: 10.1097/GIM.0b013e318217477f. Genet Med. 2011. PMID: 21555946 Free article.
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.
Fokstuen S, Makrythanasis P, Hammar E, Guipponi M, Ranza E, Varvagiannis K, Santoni FA, Albarca-Aguilera M, Poleggi ME, Couchepin F, Brockmann C, Mauron A, Hurst SA, Moret C, Gehrig C, Vannier A, Bevillard J, Araud T, Gimelli S, Stathaki E, Paoloni-Giacobino A, Bottani A, Sloan-Béna F, Sizonenko LD, Mostafavi M, Hamamy H, Nouspikel T, Blouin JL, Antonarakis SE. Fokstuen S, et al. Among authors: bottani a. Hum Genomics. 2016 Jun 28;10(1):24. doi: 10.1186/s40246-016-0080-4. Hum Genomics. 2016. PMID: 27353043 Free PMC article. Review.
98 results