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DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis.
Starokadomskyy P, Gemelli T, Rios JJ, Xing C, Wang RC, Li H, Pokatayev V, Dozmorov I, Khan S, Miyata N, Fraile G, Raj P, Xu Z, Xu Z, Ma L, Lin Z, Wang H, Yang Y, Ben-Amitai D, Orenstein N, Mussaffi H, Baselga E, Tadini G, Grunebaum E, Sarajlija A, Krzewski K, Wakeland EK, Yan N, de la Morena MT, Zinn AR, Burstein E. Starokadomskyy P, et al. Among authors: mussaffi h. Nat Immunol. 2016 May;17(5):495-504. doi: 10.1038/ni.3409. Epub 2016 Mar 28. Nat Immunol. 2016. PMID: 27019227 Free PMC article.
The Q359K/T360K mutation causes cystic fibrosis in Georgian Jews.
Mei-Zahav M, Stafler P, Senderowitz H, Bentur L, Livnat G, Shteinberg M, Orenstein N, Bazak L, Prais D, Levine H, Gur M, Khazanov N, Simhaev L, Eliyahu H, Cohen M, Wilschanski M, Blau H, Mussaffi H. Mei-Zahav M, et al. Among authors: mussaffi h. J Cyst Fibros. 2018 Sep;17(5):e41-e45. doi: 10.1016/j.jcf.2018.06.008. Epub 2018 Jul 20. J Cyst Fibros. 2018. PMID: 30033373 Free article.
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
Dougherty GW, Mizuno K, Nöthe-Menchen T, Ikawa Y, Boldt K, Ta-Shma A, Aprea I, Minegishi K, Pang YP, Pennekamp P, Loges NT, Raidt J, Hjeij R, Wallmeier J, Mussaffi H, Perles Z, Elpeleg O, Rabert F, Shiratori H, Letteboer SJ, Horn N, Young S, Strünker T, Stumme F, Werner C, Olbrich H, Takaoka K, Ide T, Twan WK, Biebach L, Große-Onnebrink J, Klinkenbusch JA, Praveen K, Bracht DC, Höben IM, Junger K, Gützlaff J, Cindrić S, Aviram M, Kaiser T, Memari Y, Dzeja PP, Dworniczak B, Ueffing M, Roepman R, Bartscherer K, Katsanis N, Davis EE, Amirav I, Hamada H, Omran H. Dougherty GW, et al. Among authors: mussaffi h. Nat Commun. 2020 Nov 2;11(1):5520. doi: 10.1038/s41467-020-19113-0. Nat Commun. 2020. PMID: 33139725 Free PMC article.
The impact of a national population carrier screening program on cystic fibrosis birth rate and age at diagnosis: Implications for newborn screening.
Stafler P, Mei-Zahav M, Wilschanski M, Mussaffi H, Efrati O, Lavie M, Shoseyov D, Cohen-Cymberknoh M, Gur M, Bentur L, Livnat G, Aviram M, Alkrinawi S, Picard E, Prais D, Steuer G, Inbar O, Kerem E, Blau H. Stafler P, et al. Among authors: mussaffi h. J Cyst Fibros. 2016 Jul;15(4):460-6. doi: 10.1016/j.jcf.2015.08.007. Epub 2015 Sep 16. J Cyst Fibros. 2016. PMID: 26386752 Free article.
Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.
Behar DM, Inbar O, Shteinberg M, Gur M, Mussaffi H, Shoseyov D, Ashkenazi M, Alkrinawi S, Bormans C, Hakim F, Mei-Zahav M, Cohen-Cymberknoh M, Dagan A, Prais D, Sarouk I, Stafler P, Bar Aluma BE, Akler G, Picard E, Aviram M, Efrati O, Livnat G, Rivlin J, Bentur L, Blau H, Kerem E, Singer A. Behar DM, et al. Among authors: mussaffi h. Mol Genet Genomic Med. 2017 Feb 19;5(3):223-236. doi: 10.1002/mgg3.278. eCollection 2017 May. Mol Genet Genomic Med. 2017. PMID: 28546993 Free PMC article.
Selected abstracts.
Mussaffi H, Greif J, Kornreich L, Ashkenazi S, Levy Y, Schonfeld T, Blau H. Mussaffi H, et al. Pediatr Pulmonol. 2000 Feb;29(2):160-3. Pediatr Pulmonol. 2000. PMID: 10639208 No abstract available.
Urogenital abnormalities in male children with cystic fibrosis.
Blau H, Freud E, Mussaffi H, Werner M, Konen O, Rathaus V. Blau H, et al. Among authors: mussaffi h. Arch Dis Child. 2002 Aug;87(2):135-8. doi: 10.1136/adc.87.2.135. Arch Dis Child. 2002. PMID: 12138064 Free PMC article.
74 results