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Page 1
Did you mean ozaki m[au] (1,741 results)?
Genome Sequencing for Diagnosing Rare Diseases.
Wojcik MH, Lemire G, Berger E, Zaki MS, Wissmann M, Win W, White SM, Weisburd B, Wieczorek D, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Syrbe S, Strehlow V, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Radtke M, Popp D, Polster T, Platzer K, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Opperman H, Okur V, Oja KT, O'Leary M, O'Heir E, Morel CF, Merkenschlager A, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Hentschel J, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gburek-Augustat J, Gazda HT, Ganesh VS, Ganapathi M, Gallacher L, Fu JM, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bönnemann CG, Beggs AH, Baxter SM, Bartolomaeus T, Agrawal PB, Talkowski M, Austin-Tse C, Abou Jamra R, Rehm HL, O'Donnell-Luria A. Wojcik MH, et al. Among authors: zaki ms. N Engl J Med. 2024 Jun 6;390(21):1985-1997. doi: 10.1056/NEJMoa2314761. N Engl J Med. 2024. PMID: 38838312 Free PMC article.
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA; Spina Bifida Sequencing Consortium‡; Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG. Vong KI, et al. Among authors: zaki ms. Science. 2024 May 3;384(6695):584-590. doi: 10.1126/science.adl1624. Epub 2024 May 2. Science. 2024. PMID: 38696583 Free PMC article.
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, Cook E, Alvi JR, Elbendary HM, Jewell JL, Riva A, Orsini A, Vignoli A, Federico Z, Rosenblum J, Schoonjans AS, de Wachter M, Delgado Alvarez I, Felipe-Rucián A, Haridy NA, Haider S, Zaman M, Banu S, Anwaar N, Rahman F, Maqbool S, Yadav R, Salpietro V, Maroofian R, Patel R, Radhakrishnan R, Prabhu SP, Lichtenbelt K, Stewart H, Murakami Y, Löbel U, D'Arco F, Wakeling E, Jones W, Hay E, Bhate S, Jacques TS, Mirsky DM, Whitehead MT, Zaki MS, Sultan T, Striano P, Jansen AC, Lequin M, de Vries LS, Severino M, Edmondson AC, Menzies L, Campeau PM, Houlden H, McTague A, Efthymiou S, Mankad K. Sidpra J, et al. Among authors: zaki ms. Brain. 2024 Aug 1;147(8):2775-2790. doi: 10.1093/brain/awae056. Brain. 2024. PMID: 38456468 Free PMC article.
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Liu Z, Xin B, Smith IN, Sency V, Szekely J, Alkelai A, Shuldiner A, Efthymiou S, Rajabi F, Coury S, Brownstein CA, Rudnik-Schöneborn S, Bruel AL, Thevenon J, Zeidler S, Jayakar P, Schmidt A, Cremer K, Engels H, Peters SO, Zaki MS, Duan R, Zhu C, Xu Y, Gao C, Sepulveda-Morales T, Maroofian R, Alkhawaja IA, Khawaja M, Alhalasah H, Houlden H, Madden JA, Turchetti V, Marafi D, Agrawal PB, Schatz U, Rotenberg A, Rotenberg J, Mancini GMS, Bakhtiari S, Kruer M, Thiffault I, Hirsch S, Hempel M, Stühn LG, Haack TB, Posey JE, Lupski JR, Lee H, Sarn NB, Eng C, Gonzaga-Jauregui C, Zhang B, Wang H. Liu Z, et al. Among authors: zaki ms. Hum Mol Genet. 2023 Oct 4;32(20):2981-2995. doi: 10.1093/hmg/ddad124. Hum Mol Genet. 2023. PMID: 37531237 Free PMC article.
The contribution of de novo coding mutations to meningomyelocele.
Ha YJ, Nisal A, Tang I, Lee C, Jhamb I, Wallace C, Howarth R, Schroeder S, Vong KI, Meave N, Jiwani F, Barrows C, Lee S, Jiang N, Patel A, Bagga K, Banka N, Friedman L, Blanco FA, Yu S, Rhee S, Jeong HS, Plutzer I, Major MB, Benoit B, Poüs C, Heffner C, Kibar Z, Bot GM, Northrup H, Au KS, Strain M, Ashley-Koch AE, Finnell RH, Le JT, Meltzer HS, Araujo C, Machado HR, Stevenson RE, Yurrita A, Mumtaz S, Ahmed A, Khara MH, Mutchinick OM, Medina-Bereciartu JR, Hildebrandt F, Melikishvili G, Marwan AI, Capra V, Noureldeen MM, Salem AMS, Issa MY, Zaki MS, Xu L, Lee JE, Shin D, Alkelai A, Shuldiner AR, Kingsmore SF, Murray SA, Gee HY, Miller WT, Tolias KF, Wallingford JB; Spina Bifida Sequencing Consortium; Kim S, Gleeson JG. Ha YJ, et al. Among authors: zaki ms. Nature. 2025 May;641(8062):419-426. doi: 10.1038/s41586-025-08676-x. Epub 2025 Mar 26. Nature. 2025. PMID: 40140573 Free PMC article.
Genomics of rare diseases in the Greater Middle East.
Chekroun I, Shenbagam S, Almarri MA, Mokrab Y, Uddin M, Alkhnbashi OS, Zaki MS, Najmabadi H, Kahrizi K, Fakhro KA, Almontashiri NAM, Ali FR, Özbek U, Reversade B, Alkuraya FS, Alsheikh-Ali A, Abou Tayoun AN. Chekroun I, et al. Among authors: zaki ms. Nat Genet. 2025 Mar;57(3):505-514. doi: 10.1038/s41588-025-02075-8. Epub 2025 Feb 3. Nat Genet. 2025. PMID: 39901015 Review.
Microbiota-based therapies in oral health and disorders.
Salah AN, Doghish YA, Abbass SO, Mansour RM, Sayed GA, Elshami NH, Mageed SSA, Mohammed OA, Abulsoud AI, Zaki MB, Mosalam EM, Elrebehy MA, Alfarsi K, Doghish AS. Salah AN, et al. Among authors: zaki mb. Folia Microbiol (Praha). 2025 Dec;70(6):1217-1240. doi: 10.1007/s12223-025-01324-x. Epub 2025 Oct 11. Folia Microbiol (Praha). 2025. PMID: 41076507 Free PMC article. Review.
A clinical and genotype-phenotype analysis of MACF1 variants.
Dekker J, Schot R, Aldinger KA, Everman DB, Washington C, Jones JR, Sullivan JA, Spillmann RC, Shashi V, Vitobello A, Denommé-Pichon AS, Mosca-Boidron AL, Perrin L, Auvin S, Zaki MS, Gleeson JG, Meave N, Wallace C, Nambot S, Delanne J, Ruggiero SM, Helbig I, Fitzgerald MP, Leventer RJ, Grange DK, Argilli E, Sherr EH, Prakash S, Neilson DE, Nicita F, Sferra A, Bertini ES, Aiello C, Brockmann K, Kuranov AB, Kaulfuss S, Basit S, Alluqmani M, Almatrafi A, Friedman JM, Guimond C, Mohammed F, Sharma P, Goel D, Wirth T, Anheim M, Bahena P, Koparir A, Kolokotronis K, Vona B, Haaf T, Kunstmann E, Maroofian R, Sczakiel HL, Boschann F, Misra-Isrie M, Louie RJ, Stolerman ES, Sanchez-Lara PA, Mergler S, Oegema R, Zarate YA, Kariminejad A, Tajsharghi H, Zeidler S, Kievit AJA, Bouman A, Cappuccio G, Brunetti-Pierri N, Stuurman KE, Swols DM, Tekin M, Upadia J, Martin DM, Craven D, Hiatt SM, van de Pol LA, D'Arco F, Margot H, Wilke M, Yousefi S, Barakat TS, van Veghel-Plandsoen MM, Aronica E, Anink J, Rogers SL, Slep KC, Doherty D, Dobyns WB, Mancini GMS. Dekker J, et al. Among authors: zaki ms. Am J Hum Genet. 2025 Oct 2;112(10):2363-2380. doi: 10.1016/j.ajhg.2025.08.010. Epub 2025 Sep 8. Am J Hum Genet. 2025. PMID: 40925378
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Leitão E, Santini A, Cogne B, Essid M, Athanasiadou M, LaFlamme CW, Marijon P, Bernard V, Chatron N, Barcia G, Keren B, Mignot C, Charles P, Besnard T, de Sainte Agathe JM, Fuerte EPA, Sengupta S, Milh M, Ramond F, Allan T, An I, Araujo C, Arpin S, Austin-Tse C, Auvin S, Baer S, Bahi-Buisson N, Bak M, Barth M, Baulac S, Weirauch NB, Begemann M, Bennett MF, Bensabath U, Bézieau S, Bhouri R, Biehler M, Hammer TB, Bogoin J, Bonanno E, Boussion S, Bramswig NC, Bris C, Brosseau-Beauvir A, Bruel AL, Buratti J, Chambon P, Chemaly N, Chesneau B, Colin E, Colmard M, Conrad S, Courtin T, Dang LT, de Saint Martin A, de Vanssay de Blavous Legendre C, Denommé-Pichon AS, DiTroia S, Doco-Fenzy M, Dubourg C, Dubucs C, Ducreux S, Dufour L, Duquet R, Durand B, Chehadeh SE, Elbracht M, Faivre L, Faoucher M, Faudet A, Forlani S, Fradin M, Gaignard P, Ganne B, Garde A, Géraud J, Gill D, Goldenberg A, Grabli D, Grisel C, Gueden S, Gueguen P, Guerrot AM, Guichet A, Härting N, Häusler MG, Heide S, Héron B, Héron D, Heulin M, Houdayer C, Isidor B, Jacquette A, Januel L, Jean-Marçais N, Jousselin K, Kaiser FJ, Kaya S, King C, Konyukh M, Kraft F, Krause J, Kirstetter R, Kuechler A, Kurth I, Labalme A, Laloy… See abstract for full author list ➔ Leitão E, et al. Among authors: zaki ms. medRxiv [Preprint]. 2025 Sep 4:2025.09.02.25334923. doi: 10.1101/2025.09.02.25334923. medRxiv. 2025. PMID: 40950445 Free PMC article. Preprint.
1,442 results