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104 results

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Page 1
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.
Morton SU, Costain G, French CE, Wakeling E, Szuto A, Christodoulou J, Cohn R, Darras BT, Wojcik MH, D'Gama AM, Dowling JJ, Lunke S, Muntoni F, Raymond L, Rowitch D, Beggs AH, Stark Z, Agrawal PB. Morton SU, et al. Among authors: wojcik mh. Neurology. 2025 Jan 14;104(1):e210106. doi: 10.1212/WNL.0000000000210106. Epub 2024 Dec 19. Neurology. 2025. PMID: 39700446
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.
French CE, Andrews NC, Beggs AH, Boone PM, Brownstein CA, Chopra M, Chou J, Chung WK, D'Gama AM, Doan RN, Ebrahimi-Fakhari D, Goldstein RD, Irons M, Jacobsen C, Kenna M, Lee T, Madden JA, Majmundar AJ, Mann N, Morton SU, Poduri A, Randolph AG, Roberts AE, Roberts S, Sampson MG, Shao DD, Shao W, Sharma A, Shearer E, Shimamura A, Snapper SB, Srivastava S, Thiagarajah JR, Whitman MC, Wojcik MH, Rockowitz S, Sliz P. French CE, et al. Among authors: wojcik mh. NPJ Genom Med. 2024 Dec 2;9(1):60. doi: 10.1038/s41525-024-00441-9. NPJ Genom Med. 2024. PMID: 39622807 Free PMC article.
A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.
Borroto MC, Michaud C, Hudon C, Agrawal PB, Agre K, Applegate CD, Beggs AH, Bjornsson HT, Callewaert B, Chen MJ, Curry C, Devinsky O, Dudding-Byth T, Fagan K, Finnila CR, Gavrilova R, Genetti CA, Hiatt SM, Hildebrandt F, Wojcik MH, Kleefstra T, Kolvenbach CM, Korf BR, Kruszka P, Li H, Litwin J, Marcadier J, Platzer K, Blackburn PR, Reijnders MRF, Reutter H, Schanze I, Shieh JT, Stevens CA, Valivullah Z, van den Boogaard MJ, Klee EW, Campeau PM. Borroto MC, et al. Among authors: wojcik mh. Genes (Basel). 2024 Aug 6;15(8):1033. doi: 10.3390/genes15081033. Genes (Basel). 2024. PMID: 39202393 Free PMC article.
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. 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.
104 results