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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
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.
Morton SU, Christodoulou J, Costain G, Muntoni F, Wakeling E, Wojcik MH, French CE, Szuto A, Dowling JJ, Cohn RD, Raymond FL, Darras BT, Williams DA, Lunke S, Stark Z, Rowitch DH, Agrawal PB. Morton SU, et al. Among authors: wojcik mh. JAMA Neurol. 2022 Apr 1;79(4):405-413. doi: 10.1001/jamaneurol.2022.0067. JAMA Neurol. 2022. PMID: 35254387 Free PMC article. Review.
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.
Schmitz-Abe K, Li Q, Rosen SM, Nori N, Madden JA, Genetti CA, Wojcik MH, Ponnaluri S, Gubbels CS, Picker JD, O'Donnell-Luria AH, Yu TW, Bodamer O, Brownstein CA, Beggs AH, Agrawal PB. Schmitz-Abe K, et al. Among authors: wojcik mh. Eur J Hum Genet. 2019 Sep;27(9):1398-1405. doi: 10.1038/s41431-019-0401-x. Epub 2019 Apr 12. Eur J Hum Genet. 2019. PMID: 30979967 Free PMC article.
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Gubbels CS, VanNoy GE, Madden JA, Copenheaver D, Yang S, Wojcik MH, Gold NB, Genetti CA, Stoler J, Parad RB, Roumiantsev S, Bodamer O, Beggs AH, Juusola J, Agrawal PB, Yu TW. Gubbels CS, et al. Among authors: wojcik mh. Genet Med. 2020 Apr;22(4):736-744. doi: 10.1038/s41436-019-0708-6. Epub 2019 Nov 29. Genet Med. 2020. PMID: 31780822 Free PMC article.
Genetic diagnosis in the fetus.
Wojcik MH, Reimers R, Poorvu T, Agrawal PB. Wojcik MH, et al. J Perinatol. 2020 Jul;40(7):997-1006. doi: 10.1038/s41372-020-0627-z. Epub 2020 Feb 24. J Perinatol. 2020. PMID: 32094481 Free PMC article. Review.
Deciphering congenital anomalies for the next generation.
Wojcik MH, Agrawal PB. Wojcik MH, et al. Cold Spring Harb Mol Case Stud. 2020 Oct 7;6(5):a005504. doi: 10.1101/mcs.a005504. Print 2020 Oct. Cold Spring Harb Mol Case Stud. 2020. PMID: 32826208 Free PMC article. Review.
Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.
D'Gama AM, England E, Madden JA, Shi J, Chao KR, Wojcik MH, Torres AR, Tan WH, Berry GT, Prabhu SP, Agrawal PB. D'Gama AM, et al. Among authors: wojcik mh. Am J Med Genet A. 2021 Jan;185(1):203-207. doi: 10.1002/ajmg.a.61910. Epub 2020 Oct 9. Am J Med Genet A. 2021. PMID: 33037779 Free PMC article.
Monogenic variants in dystonia: an exome-wide sequencing study.
Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Bauman… See abstract for full author list ➔ Zech M, et al. Among authors: wojcik mh. Lancet Neurol. 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. Lancet Neurol. 2020. PMID: 33098801 Free PMC article.
106 results