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Novel pregnancy-triggered episodes of CAPOS syndrome.
Chang IJ, Adam MP, Jayadev S, Bird TD, Natarajan N, Glass IA. Chang IJ, et al. Am J Med Genet A. 2018 Jan;176(1):235-240. doi: 10.1002/ajmg.a.38502. Epub 2017 Nov 1. Am J Med Genet A. 2018. PMID: 29090527 Free PMC article. Review.
COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.
Starr MC, Chang IJ, Finn LS, Sun A, Larson AA, Goebel J, Hanevold C, Thies J, Van Hove JLK, Hingorani SR, Lam C. Starr MC, et al. Among authors: chang ij. Pediatr Nephrol. 2018 Jul;33(7):1257-1261. doi: 10.1007/s00467-018-3937-z. Epub 2018 Apr 10. Pediatr Nephrol. 2018. PMID: 29637272 Free PMC article.
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia.
Oosterhof N, Chang IJ, Karimiani EG, Kuil LE, Jensen DM, Daza R, Young E, Astle L, van der Linde HC, Shivaram GM, Demmers J, Latimer CS, Keene CD, Loter E, Maroofian R, van Ham TJ, Hevner RF, Bennett JT. Oosterhof N, et al. Among authors: chang ij. Am J Hum Genet. 2019 May 2;104(5):936-947. doi: 10.1016/j.ajhg.2019.03.010. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982608 Free PMC article.
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
Wenger TL, Bly RA, Wu N, Albert CM, Park J, Shieh J, Chenbhanich J, Heike CL, Adam MP, Chang I, Sun A, Miller DE, Beck AE, Gupta D, Boos MD, Zackai EH, Everman D, Ganapathi S, Wilson M, Christodoulou J, Zarate YA, Curry C, Li D, Guimier A, Amiel J, Hakonarson H, Webster R, Bhoj EJ, Perkins JA, Dahl JP, Dobyns WB. Wenger TL, et al. Am J Med Genet A. 2020 Jul;182(7):1576-1591. doi: 10.1002/ajmg.a.61615. Epub 2020 Jun 5. Am J Med Genet A. 2020. PMID: 32500973
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.
Poskanzer SA, Schultz MJ, Turgeon CT, Vidal-Folch N, Liedtke K, Oglesbee D, Gavrilov DK, Tortorelli S, Matern D, Rinaldo P, Bennett JT, Thies JM, Chang IJ, Beck AE, Raymond K, Allenspach EJ, Lam C. Poskanzer SA, et al. Among authors: chang ij. Am J Med Genet A. 2021 Jan;185(1):213-218. doi: 10.1002/ajmg.a.61914. Epub 2020 Oct 12. Am J Med Genet A. 2021. PMID: 33044030 Free PMC article.
Targeted long-read sequencing identifies missing disease-causing variation.
Miller DE, Sulovari A, Wang T, Loucks H, Hoekzema K, Munson KM, Lewis AP, Fuerte EPA, Paschal CR, Walsh T, Thies J, Bennett JT, Glass I, Dipple KM, Patterson K, Bonkowski ES, Nelson Z, Squire A, Sikes M, Beckman E, Bennett RL, Earl D, Lee W, Allikmets R, Perlman SJ, Chow P, Hing AV, Wenger TL, Adam MP, Sun A, Lam C, Chang I, Zou X, Austin SL, Huggins E, Safi A, Iyengar AK, Reddy TE, Majoros WH, Allen AS, Crawford GE, Kishnani PS; University of Washington Center for Mendelian Genomics; King MC, Cherry T, Chong JX, Bamshad MJ, Nickerson DA, Mefford HC, Doherty D, Eichler EE. Miller DE, et al. Am J Hum Genet. 2021 Aug 5;108(8):1436-1449. doi: 10.1016/j.ajhg.2021.06.006. Epub 2021 Jul 2. Am J Hum Genet. 2021. PMID: 34216551 Free PMC article.
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium; Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink J… See abstract for full author list ➔ Johnson JO, et al. Among authors: chang ij. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
Zhang T, Duong P, Dayuha R, Collins CJ, Beckman E, Thies J, Chang I, Lam C, Sun A, Scott AI, Thompson J, Singh A, Khaledi H, Gelb MH, Hahn SH. Zhang T, et al. Mol Genet Metab. 2022 Aug;136(4):296-305. doi: 10.1016/j.ymgme.2022.06.006. Epub 2022 Jun 28. Mol Genet Metab. 2022. PMID: 35787971 Free PMC article.
80 results