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131 results

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Page 1
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: madden ja. 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.
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: madden ja. 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.
Infant mortality: the contribution of genetic disorders.
Wojcik MH, Schwartz TS, Thiele KE, Paterson H, Stadelmaier R, Mullen TE, VanNoy GE, Genetti CA, Madden JA, Gubbels CS, Yu TW, Tan WH, Agrawal PB. Wojcik MH, et al. Among authors: madden ja. J Perinatol. 2019 Dec;39(12):1611-1619. doi: 10.1038/s41372-019-0451-5. Epub 2019 Aug 8. J Perinatol. 2019. PMID: 31395954 Free PMC article.
Congenital Heart Defects Due to TAF1 Missense Variants.
Morton SU, Agarwal R, Madden JA, Genetti CA, Brownstein CA, López-Giráldez F, Choi J, Seidman CE, Seidman JG, Lyon GJ, Agrawal PB. Morton SU, et al. Among authors: madden ja. Circ Genom Precis Med. 2020 Jun;13(3):e002843. doi: 10.1161/CIRCGEN.119.002843. Epub 2020 May 12. Circ Genom Precis Med. 2020. PMID: 32396742 Free PMC article. No abstract available.
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: madden ja. 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.
PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.
Tremblay-Laganière C, Kaiyrzhanov R, Maroofian R, Nguyen TTM, Salayev K, Chilton IT, Chung WK, Madden JA, Phornphutkul C, Agrawal PB, Houlden H, Campeau PM. Tremblay-Laganière C, et al. Among authors: madden ja. Clin Genet. 2021 Feb;99(2):313-317. doi: 10.1111/cge.13877. Epub 2020 Nov 27. Clin Genet. 2021. PMID: 33156547 Free PMC article.
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
Thomas Q, Gautier T, Marafi D, Besnard T, Willems M, Moutton S, Isidor B, Cogné B, Conrad S, Tenconi R, Iascone M, Sorlin A, Masurel A, Dabir T, Jackson A, Banka S, Delanne J, Lupski JR, Saadi NW, Alkuraya FS, Zahrani FA, Agrawal PB, England E, Madden JA, Posey JE, Burglen L, Rodriguez D, Chevarin M, Nguyen S, Mau-Them FT, Duffourd Y, Garret P, Bruel AL, Callier P, Marle N, Denomme-Pichon AS, Duplomb L, Philippe C, Thauvin-Robinet C, Govin J, Faivre L, Vitobello A. Thomas Q, et al. Among authors: madden ja. Genet Med. 2021 Oct;23(10):1901-1911. doi: 10.1038/s41436-021-01218-6. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113008 Free article.
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Duncan AR, Polovitskaya MM, Gaitán-Peñas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, Novelli A, Alfieri P, Colafati GS, Wieczorek D, Platzer K, Luppe J, Koch-Hogrebe M, Abou Jamra R, Neira-Fresneda J, Lehman A, Boerkoel CF, Seath K, Clarke L; CAUSES Study; van Ierland Y, Argilli E, Sherr EH, Maiorana A, Diel T, Hempel M, Bierhals T, Estévez R, Jentsch TJ, Pusch M, Agrawal PB. Duncan AR, et al. Among authors: madden ja. Am J Hum Genet. 2021 Aug 5;108(8):1450-1465. doi: 10.1016/j.ajhg.2021.06.003. Epub 2021 Jun 28. Am J Hum Genet. 2021. PMID: 34186028 Free PMC article.
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.
Li Q, Dibus M, Casey A, Yee CSK, Vargas SO, Luo S, Rosen SM, Madden JA, Genetti CA, Brabek J, Brownstein CA, Kazerounian S, Raby BA, Schmitz-Abe K, Kennedy JC, Fishman MP, Mullen MP, Taylor JM, Rosel D, Agrawal PB. Li Q, et al. Among authors: madden ja. PLoS Genet. 2021 Jul 7;17(7):e1009639. doi: 10.1371/journal.pgen.1009639. eCollection 2021 Jul. PLoS Genet. 2021. PMID: 34232960 Free PMC article.
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR, Genetti CA, Aykanat A, Brownstein CA, Schmitz-Abe K, Danowski M, Quitadomo A, Madden JA, Yacoubian C, Gain R, Williams T, Meskell M, Brown A, Frith A, Rockowitz S, Sliz P, Agrawal PB, Defay T, McDonagh P, Reynders J, Lefebvre S, Beggs AH. Parikh JR, et al. Among authors: madden ja. HGG Adv. 2021 Jul;2(3):100035. doi: 10.1016/j.xhgg.2021.100035. Epub 2021 May 11. HGG Adv. 2021. PMID: 34514437 Free PMC article.
131 results