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126 results

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Page 1
Molecular findings among patients referred for clinical whole-exome sequencing.
Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM. Yang Y, et al. JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601. JAMA. 2014. PMID: 25326635 Free PMC article.
Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray.
Bayer DK, Martinez CA, Sorte HS, Forbes LR, Demmler-Harrison GJ, Hanson IC, Pearson NM, Noroski LM, Zaki SR, Bellini WJ, Leduc MS, Yang Y, Eng CM, Patel A, Rodningen OK, Muzny DM, Gibbs RA, Campbell IM, Shaw CA, Baker MW, Zhang V, Lupski JR, Orange JS, Seeborg FO, Stray-Pedersen A. Bayer DK, et al. Clin Exp Immunol. 2014 Dec;178(3):459-69. doi: 10.1111/cei.12421. Clin Exp Immunol. 2014. PMID: 25046553 Free PMC article.
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
Gambin T, Akdemir ZC, Yuan B, Gu S, Chiang T, Carvalho CMB, Shaw C, Jhangiani S, Boone PM, Eldomery MK, Karaca E, Bayram Y, Stray-Pedersen A, Muzny D, Charng WL, Bahrambeigi V, Belmont JW, Boerwinkle E, Beaudet AL, Gibbs RA, Lupski JR. Gambin T, et al. Nucleic Acids Res. 2017 Feb 28;45(4):1633-1648. doi: 10.1093/nar/gkw1237. Nucleic Acids Res. 2017. PMID: 27980096 Free PMC article.
Lessons learned from additional research analyses of unsolved clinical exome cases.
Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, Schaaf CP, Wangler MF, Bacino CA, Lewis RA, Potocki L, Graham BH, Belmont JW, Scaglia F, Orange JS, Jhangiani SN, Chiang T, Doddapaneni H, Hu J, Muzny DM, Xia F, Beaudet AL, Boerwinkle E, Eng CM, Plon SE, Sutton VR, Gibbs RA, Posey JE, Yang Y, Lupski JR. Eldomery MK, et al. Genome Med. 2017 Mar 21;9(1):26. doi: 10.1186/s13073-017-0412-6. Genome Med. 2017. PMID: 28327206 Free PMC article.
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L; DDD Study; Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P. Yuan B, et al. Genet Med. 2019 Mar;21(3):663-675. doi: 10.1038/s41436-018-0085-6. Epub 2018 Aug 30. Genet Med. 2019. PMID: 30158690 Free PMC article.
Two male sibs with severe micrognathia and a missense variant in MED12.
Prescott TE, Kulseth MA, Heimdal KR, Stadheim B, Hopp E, Gambin T, Coban Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Stray-Pedersen A. Prescott TE, et al. Eur J Med Genet. 2016 Aug;59(8):367-72. doi: 10.1016/j.ejmg.2016.06.001. Epub 2016 Jun 7. Eur J Med Genet. 2016. PMID: 27286923
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR. Stray-Pedersen A, et al. J Allergy Clin Immunol. 2017 Jan;139(1):232-245. doi: 10.1016/j.jaci.2016.05.042. Epub 2016 Jul 16. J Allergy Clin Immunol. 2017. PMID: 27577878 Free PMC article.
Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders.
Forbes LR, Eckstein OS, Gulati N, Peckham-Gregory EC, Ozuah NW, Lubega J, El-Mallawany NK, Agrusa JE, Poli MC, Vogel TP, Chaimowitz NS, Rider NL, Mace EM, Orange JS, Caldwell JW, Aldave-Becerra JC, Jolles S, Saettini F, Chong HJ, Stray-Pedersen A, Heslop HE, Kamdar KY, Rouce RH, Muzny DM, Jhangiani SN, Gibbs RA, Coban-Akdemir ZH, Lupski JR, McClain KL, Allen CE, Chinn IK. Forbes LR, et al. J Allergy Clin Immunol. 2022 Feb;149(2):758-766. doi: 10.1016/j.jaci.2021.07.015. Epub 2021 Jul 28. J Allergy Clin Immunol. 2022. PMID: 34329649 Free PMC article.
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J, Nishimura G, Rustad CF, Abrahamsen TG, Rønnestad A, Osnes LT, Egeland T, Rødningen OK, Beck CR; Baylor-Johns Hopkins Center for Mendelian Genomics; Boerwinkle EA, Gibbs RA, Lupski JR, Orange JS, Lausch E, Hanson IC. Stray-Pedersen A, et al. Am J Hum Genet. 2014 Jul 3;95(1):96-107. doi: 10.1016/j.ajhg.2014.05.007. Epub 2014 Jun 12. Am J Hum Genet. 2014. PMID: 24931394 Free PMC article.
Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.
Stray-Pedersen A, Jouanguy E, Crequer A, Bertuch AA, Brown BS, Jhangiani SN, Muzny DM, Gambin T, Sorte H, Sasa G, Metry D, Campbell J, Sockrider MM, Dishop MK, Scollard DM, Gibbs RA, Mace EM, Orange JS, Lupski JR, Casanova JL, Noroski LM. Stray-Pedersen A, et al. J Clin Immunol. 2014 Oct;34(7):871-90. doi: 10.1007/s10875-014-0074-8. Epub 2014 Jul 30. J Clin Immunol. 2014. PMID: 25073507 Free PMC article.
126 results