A dyadic approach to the delineation of diagnostic entities in clinical genomics

Leslie G. Biesecker; Margaret P. Adam; Fowzan S. Alkuraya; Anne R. Amemiya; Michael J. Bamshad; Anita E. Beck; James T. Bennett; Lynne M. Bird; John C. Carey; Brian Chung; Robin D. Clark; Timothy C. Cox; Cynthia Curry; Mary Beth Palko Dinulos; William B. Dobyns; Philip F. Giampietro; Katta M. Girisha; Ian A. Glass; John M. Graham; Karen W. Gripp; Chad R. Haldeman-Englert; Bryan D. Hall; A. Micheil Innes; Jennifer M. Kalish; Kim M. Keppler-Noreuil; Kenjiro Kosaki; Beth A. Kozel; Ghayda M. Mirzaa; John J. Mulvihill; Malgorzata J.M. Nowaczyk; Roberta A. Pagon; Kyle Retterer; Alan F. Rope; Pedro A. Sanchez-Lara; Laurie H. Seaver; Joseph T. Shieh; Anne M. Slavotinek; Andrew K. Sobering; Cathy A. Stevens; David A. Stevenson; Tiong Yang Tan; Wen Hann Tan; Anne C. Tsai; David D. Weaver; Marc S. Williams; Elaine Zackai; Yuri A. Zarate

doi:10.1016/j.ajhg.2020.11.013

A dyadic approach to the delineation of diagnostic entities in clinical genomics

Leslie G. Biesecker
, Margaret P. Adam
, Fowzan S. Alkuraya
, Anne R. Amemiya
, Michael J. Bamshad
, Anita E. Beck
, James T. Bennett
, Lynne M. Bird
, John C. Carey
, Brian Chung
, Robin D. Clark
, Timothy C. Cox
, Cynthia Curry
, Mary Beth Palko Dinulos
, William B. Dobyns
, Philip F. Giampietro
, Katta M. Girisha
, Ian A. Glass
, John M. Graham
, Karen W. Gripp

Chad R. Haldeman-Englert, Bryan D. Hall, A. Micheil Innes, Jennifer M. Kalish, Kim M. Keppler-Noreuil, Kenjiro Kosaki, Beth A. Kozel, Ghayda M. Mirzaa, John J. Mulvihill, Malgorzata J.M. Nowaczyk, Roberta A. Pagon, Kyle Retterer, Alan F. Rope, Pedro A. Sanchez-Lara, Laurie H. Seaver, Joseph T. Shieh, Anne M. Slavotinek, Andrew K. Sobering, Cathy A. Stevens, David A. Stevenson, Tiong Yang Tan, Wen Hann Tan, Anne C. Tsai, David D. Weaver, Marc S. Williams, Elaine Zackai, Yuri A. Zarate

Pediatric Genetics Division

Research output: Contribution to journal › Review article › peer-review

Original language	English
Pages (from-to)	8-15
Number of pages	8
Journal	American Journal of Human Genetics
Volume	108
Issue number	1
DOIs	https://doi.org/10.1016/j.ajhg.2020.11.013
State	Published - Jan 7 2021

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

Keywords

Cystic Fibrosis Transmembrane Conductance Regulator/genetics
Phenotype
Genetic Diseases, Inborn/diagnosis
Mutation/genetics
Humans
Genotype
Genomics/methods
Cystic Fibrosis/diagnosis

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10.1016/j.ajhg.2020.11.013

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Biesecker, L. G., Adam, M. P., Alkuraya, F. S., Amemiya, A. R., Bamshad, M. J., Beck, A. E., Bennett, J. T., Bird, L. M., Carey, J. C., Chung, B., Clark, R. D., Cox, T. C., Curry, C., Dinulos, M. B. P., Dobyns, W. B., Giampietro, P. F., Girisha, K. M., Glass, I. A., Graham, J. M., ... Zarate, Y. A. (2021). A dyadic approach to the delineation of diagnostic entities in clinical genomics. American Journal of Human Genetics, 108(1), 8-15. https://doi.org/10.1016/j.ajhg.2020.11.013

Biesecker, LG, Adam, MP, Alkuraya, FS, Amemiya, AR, Bamshad, MJ, Beck, AE, Bennett, JT, Bird, LM, Carey, JC, Chung, B, Clark, RD, Cox, TC, Curry, C, Dinulos, MBP, Dobyns, WB, Giampietro, PF, Girisha, KM, Glass, IA, Graham, JM, Gripp, KW, Haldeman-Englert, CR, Hall, BD, Innes, AM, Kalish, JM, Keppler-Noreuil, KM, Kosaki, K, Kozel, BA, Mirzaa, GM, Mulvihill, JJ, Nowaczyk, MJM, Pagon, RA, Retterer, K, Rope, AF, Sanchez-Lara, PA, Seaver, LH, Shieh, JT, Slavotinek, AM, Sobering, AK, Stevens, CA, Stevenson, DA, Tan, TY, Tan, WH, Tsai, AC, Weaver, DD, Williams, MS, Zackai, E & Zarate, YA 2021, 'A dyadic approach to the delineation of diagnostic entities in clinical genomics', American Journal of Human Genetics, vol. 108, no. 1, pp. 8-15. https://doi.org/10.1016/j.ajhg.2020.11.013

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AU - Nowaczyk, Malgorzata J.M.

AU - Pagon, Roberta A.

AU - Retterer, Kyle

AU - Rope, Alan F.

AU - Sanchez-Lara, Pedro A.

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AU - Slavotinek, Anne M.

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AU - Tsai, Anne C.

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AU - Zarate, Yuri A.

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KW - Humans

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KW - Cystic Fibrosis/diagnosis

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A dyadic approach to the delineation of diagnostic entities in clinical genomics

ASJC Scopus Subject Areas

Keywords

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