Identification of a pathogenic mutation in
            ATP2A1
            via in silico analysis of exome data for cryptic aberrant splice sites

Christine C Bruels; Chengcheng Li; Tonatiuh Mendoza; Jamillah Khan; Hemakumar M Reddy; Elicia A. Estrella; Partha S Ghosh; Basil T. Darras; Hart G W Lidov; Christina A Pacak; Louis M Kunkel; Francois Modave; Isabelle Draper; Peter B Kang

doi:10.1002/mgg3.552

Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites

Christine C Bruels
, Chengcheng Li
, Tonatiuh Mendoza
, Jamillah Khan
, Hemakumar M Reddy
, Elicia A. Estrella
, Partha S Ghosh
, Basil T. Darras
, Hart G W Lidov
, Christina A Pacak
, Louis M Kunkel
, Francois Modave
, Isabelle Draper
, Peter B Kang

Research output: Contribution to journal › Article › peer-review

Original language	English (US)
Journal	Molecular genetics & genomic medicine
DOIs	https://doi.org/10.1002/mgg3.552
State	Published - Mar 2019
Externally published	Yes

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10.1002/mgg3.552

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Bruels, C. C., Li, C., Mendoza, T., Khan, J., Reddy, H. M., Estrella, E. A., Ghosh, P. S., Darras, B. T., Lidov, H. G. W., Pacak, C. A., Kunkel, L. M., Modave, F., Draper, I., & Kang, P. B. (2019). Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. Molecular genetics & genomic medicine. https://doi.org/10.1002/mgg3.552

Bruels, CC, Li, C, Mendoza, T, Khan, J, Reddy, HM, Estrella, EA, Ghosh, PS, Darras, BT, Lidov, HGW, Pacak, CA, Kunkel, LM, Modave, F, Draper, I & Kang, PB 2019, 'Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites', Molecular genetics & genomic medicine. https://doi.org/10.1002/mgg3.552

@article{380f229c734e4af9bfa7686977336bde,

title = "Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites",

author = "Bruels, \{Christine C\} and Chengcheng Li and Tonatiuh Mendoza and Jamillah Khan and Reddy, \{Hemakumar M\} and Estrella, \{Elicia A.\} and Ghosh, \{Partha S\} and Darras, \{Basil T.\} and Lidov, \{Hart G W\} and Pacak, \{Christina A\} and Kunkel, \{Louis M\} and Francois Modave and Isabelle Draper and Kang, \{Peter B\}",

year = "2019",

month = mar,

doi = "10.1002/mgg3.552",

language = "English (US)",

journal = "Molecular genetics \& genomic medicine",

issn = "2324-9269",

publisher = "John Wiley and Sons Inc.",

}

TY - JOUR

T1 - Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites

AU - Bruels, Christine C

AU - Li, Chengcheng

AU - Mendoza, Tonatiuh

AU - Khan, Jamillah

AU - Reddy, Hemakumar M

AU - Estrella, Elicia A.

AU - Ghosh, Partha S

AU - Darras, Basil T.

AU - Lidov, Hart G W

AU - Pacak, Christina A

AU - Kunkel, Louis M

AU - Modave, Francois

AU - Draper, Isabelle

AU - Kang, Peter B

PY - 2019/3

Y1 - 2019/3

UR - http://dx.doi.org/10.1002/mgg3.552

U2 - 10.1002/mgg3.552

DO - 10.1002/mgg3.552

M3 - Article

C2 - 30688039

SN - 2324-9269

JO - Molecular genetics & genomic medicine

JF - Molecular genetics & genomic medicine

ER -

Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites

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