Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California

Lisa Prach; Ruth Koepke; Martin Kharrazi; Steven Keiles; Danieli B. Salinas; Maria Carmen Reyes; Mark Pian; Harry Opsimos; Kimberly N. Otsuka; Karen Ann Hardy; Carlos E. Milla; Jacquelyn M. Zirbes; Bradley Chipps; Susan O'Bra; Muhammad M. Saeed; Reddivalam Sudhakar; Susan Lehto; Dennis Nielson; Gregory F. Shay; Mary Seastrand; Sanjay Jhawar; Bruce Nickerson; Christopher Landon; Ann Thompson; Eliezer Nussbaum; Terry Chin; Henry Wojtczak

doi:10.1016/j.jmoldx.2013.05.006

Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California

Lisa Prach
, Ruth Koepke
, Martin Kharrazi
, Steven Keiles
, Danieli B. Salinas
, Maria Carmen Reyes
, Mark Pian
, Harry Opsimos
, Kimberly N. Otsuka
, Karen Ann Hardy
, Carlos E. Milla
, Jacquelyn M. Zirbes
, Bradley Chipps
, Susan O'Bra
, Muhammad M. Saeed
, Reddivalam Sudhakar
, Susan Lehto
, Dennis Nielson
, Gregory F. Shay
, Mary Seastrand

Sanjay Jhawar, Bruce Nickerson, Christopher Landon, Ann Thompson, Eliezer Nussbaum, Terry Chin, Henry Wojtczak

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

Original language	English
Pages (from-to)	710-722
Number of pages	13
Journal	Journal of Molecular Diagnostics
Volume	15
Issue number	5
DOIs	https://doi.org/10.1016/j.jmoldx.2013.05.006
State	Published - Sep 2013
Externally published	Yes

ASJC Scopus Subject Areas

Pathology and Forensic Medicine
Molecular Medicine

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Prach, L., Koepke, R., Kharrazi, M., Keiles, S., Salinas, D. B., Reyes, M. C., Pian, M., Opsimos, H., Otsuka, K. N., Hardy, K. A., Milla, C. E., Zirbes, J. M., Chipps, B., O'Bra, S., Saeed, M. M., Sudhakar, R., Lehto, S., Nielson, D., Shay, G. F., ... Wojtczak, H. (2013). Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California. Journal of Molecular Diagnostics, 15(5), 710-722. https://doi.org/10.1016/j.jmoldx.2013.05.006

Prach, L, Koepke, R, Kharrazi, M, Keiles, S, Salinas, DB, Reyes, MC, Pian, M, Opsimos, H, Otsuka, KN, Hardy, KA, Milla, CE, Zirbes, JM, Chipps, B, O'Bra, S, Saeed, MM, Sudhakar, R, Lehto, S, Nielson, D, Shay, GF, Seastrand, M, Jhawar, S, Nickerson, B, Landon, C, Thompson, A, Nussbaum, E, Chin, T & Wojtczak, H 2013, 'Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California', Journal of Molecular Diagnostics, vol. 15, no. 5, pp. 710-722. https://doi.org/10.1016/j.jmoldx.2013.05.006

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title = "Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California",

author = "Lisa Prach and Ruth Koepke and Martin Kharrazi and Steven Keiles and Salinas, \{Danieli B.\} and Reyes, \{Maria Carmen\} and Mark Pian and Harry Opsimos and Otsuka, \{Kimberly N.\} and Hardy, \{Karen Ann\} and Milla, \{Carlos E.\} and Zirbes, \{Jacquelyn M.\} and Bradley Chipps and Susan O'Bra and Saeed, \{Muhammad M.\} and Reddivalam Sudhakar and Susan Lehto and Dennis Nielson and Shay, \{Gregory F.\} and Mary Seastrand and Sanjay Jhawar and Bruce Nickerson and Christopher Landon and Ann Thompson and Eliezer Nussbaum and Terry Chin and Henry Wojtczak",

year = "2013",

month = sep,

doi = "10.1016/j.jmoldx.2013.05.006",

language = "English",

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AU - Prach, Lisa

AU - Koepke, Ruth

AU - Kharrazi, Martin

AU - Keiles, Steven

AU - Salinas, Danieli B.

AU - Reyes, Maria Carmen

AU - Pian, Mark

AU - Opsimos, Harry

AU - Otsuka, Kimberly N.

AU - Hardy, Karen Ann

AU - Milla, Carlos E.

AU - Zirbes, Jacquelyn M.

AU - Chipps, Bradley

AU - O'Bra, Susan

AU - Saeed, Muhammad M.

AU - Sudhakar, Reddivalam

AU - Lehto, Susan

AU - Nielson, Dennis

AU - Shay, Gregory F.

AU - Seastrand, Mary

AU - Jhawar, Sanjay

AU - Nickerson, Bruce

AU - Landon, Christopher

AU - Thompson, Ann

AU - Nussbaum, Eliezer

AU - Chin, Terry

AU - Wojtczak, Henry

PY - 2013/9

Y1 - 2013/9

UR - https://www.scopus.com/pages/publications/84882269533

UR - https://www.scopus.com/pages/publications/84882269533#tab=citedBy

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DO - 10.1016/j.jmoldx.2013.05.006

M3 - Article

SN - 1525-1578

VL - 15

SP - 710

EP - 722

JO - Journal of Molecular Diagnostics

JF - Journal of Molecular Diagnostics

IS - 5

ER -

Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California

ASJC Scopus Subject Areas

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