Clinical sensitivity of cystic fibrosis mutation panels in a diverse population

Human Mutation

Volumn 37, Issue 2, 2016, Pages 201-208

  Hughes, Erin E ^a   Stevens, Colleen F ^a   Saavedra Matiz, Carlos A ^a   Tavakoli, Norma P ^a,b   Krein, Lea M ^a   Parker, April ^a   Zhang, Zhen ^a   Maloney, Breanne ^a   Vogel, Beth ^a   DeCelie Germana, Joan ^c   Kier, Catherine ^d   Anbar, Ran D ^e   Berdella, Maria N ^f   Comber, Paul G ^g   Dozor, Allen J ^h   Goetz, Danielle M ⁱ   Guida, Louis ^j   Kattan, Meyer ^k   Ting, Andrew ^l   Voter, Karen Z ^m   van Roey, Patrick ^a   Caggana, Michele ^a   Kay, Denise M ^a   Cutting, Garry R ^v   Bashwinger, Suzanne ⁿ   DuJack, Hannah ⁿ   Langfelder Schwind, Elinor ^o   Young, Kara Gardner ^o   Bonforte, Richard J ^l   Quinones, Yvette ^l   Reyes, Nelie ^l   Boyer, Joseph ^h   Welter, John ^h   Westby, Donna ^h   French, Tracy ^h   Jacobs, Kim ^h   Fortner, Christopher ^e   Soultan, Zafer ^e   Forell, Mary ^e   Grabowski, Lori ^e   Rinn, Alissa ^e   Bonitz, Lynn ^p   Carney, Teresa ^q   Ren, Clement ^m   Platt, Mary ^m   Borowitz, Drucy ^r   Harris, Margaret ^r   Fisher, Laura ^r   Ozarowski, Amanda Laterza ^s   Schaefer, Anna Marie ^s   Gomez, Jackie ^t   Pena, Angela ^t   Peters, Linda ^t   Giusti, Robert ^u   Mavaro, Christine ^u   more..

^a WADSWORTH CENTER   (United States)

^b STATE UNIVERSITY OF NEW YORK   (United States)

^c Northwell Health   (United States)

^d STONY BROOK UNIVERSITY MEDICAL CENTER   (United States)

^e SUNY UPSTATE MEDICAL UNIVERSITY   (United States)

^f BETH ISRAEL MEDICAL CENTER   (United States)

^g ALBANY MEDICAL CENTER   (United States)

^h WESTCHESTER MEDICAL CENTER   (United States)

ⁱ CHILDREN S HOSPITAL OF BUFFALO   (United States)

^j Good Samaritan Hospital   (United States)

^k Department of Medicine   (United States)

^l MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^m STRONG MEMORIAL HOSPITAL   (United States)

ⁿ ALBANY MEDICAL COLLEGE   (United States)

^o Mount Sinai Beth   (Israel)

^p Steven and Alexandra Cohen Children's Medical Center of New York   (United States)

^q Medical Center   (United States)

^r Children's Hospital of Buffalo   (United States)

^s Good Samaritan Hospital   (United States)

^t Och Spine at New York Presbyterian Hospitals   (United States)

^u NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^v NONE

more..

Author keywords

CFTR; Clinical sensitivity; Cystic fibrosis; Mutation panel; Newborn screening; Next generation sequencing; NGS

Indexed keywords

ALGORITHM; ARTICLE; BLACK PERSON; CAUCASIAN; CONTROLLED STUDY; CYSTIC FIBROSIS; CYSTIC FIBROSIS ELISA KIT; DNA EXTRACTION; DRIED BLOOD SPOT TESTING; FEASIBILITY STUDY; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; NEWBORN SCREENING; PRIORITY JOURNAL; RACE DIFFERENCE; RETROSPECTIVE STUDY; SENSITIVITY ANALYSIS; VALIDATION STUDY; BIOASSAY; ETHNOLOGY; GENETIC SCREENING; GENETICS; GENOTYPING TECHNIQUE; HISPANIC; MUTATION; NEWBORN; PATHOLOGY; SENSITIVITY AND SPECIFICITY;

CFTR PROTEIN, HUMAN; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR;

AFRICAN CONTINENTAL ANCESTRY GROUP; BIOLOGICAL ASSAY; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DRIED BLOOD SPOT TESTING; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC TESTING; GENOTYPING TECHNIQUES; HISPANIC AMERICANS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; NEONATAL SCREENING; SENSITIVITY AND SPECIFICITY;

EID: 84983042529     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22927     Document Type: Article

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