-
1
-
-
0001752544
-
Cystic fibrosis
-
8th Edition, Volume 3. Edited by Scriver CR, Beaudet AL, Sly WS, Valle D. New York, McGraw-Hill
-
Welsh MJ, Ramsey BW, Accurso F, Cutting GR: Cystic fibrosis. Metabolic and Molecular Bases of Inherited Disease, 8th Edition, Volume 3. Edited by Scriver CR, Beaudet AL, Sly WS, Valle D. New York, McGraw-Hill, 2013, pp 5121-5188
-
(2013)
Metabolic and Molecular Bases of Inherited Disease
, pp. 5121-5188
-
-
Welsh, M.J.1
Ramsey, B.W.2
Accurso, F.3
Cutting, G.R.4
-
2
-
-
4644263276
-
Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population
-
G.E. Palomaki, S.C. FitzSimmons, and J.E. Haddow Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population Genet Med 6 2004 405 414
-
(2004)
Genet Med
, vol.6
, pp. 405-414
-
-
Palomaki, G.E.1
FitzSimmons, S.C.2
Haddow, J.E.3
-
3
-
-
84954065483
-
-
Post TW (Ed), In UpToDate [Internet]. Copyright Wolters Kluwer, Waltham, MA. last revised July 15, 2015
-
Katkin JP, Schultz K. Cystic fibrosis: overview of gastrointestinal disease in UpToDate, Post TW (Ed), In UpToDate [Internet]. Copyright Wolters Kluwer, Waltham, MA. Available at http://www.uptodate.com/contents/cystic-fibrosis-overview-of-gastrointestinal-disease, last revised July 15, 2015
-
Cystic Fibrosis: Overview of Gastrointestinal Disease in UpToDate
-
-
Katkin, J.P.1
Schultz, K.2
-
4
-
-
80051572617
-
Infection, inflammation, and lung function decline in infants with cystic fibrosis
-
N. Pillarisetti, E. Williamson, B. Linnane, B. Skoric, C.F. Robertson, P. Robinson, J. Massie, G.L. Hall, P. Sly, S. Stick, S. Ranganathan Australian Respiratory Early Surveillance Team for Cystic Fibrosis Infection, inflammation, and lung function decline in infants with cystic fibrosis Am J Respir Crit Care Med 184 2011 75 81
-
(2011)
Am J Respir Crit Care Med
, vol.184
, pp. 75-81
-
-
Pillarisetti, N.1
Williamson, E.2
Linnane, B.3
Skoric, B.4
Robertson, C.F.5
Robinson, P.6
Massie, J.7
Hall, G.L.8
Sly, P.9
Stick, S.10
Ranganathan, S.11
-
6
-
-
47049115524
-
Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report
-
P.M. Farrell, B.J. Rosenstein, T.B. White, F.J. Accurso, C. Castellani, G.R. Cutting, P.R. Durie, V.A. Legrys, J. Massie, R.B. Parad, M.J. Rock, and P.W. Campbell Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report J Pediatr 153 2008 S4 S14
-
(2008)
J Pediatr
, vol.153
, pp. S4-S14
-
-
Farrell, P.M.1
Rosenstein, B.J.2
White, T.B.3
Accurso, F.J.4
Castellani, C.5
Cutting, G.R.6
Durie, P.R.7
Legrys, V.A.8
Massie, J.9
Parad, R.B.10
Rock, M.J.11
Campbell, P.W.12
-
7
-
-
77449133011
-
Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond
-
D. Borowitz, R.B. Parad, J.K. Sharp, K.A. Sabadosa, K.A. Robinson, M.J. Rock, P.M. Farrell, M.K. Sontag, M. Rosenfeld, S.D. Davis, B.C. Marshall, and F.J. Accurso Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond J Pediatr 155 2009 S106 S116
-
(2009)
J Pediatr
, vol.155
, pp. S106-S116
-
-
Borowitz, D.1
Parad, R.B.2
Sharp, J.K.3
Sabadosa, K.A.4
Robinson, K.A.5
Rock, M.J.6
Farrell, P.M.7
Sontag, M.K.8
Rosenfeld, M.9
Davis, S.D.10
Marshall, B.C.11
Accurso, F.J.12
-
8
-
-
0037043663
-
Variant cystic fibrosis phenotypes in the absence of CFTR mutations
-
J.D. Groman, M.E. Meyer, R.W. Wilmott, P.L. Zeitlin, and G.R. Cutting Variant cystic fibrosis phenotypes in the absence of CFTR mutations N Engl J Med 347 2002 401 407
-
(2002)
N Engl J Med
, vol.347
, pp. 401-407
-
-
Groman, J.D.1
Meyer, M.E.2
Wilmott, R.W.3
Zeitlin, P.L.4
Cutting, G.R.5
-
9
-
-
57649155710
-
A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis
-
S.J. Mayell, A. Munck, J.V. Craig, I. Sermet, K.G. Brownlee, M.J. Schwarz, C. Castellani, K.W. Southern European Cystic Fibrosis Society Neonatal Screening Working Group A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis J Cyst Fibros 8 2009 71 78
-
(2009)
J Cyst Fibros
, vol.8
, pp. 71-78
-
-
Mayell, S.J.1
Munck, A.2
Craig, J.V.3
Sermet, I.4
Brownlee, K.G.5
Schwarz, M.J.6
Castellani, C.7
Southern, K.W.8
-
10
-
-
34147125373
-
Testing and reporting ACMG cystic fibrosis mutation panel results
-
R.V. Lebo, and W.W. Grody Testing and reporting ACMG cystic fibrosis mutation panel results Genet Test 11 2007 11 31
-
(2007)
Genet Test
, vol.11
, pp. 11-31
-
-
Lebo, R.V.1
Grody, W.W.2
-
11
-
-
4644361735
-
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
-
M.S. Watson, G.R. Cutting, R.J. Desnick, D.A. Driscoll, K. Klinger, M. Mennuti, G.E. Palomaki, B.W. Popovich, V.M. Pratt, E.M. Rohlfs, C.M. Strom, C.S. Richards, D.R. Witt, and W.W. Grody Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel Genet Med 6 2004 387 391
-
(2004)
Genet Med
, vol.6
, pp. 387-391
-
-
Watson, M.S.1
Cutting, G.R.2
Desnick, R.J.3
Driscoll, D.A.4
Klinger, K.5
Mennuti, M.6
Palomaki, G.E.7
Popovich, B.W.8
Pratt, V.M.9
Rohlfs, E.M.10
Strom, C.M.11
Richards, C.S.12
Witt, D.R.13
Grody, W.W.14
-
12
-
-
79953212970
-
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis
-
American College of Obstetrics, Gynecologists Committee on Genetics ACOG Committee Opinion No. 486: update on carrier screening for cystic fibrosis Obstet Gynecol 117 2011 1028 1031
-
(2011)
Obstet Gynecol
, vol.117
, pp. 1028-1031
-
-
-
13
-
-
0035746363
-
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
-
W.W. Grody, G.R. Cutting, K.W. Klinger, C.S. Richards, M.S. Watson, R.J. Desnick Subcommittee on Cystic Fibrosis Screening Accreditation of Genetic Services Committee, ACMG, American College of Medical Genetics Laboratory standards and guidelines for population-based cystic fibrosis carrier screening Genet Med 3 2001 149 154
-
(2001)
Genet Med
, vol.3
, pp. 149-154
-
-
Grody, W.W.1
Cutting, G.R.2
Klinger, K.W.3
Richards, C.S.4
Watson, M.S.5
Desnick, R.J.6
-
14
-
-
84954067543
-
-
Human Genetics Society of Australia Genetic Services Committee. [Internet] Position statement Copyright Human Genetics Society of Australasia, Sydney, Australia. last revised October 2013
-
Delatycki M, Burke J, Cristie L, Collines F, Gabbet M, George P, Haan E, Ioannou L, Massie J, McKenzie F, O'Leary P, Scoble-Williams N, Turner G, Human Genetics Society of Australia Genetic Services Committee. [Internet] Position statement. Population based carrier screening for cystic fibrosis. Copyright Human Genetics Society of Australasia, Sydney, Australia. Available at documents/item/1282, last revised October 2013
-
Population Based Carrier Screening for Cystic Fibrosis
-
-
Delatycki, M.1
Burke, J.2
Cristie, L.3
Collines, F.4
Gabbet, M.5
George, P.6
Haan, E.7
Ioannou, L.8
Massie, J.9
McKenzie, F.10
O'Leary, P.11
Scoble-Williams, N.12
Turner, G.13
-
15
-
-
77953359611
-
Benchmarks for cystic fibrosis carrier screening: A European consensus document
-
C. Castellani, M. Macek Jr., J.J. Cassiman, A. Duff, J. Massie, L.P. ten Kate, D. Barton, G. Cutting, B. Dallapiccola, E. Dequeker, E. Girodon, W. Grody, E.W. Highsmith, H. Kaariainen, S. Kruip, M. Morris, P.F. Pignatti, U. Pypops, M. Schwarz, M. Soller, M. Stuhrman, and H. Cuppens Benchmarks for cystic fibrosis carrier screening: a European consensus document J Cyst Fibros 9 2010 165 178
-
(2010)
J Cyst Fibros
, vol.9
, pp. 165-178
-
-
Castellani, C.1
Macek, M.2
Cassiman, J.J.3
Duff, A.4
Massie, J.5
Ten Kate, L.P.6
Barton, D.7
Cutting, G.8
Dallapiccola, B.9
Dequeker, E.10
Girodon, E.11
Grody, W.12
Highsmith, E.W.13
Kaariainen, H.14
Kruip, S.15
Morris, M.16
Pignatti, P.F.17
Pypops, U.18
Schwarz, M.19
Soller, M.20
Stuhrman, M.21
Cuppens, H.22
more..
-
16
-
-
84878831736
-
ACMG position statement on prenatal/preconception expanded carrier screening
-
W.W. Grody, B.H. Thompson, A.R. Gregg, L.H. Bean, K.G. Monaghan, A. Schneider, and R.V. Lebo ACMG position statement on prenatal/preconception expanded carrier screening Genet Med 15 2013 482 483
-
(2013)
Genet Med
, vol.15
, pp. 482-483
-
-
Grody, W.W.1
Thompson, B.H.2
Gregg, A.R.3
Bean, L.H.4
Monaghan, K.G.5
Schneider, A.6
Lebo, R.V.7
-
17
-
-
4644351639
-
Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: Results from a collaborative study
-
K.G. Monaghan, W.E. Highsmith, J. Amos, V.M. Pratt, B. Roa, M. Friez, L.L. Pike-Buchanan, I.M. Buyse, J.B. Redman, C.M. Strom, A.L. Young, and W. Sun Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: results from a collaborative study Genet Med 6 2004 421 425
-
(2004)
Genet Med
, vol.6
, pp. 421-425
-
-
Monaghan, K.G.1
Highsmith, W.E.2
Amos, J.3
Pratt, V.M.4
Roa, B.5
Friez, M.6
Pike-Buchanan, L.L.7
Buyse, I.M.8
Redman, J.B.9
Strom, C.M.10
Young, A.L.11
Sun, W.12
-
18
-
-
84897639955
-
Molecular testing for cystic fibrosis carrier status practice guidelines: Recommendations of the National Society of Genetic Counselors
-
E. Langfelder-Schwind, B. Karczeski, M.N. Strecker, J. Redman, E.A. Sugarman, C. Zaleski, T. Brown, S. Keiles, A. Powers, S. Ghate, and R. Darrah Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors J Genet Couns 23 2014 5 15
-
(2014)
J Genet Couns
, vol.23
, pp. 5-15
-
-
Langfelder-Schwind, E.1
Karczeski, B.2
Strecker, M.N.3
Redman, J.4
Sugarman, E.A.5
Zaleski, C.6
Brown, T.7
Keiles, S.8
Powers, A.9
Ghate, S.10
Darrah, R.11
-
19
-
-
4644339181
-
Bayesian analysis for cystic fibrosis risks in prenatal and carrier screening
-
S. Ogino, R.B. Wilson, B. Gold, P. Hawley, and W.W. Grody Bayesian analysis for cystic fibrosis risks in prenatal and carrier screening Genet Med 6 2004 439 449
-
(2004)
Genet Med
, vol.6
, pp. 439-449
-
-
Ogino, S.1
Wilson, R.B.2
Gold, B.3
Hawley, P.4
Grody, W.W.5
-
20
-
-
36248989104
-
The Cystic Fibrosis mutation "arms race": When less is more
-
W.W. Grody, G.R. Cutting, and M.S. Watson The Cystic Fibrosis mutation "arms race": when less is more Genet Med 9 2007 739 744
-
(2007)
Genet Med
, vol.9
, pp. 739-744
-
-
Grody, W.W.1
Cutting, G.R.2
Watson, M.S.3
-
21
-
-
22744432600
-
Inborn errors of metabolism
-
A.A. Fanaroff, R.J. Martin, ed 7 Mosby St Louis
-
A.B. Zinn Inborn errors of metabolism A.A. Fanaroff, R.J. Martin, Neonatal-Perinatal Medicine ed 7 2002 Mosby St Louis 1468
-
(2002)
Neonatal-Perinatal Medicine
, pp. 1468
-
-
Zinn, A.B.1
-
22
-
-
4944235029
-
Newborn screening for cystic fibrosis: Evaluation of benefits and risks and recommendations for state newborn screening programs
-
S.D. Grosse, C.A. Boyle, J.R. Botkin, A.M. Comeau, M. Kharrazi, M. Rosenfeld, B.S. Wilfond CDC Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs MMWR Recomm Rep 53 2004 1 36
-
(2004)
MMWR Recomm Rep
, vol.53
, pp. 1-36
-
-
Grosse, S.D.1
Boyle, C.A.2
Botkin, J.R.3
Comeau, A.M.4
Kharrazi, M.5
Rosenfeld, M.6
Wilfond, B.S.7
-
25
-
-
0024575330
-
Immunoreactive trypsinogen screening for cystic fibrosis: Characterization of infants with a false-positive screening test
-
M.J. Rock, E.H. Mischler, P.M. Farrell, W.T. Bruns, D.J. Hassemer, and R.H. Laessig Immunoreactive trypsinogen screening for cystic fibrosis: characterization of infants with a false-positive screening test Pediatr Pulmonol 6 1989 42 48
-
(1989)
Pediatr Pulmonol
, vol.6
, pp. 42-48
-
-
Rock, M.J.1
Mischler, E.H.2
Farrell, P.M.3
Bruns, W.T.4
Hassemer, D.J.5
Laessig, R.H.6
-
26
-
-
84890441466
-
Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations
-
O. Sommerburg, V. Krulisova, J. Hammermann, M. Lindner, M. Stahl, M. Muckenthaler, D. Kohlmueller, M. Happich, A.E. Kulozik, F. Votava, M. Balascakova, V. Skalicka, M. Stopsack, M. Gahr, M. Macek Jr., M.A. Mall, and G.F. Hoffmann Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations J Cyst Fibros 13 2014 15 23
-
(2014)
J Cyst Fibros
, vol.13
, pp. 15-23
-
-
Sommerburg, O.1
Krulisova, V.2
Hammermann, J.3
Lindner, M.4
Stahl, M.5
Muckenthaler, M.6
Kohlmueller, D.7
Happich, M.8
Kulozik, A.E.9
Votava, F.10
Balascakova, M.11
Skalicka, V.12
Stopsack, M.13
Gahr, M.14
Macek, M.15
Mall, M.A.16
Hoffmann, G.F.17
-
27
-
-
0036258208
-
Cystic fibrosis: A worldwide analysis of CFTR mutations-correlation with incidence data and application to screening
-
J.L. Bobadilla, M. Macek Jr., J.P. Fine, and P.M. Farrell Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening Hum Mutat 19 2002 575 606
-
(2002)
Hum Mutat
, vol.19
, pp. 575-606
-
-
Bobadilla, J.L.1
Macek, M.2
Fine, J.P.3
Farrell, P.M.4
-
28
-
-
0344233251
-
Newborn screening for cystic fibrosis: Ensuring more good than harm
-
M.H. Farrell, and P.M. Farrell Newborn screening for cystic fibrosis: ensuring more good than harm J Pediatr 143 2003 707 712
-
(2003)
J Pediatr
, vol.143
, pp. 707-712
-
-
Farrell, M.H.1
Farrell, P.M.2
-
29
-
-
0036180809
-
Genetic and clinical features of false-negative infants in a neonatal screening programme for cystic fibrosis
-
R. Padoan, S. Genoni, E. Moretti, M. Seia, A. Giunta, and C. Corbetta Genetic and clinical features of false-negative infants in a neonatal screening programme for cystic fibrosis Acta Paediatr 91 2002 82 87
-
(2002)
Acta Paediatr
, vol.91
, pp. 82-87
-
-
Padoan, R.1
Genoni, S.2
Moretti, E.3
Seia, M.4
Giunta, A.5
Corbetta, C.6
-
30
-
-
0036766526
-
Comparison of two different protocols of neonatal screening for cystic fibrosis
-
L. Narzi, M. Lucarelli, A. Lelli, F. Grandoni, S. Lo Cicero, A. Ferraro, P. Matarazzo, I. Delaroche, S. Quattrucci, R. Strom, and M. Antonelli Comparison of two different protocols of neonatal screening for cystic fibrosis Clin Genet 62 2002 245 249
-
(2002)
Clin Genet
, vol.62
, pp. 245-249
-
-
Narzi, L.1
Lucarelli, M.2
Lelli, A.3
Grandoni, F.4
Lo Cicero, S.5
Ferraro, A.6
Matarazzo, P.7
Delaroche, I.8
Quattrucci, S.9
Strom, R.10
Antonelli, M.11
-
31
-
-
0942285246
-
Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: A cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections
-
A.M. Comeau, R.B. Parad, H.L. Dorkin, M. Dovey, R. Gerstle, K. Haver, A. Lapey, B.P. O'Sullivan, D.A. Waltz, R.G. Zwerdling, and R.B. Eaton Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections Pediatrics 113 2004 1573 1581
-
(2004)
Pediatrics
, vol.113
, pp. 1573-1581
-
-
Comeau, A.M.1
Parad, R.B.2
Dorkin, H.L.3
Dovey, M.4
Gerstle, R.5
Haver, K.6
Lapey, A.7
O'Sullivan, B.P.8
Waltz, D.A.9
Zwerdling, R.G.10
Eaton, R.B.11
-
32
-
-
84866040295
-
Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA
-
V. Krulisova, M. Balascakova, V. Skalicka, T. Piskackova, A. Holubova, J. Paderova, P. Krenkova, L. Dvorakova, D. Zemkova, P. Kracmar, B. Chovancova, V. Vavrova, A. Stambergova, F. Votava, and M. Macek Jr. Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA Eur J Pediatr 171 2012 1223 1229
-
(2012)
Eur J Pediatr
, vol.171
, pp. 1223-1229
-
-
Krulisova, V.1
Balascakova, M.2
Skalicka, V.3
Piskackova, T.4
Holubova, A.5
Paderova, J.6
Krenkova, P.7
Dvorakova, L.8
Zemkova, D.9
Kracmar, P.10
Chovancova, B.11
Vavrova, V.12
Stambergova, A.13
Votava, F.14
Macek, M.15
-
33
-
-
84862763252
-
Comparing the American and European diagnostic guidelines for cystic fibrosis: Same disease, different language?
-
C.Y. Ooi, A. Dupuis, L. Ellis, K. Jarvi, S. Martin, T. Gonska, R. Dorfman, P. Kortan, M. Solomon, E. Tullis, and P.R. Durie Comparing the American and European diagnostic guidelines for cystic fibrosis: same disease, different language? Thorax 67 2012 618 624
-
(2012)
Thorax
, vol.67
, pp. 618-624
-
-
Ooi, C.Y.1
Dupuis, A.2
Ellis, L.3
Jarvi, K.4
Martin, S.5
Gonska, T.6
Dorfman, R.7
Kortan, P.8
Solomon, M.9
Tullis, E.10
Durie, P.R.11
-
34
-
-
33745809841
-
Cystic fibrosis: Terminology and diagnostic algorithms
-
K. De Boeck, M. Wilschanski, C. Castellani, C. Taylor, H. Cuppens, J. Dodge, M. Sinaasappel Diagnostic Working Group Cystic fibrosis: terminology and diagnostic algorithms Thorax 61 2006 627 635
-
(2006)
Thorax
, vol.61
, pp. 627-635
-
-
De Boeck, K.1
Wilschanski, M.2
Castellani, C.3
Taylor, C.4
Cuppens, H.5
Dodge, J.6
Sinaasappel, M.7
-
35
-
-
84911133920
-
Emerging role of cystic fibrosis transmembrane conductance regulator as an epigenetic regulator: Linking environmental cues to microRNAs
-
H.C. Chan, X. Jiang, and Y.C. Ruan Emerging role of cystic fibrosis transmembrane conductance regulator as an epigenetic regulator: linking environmental cues to microRNAs Clin Exp Pharmacol Physiol 41 2014 615 622
-
(2014)
Clin Exp Pharmacol Physiol
, vol.41
, pp. 615-622
-
-
Chan, H.C.1
Jiang, X.2
Ruan, Y.C.3
-
36
-
-
0036727811
-
Standards and guidelines for CFTR mutation testing
-
C.S. Richards, L.A. Bradley, J. Amos, B. Allitto, W.W. Grody, A. Maddalena, M.J. McGinnis, T.W. Prior, B.W. Popovich, M.S. Watson, and G.E. Palomaki Standards and guidelines for CFTR mutation testing Genet Med 4 2002 379 391
-
(2002)
Genet Med
, vol.4
, pp. 379-391
-
-
Richards, C.S.1
Bradley, L.A.2
Amos, J.3
Allitto, B.4
Grody, W.W.5
Maddalena, A.6
McGinnis, M.J.7
Prior, T.W.8
Popovich, B.W.9
Watson, M.S.10
Palomaki, G.E.11
-
37
-
-
42149139456
-
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
-
C.S. Richards, S. Bale, D.B. Bellissimo, S. Das, W.W. Grody, M.R. Hegde, E. Lyon, B.E. Ward Molecular Subcommittee of the ALQAC ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007 Genet Med 10 2008 294 300
-
(2008)
Genet Med
, vol.10
, pp. 294-300
-
-
Richards, C.S.1
Bale, S.2
Bellissimo, D.B.3
Das, S.4
Grody, W.W.5
Hegde, M.R.6
Lyon, E.7
Ward, B.E.8
-
38
-
-
84883897500
-
ACMG clinical laboratory standards for next-generation sequencing
-
H.L. Rehm, S.J. Bale, P. Bayrak-Toydemir, J.S. Berg, K.K. Brown, J.L. Deignan, M.J. Friez, B.H. Funke, M.R. Hegde, E. Lyon Working Group of the American College of Medical Genetics, Genomics Laboratory Quality Assurance Committee ACMG clinical laboratory standards for next-generation sequencing Genet Med 15 2013 733 747
-
(2013)
Genet Med
, vol.15
, pp. 733-747
-
-
Rehm, H.L.1
Bale, S.J.2
Bayrak-Toydemir, P.3
Berg, J.S.4
Brown, K.K.5
Deignan, J.L.6
Friez, M.J.7
Funke, B.H.8
Hegde, M.R.9
Lyon, E.10
-
39
-
-
84867350321
-
Opportunities and challenges associated with clinical diagnostic genome sequencing: A report of the Association for Molecular Pathology
-
I. Schrijver, N. Aziz, D.H. Farkas, M. Furtado, A. Ferreira-Gonzalez, T.C. Greiner, W.W. Grody, T. Hambuch, L. Kalman, J.A. Kant, R.D. Klein, D.G.B. Leonard, I.M. Lubin, R. Mao, N. Nagan, V.M. Pratt, M.E. Sobel, K.V. Voelkerding, and J.S. Gibson Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology J Mol Diagn 14 2012 525 540
-
(2012)
J Mol Diagn
, vol.14
, pp. 525-540
-
-
Schrijver, I.1
Aziz, N.2
Farkas, D.H.3
Furtado, M.4
Ferreira-Gonzalez, A.5
Greiner, T.C.6
Grody, W.W.7
Hambuch, T.8
Kalman, L.9
Kant, J.A.10
Klein, R.D.11
Leonard, D.G.B.12
Lubin, I.M.13
Mao, R.14
Nagan, N.15
Pratt, V.M.16
Sobel, M.E.17
Voelkerding, K.V.18
Gibson, J.S.19
-
40
-
-
67149128742
-
Development of genomic reference materials for cystic fibrosis genetic testing
-
V.M. Pratt, M. Caggana, C. Bridges, A.M. Buller, L. DiAntonio, W.E. Highsmith, L.M. Holtegaard, K. Muralidharan, E.M. Rohlfs, J. Tarleton, L. Toji, S.D. Barker, and L.V. Kalman Development of genomic reference materials for cystic fibrosis genetic testing J Mol Diagn 11 2009 186 193
-
(2009)
J Mol Diagn
, vol.11
, pp. 186-193
-
-
Pratt, V.M.1
Caggana, M.2
Bridges, C.3
Buller, A.M.4
DiAntonio, L.5
Highsmith, W.E.6
Holtegaard, L.M.7
Muralidharan, K.8
Rohlfs, E.M.9
Tarleton, J.10
Toji, L.11
Barker, S.D.12
Kalman, L.V.13
-
41
-
-
84969322934
-
College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests
-
N. Aziz, Q. Zhao, L. Bry, D.K. Driscoll, B. Funke, J.S. Gibson, W.W. Grody, M.R. Hegde, G.A. Hoeltge, D.G. Leonard, J.D. Merker, R. Nagarajan, L.A. Palicki, R.S. Robetorye, I. Schrijver, K.E. Weck, and K.V. Voelkerding College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests Arch Pathol Lab Med 11 2015 186 193
-
(2015)
Arch Pathol Lab Med
, vol.11
, pp. 186-193
-
-
Aziz, N.1
Zhao, Q.2
Bry, L.3
Driscoll, D.K.4
Funke, B.5
Gibson, J.S.6
Grody, W.W.7
Hegde, M.R.8
Hoeltge, G.A.9
Leonard, D.G.10
Merker, J.D.11
Nagarajan, R.12
Palicki, L.A.13
Robetorye, R.S.14
Schrijver, I.15
Weck, K.E.16
Voelkerding, K.V.17
-
42
-
-
84938531073
-
Molecular genetic testing for cystic fibrosis: Laboratory performance on the College of American Pathologists external proficiency surveys
-
E. Lyon, I. Schrijver, K.E. Weck, A. Ferreira-Gonzalez, C.S. Richards, and G.E. Palomaki Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys Genet Med 17 2015 219 225
-
(2015)
Genet Med
, vol.17
, pp. 219-225
-
-
Lyon, E.1
Schrijver, I.2
Weck, K.E.3
Ferreira-Gonzalez, A.4
Richards, C.S.5
Palomaki, G.E.6
-
43
-
-
84893635979
-
Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders
-
C.S. Richards, G.E. Palomaki, F.L. Lacbawan, E. Lyon, G.L. Feldman CAP/ACMG Biochemical and Molecular Genetics Resource Committee Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders Genet Med 16 2014 25 32
-
(2014)
Genet Med
, vol.16
, pp. 25-32
-
-
Richards, C.S.1
Palomaki, G.E.2
Lacbawan, F.L.3
Lyon, E.4
Feldman, G.L.5
-
44
-
-
84902314504
-
Rate of improvement of CF life expectancy exceeds that of general population: Observational death registration study
-
M.N. Hurley, T.M. McKeever, A.P. Prayle, A.W. Fogarty, and A.R. Smyth Rate of improvement of CF life expectancy exceeds that of general population: observational death registration study J Cyst Fibros 13 2014 410 415
-
(2014)
J Cyst Fibros
, vol.13
, pp. 410-415
-
-
Hurley, M.N.1
McKeever, T.M.2
Prayle, A.P.3
Fogarty, A.W.4
Smyth, A.R.5
-
45
-
-
84879000844
-
Cystic fibrosis transmembrane regulator correctors and potentiators
-
pii: a009761
-
S.M. Rowe, and A.S. Verkman Cystic fibrosis transmembrane regulator correctors and potentiators Cold Spring Harb Perspect Med 3 2013 10.1101/cshperspect.a009761 pii: a009761
-
(2013)
Cold Spring Harb Perspect Med
, vol.3
-
-
Rowe, S.M.1
Verkman, A.S.2
-
47
-
-
84866097633
-
Personalized medicine in cystic fibrosis: Dawning of a new era
-
J.P. Clancy, and M. Jain Personalized medicine in cystic fibrosis: dawning of a new era Am J Respir Crit Care Med 186 2012 593 597
-
(2012)
Am J Respir Crit Care Med
, vol.186
, pp. 593-597
-
-
Clancy, J.P.1
Jain, M.2
-
48
-
-
84909583944
-
Delivery of genes into the CF airway
-
D.R. Gill, and S.C. Hyde Delivery of genes into the CF airway Thorax 69 2014 962 964
-
(2014)
Thorax
, vol.69
, pp. 962-964
-
-
Gill, D.R.1
Hyde, S.C.2
-
49
-
-
84878978974
-
New pulmonary therapies directed at targets other than CFTR
-
pii: a009787
-
S.H. Donaldson, and L. Galietta New pulmonary therapies directed at targets other than CFTR Cold Spring Harb Perspect Med 3 2013 10.1101/cshperspect.a009787 pii: a009787
-
(2013)
Cold Spring Harb Perspect Med
, vol.3
-
-
Donaldson, S.H.1
Galietta, L.2
-
50
-
-
84885022205
-
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
-
P.R. Sosnay, K.R. Siklosi, F. Van Goor, K. Kaniecki, H. Yu, N. Sharma, A.S. Ramalho, M.D. Amaral, R. Dorfman, J. Zielenski, D.L. Masica, R. Karchin, L. Millen, P.J. Thomas, G.P. Patrinos, M. Corey, M.H. Lewis, J.M. Rommens, C. Castellani, C.M. Penland, and G.R. Cutting Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene Nat Genet 45 2013 1160 1167
-
(2013)
Nat Genet
, vol.45
, pp. 1160-1167
-
-
Sosnay, P.R.1
Siklosi, K.R.2
Van Goor, F.3
Kaniecki, K.4
Yu, H.5
Sharma, N.6
Ramalho, A.S.7
Amaral, M.D.8
Dorfman, R.9
Zielenski, J.10
Masica, D.L.11
Karchin, R.12
Millen, L.13
Thomas, P.J.14
Patrinos, G.P.15
Corey, M.16
Lewis, M.H.17
Rommens, J.M.18
Castellani, C.19
Penland, C.M.20
Cutting, G.R.21
more..
-
52
-
-
78650477795
-
Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis
-
C.Y. Ooi, R. Dorfman, M. Cipolli, T. Gonska, C. Castellani, K. Keenan, S.D. Freedman, J. Zielenski, Y. Berthiaume, M. Corey, S. Schibli, E. Tullis, and P.R. Durie Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis Gastroenterology 140 2011 153 161
-
(2011)
Gastroenterology
, vol.140
, pp. 153-161
-
-
Ooi, C.Y.1
Dorfman, R.2
Cipolli, M.3
Gonska, T.4
Castellani, C.5
Keenan, K.6
Freedman, S.D.7
Zielenski, J.8
Berthiaume, Y.9
Corey, M.10
Schibli, S.11
Tullis, E.12
Durie, P.R.13
-
53
-
-
33749328098
-
Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis
-
S.M. Blackman, R. Deering-Brose, R. McWilliams, K. Naughton, B. Coleman, T. Lai, M. Algire, S. Beck, J. Hoover-Fong, A. Hamosh, M.D. Fallin, K. West, D.E. Arking, A. Chakravarti, D.J. Cutler, and G.R. Cutting Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis Gastroenterology 131 2006 1030 1039
-
(2006)
Gastroenterology
, vol.131
, pp. 1030-1039
-
-
Blackman, S.M.1
Deering-Brose, R.2
McWilliams, R.3
Naughton, K.4
Coleman, B.5
Lai, T.6
Algire, M.7
Beck, S.8
Hoover-Fong, J.9
Hamosh, A.10
Fallin, M.D.11
West, K.12
Arking, D.E.13
Chakravarti, A.14
Cutler, D.J.15
Cutting, G.R.16
-
54
-
-
56149086854
-
Genetic determinants and epidemiology of cystic fibrosis-related diabetes: Results from a British cohort of children and adults
-
A.I. Adler, B.S. Shine, P. Chamnan, C.S. Haworth, and D. Bilton Genetic determinants and epidemiology of cystic fibrosis-related diabetes: results from a British cohort of children and adults Diabetes Care 31 2008 1789 1794
-
(2008)
Diabetes Care
, vol.31
, pp. 1789-1794
-
-
Adler, A.I.1
Shine, B.S.2
Chamnan, P.3
Haworth, C.S.4
Bilton, D.5
-
55
-
-
84877297777
-
The influence of genetics on cystic fibrosis phenotypes
-
M.R. Knowles, and M. Drumm The influence of genetics on cystic fibrosis phenotypes Cold Spring Harb Perspect Med 2 2012 a009548 10.1101/cshperspect.a009548
-
(2012)
Cold Spring Harb Perspect Med
, vol.2
, pp. a009548
-
-
Knowles, M.R.1
Drumm, M.2
-
56
-
-
34147148573
-
Variable penetrance and expressivity of the splice altering 5T sequence in the cystic fibrosis gene
-
R.V. Lebo, and W.W. Grody Variable penetrance and expressivity of the splice altering 5T sequence in the cystic fibrosis gene Genet Test 11 2007 32 44
-
(2007)
Genet Test
, vol.11
, pp. 32-44
-
-
Lebo, R.V.1
Grody, W.W.2
-
57
-
-
78751704809
-
Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia
-
F. Stanke, T. Becker, V. Kumar, S. Hedtfeld, C. Becker, H. Cuppens, S. Tamm, J. Yarden, U. Laabs, B. Siebert, L. Fernandez, M. Macek Jr., D. Radojkovic, M. Ballmann, J. Greipel, J.J. Cassiman, T.F. Wienker, and B. Tummler Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia J Med Genet 48 2011 24 31
-
(2011)
J Med Genet
, vol.48
, pp. 24-31
-
-
Stanke, F.1
Becker, T.2
Kumar, V.3
Hedtfeld, S.4
Becker, C.5
Cuppens, H.6
Tamm, S.7
Yarden, J.8
Laabs, U.9
Siebert, B.10
Fernandez, L.11
Macek, M.12
Radojkovic, D.13
Ballmann, M.14
Greipel, J.15
Cassiman, J.J.16
Wienker, T.F.17
Tummler, B.18
-
58
-
-
34248346723
-
Heritability of lung disease severity in cystic fibrosis
-
L.L. Vanscoy, S.M. Blackman, J.M. Collaco, A. Bowers, T. Lai, K. Naughton, M. Algire, R. McWilliams, S. Beck, J. Hoover-Fong, A. Hamosh, D. Cutler, and G.R. Cutting Heritability of lung disease severity in cystic fibrosis Am J Respir Crit Care Med 175 2007 1036 1043
-
(2007)
Am J Respir Crit Care Med
, vol.175
, pp. 1036-1043
-
-
Vanscoy, L.L.1
Blackman, S.M.2
Collaco, J.M.3
Bowers, A.4
Lai, T.5
Naughton, K.6
Algire, M.7
McWilliams, R.8
Beck, S.9
Hoover-Fong, J.10
Hamosh, A.11
Cutler, D.12
Cutting, G.R.13
-
59
-
-
84864397328
-
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis
-
M.J. Emond, T. Louie, J. Emerson, W. Zhao, R.A. Mathias, M.R. Knowles, F.A. Wright, M.J. Rieder, H.K. Tabor, D.A. Nickerson, K.C. Barnes National Heart Lung, Blood Institute GO Exome Sequencing Project G.O. Lung, R.L. Gibson, and M.J. Bamshad Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis Nat Genet 44 2012 886 889
-
(2012)
Nat Genet
, vol.44
, pp. 886-889
-
-
Emond, M.J.1
Louie, T.2
Emerson, J.3
Zhao, W.4
Mathias, R.A.5
Knowles, M.R.6
Wright, F.A.7
Rieder, M.J.8
Tabor, H.K.9
Nickerson, D.A.10
Barnes, K.C.11
Lung, G.O.12
Gibson, R.L.13
Bamshad, M.J.14
-
60
-
-
78650404224
-
Modifier genes in Mendelian disorders: The example of cystic fibrosis
-
G.R. Cutting Modifier genes in Mendelian disorders: the example of cystic fibrosis Ann N Y Acad Sci 1214 2010 57 69
-
(2010)
Ann N y Acad Sci
, vol.1214
, pp. 57-69
-
-
Cutting, G.R.1
-
61
-
-
77958034453
-
Quantification of the relative contribution of environmental and genetic factors to variation in cystic fibrosis lung function
-
J.M. Collaco, S.M. Blackman, J. McGready, K.M. Naughton, and G.R. Cutting Quantification of the relative contribution of environmental and genetic factors to variation in cystic fibrosis lung function J Pediatr 157 2010 802 807
-
(2010)
J Pediatr
, vol.157
, pp. 802-807
-
-
Collaco, J.M.1
Blackman, S.M.2
McGready, J.3
Naughton, K.M.4
Cutting, G.R.5
-
62
-
-
79957588506
-
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2
-
F.A. Wright, L.J. Strug, V.K. Doshi, C.W. Commander, S.M. Blackman, L. Sun, and et al. Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2 Nat Genet 43 2011 539 546
-
(2011)
Nat Genet
, vol.43
, pp. 539-546
-
-
Wright, F.A.1
Strug, L.J.2
Doshi, V.K.3
Commander, C.W.4
Blackman, S.M.5
Sun, L.6
-
64
-
-
55149107169
-
Update on gene modifiers in cystic fibrosis
-
J.M. Collaco, and G.R. Cutting Update on gene modifiers in cystic fibrosis Curr Opin Pulm Med 14 2008 559 566
-
(2008)
Curr Opin Pulm Med
, vol.14
, pp. 559-566
-
-
Collaco, J.M.1
Cutting, G.R.2
-
65
-
-
84860350767
-
Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis
-
L. Sun, J.M. Rommens, H. Corvol, W. Li, X. Li, T.A. Chiang, F. Lin, R. Dorfman, P.F. Busson, R.V. Parekh, D. Zelenika, S.M. Blackman, M. Corey, V.K. Doshi, L. Henderson, K.M. Naughton, W.K. O'Neal, R.G. Pace, J.R. Stonebraker, S.D. Wood, F.A. Wright, J. Zielenski, A. Clement, M.L. Drumm, P.Y. Boelle, G.R. Cutting, M.R. Knowles, P.R. Durie, and L.J. Strug Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis Nat Genet 44 2012 562 569
-
(2012)
Nat Genet
, vol.44
, pp. 562-569
-
-
Sun, L.1
Rommens, J.M.2
Corvol, H.3
Li, W.4
Li, X.5
Chiang, T.A.6
Lin, F.7
Dorfman, R.8
Busson, P.F.9
Parekh, R.V.10
Zelenika, D.11
Blackman, S.M.12
Corey, M.13
Doshi, V.K.14
Henderson, L.15
Naughton, K.M.16
O'Neal, W.K.17
Pace, R.G.18
Stonebraker, J.R.19
Wood, S.D.20
Wright, F.A.21
Zielenski, J.22
Clement, A.23
Drumm, M.L.24
Boelle, P.Y.25
Cutting, G.R.26
Knowles, M.R.27
Durie, P.R.28
Strug, L.J.29
more..
-
66
-
-
84893158901
-
Unraveling the complex genetic model for cystic fibrosis: Pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities
-
W. Li, D. Soave, M.R. Miller, K. Keenan, F. Lin, J. Gong, T. Chiang, A.L. Stephenson, P. Durie, J. Rommens, L. Sun, and L.J. Strug Unraveling the complex genetic model for cystic fibrosis: pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities Hum Genet 133 2014 151 161
-
(2014)
Hum Genet
, vol.133
, pp. 151-161
-
-
Li, W.1
Soave, D.2
Miller, M.R.3
Keenan, K.4
Lin, F.5
Gong, J.6
Chiang, T.7
Stephenson, A.L.8
Durie, P.9
Rommens, J.10
Sun, L.11
Strug, L.J.12
-
67
-
-
84891361596
-
Genetic modifiers of cystic fibrosis-related diabetes
-
S.M. Blackman, C.W. Commander, C. Watson, K.M. Arcara, L.J. Strug, J.R. Stonebraker, F.A. Wright, J.M. Rommens, L. Sun, R.G. Pace, S.A. Norris, P.R. Durie, M.L. Drumm, M.R. Knowles, and G.R. Cutting Genetic modifiers of cystic fibrosis-related diabetes Diabetes 62 2013 3627 3635
-
(2013)
Diabetes
, vol.62
, pp. 3627-3635
-
-
Blackman, S.M.1
Commander, C.W.2
Watson, C.3
Arcara, K.M.4
Strug, L.J.5
Stonebraker, J.R.6
Wright, F.A.7
Rommens, J.M.8
Sun, L.9
Pace, R.G.10
Norris, S.A.11
Durie, P.R.12
Drumm, M.L.13
Knowles, M.R.14
Cutting, G.R.15
-
68
-
-
84869742790
-
Genetic modifiers of nutritional status in cystic fibrosis
-
G.M. Bradley, S.M. Blackman, C.P. Watson, V.K. Doshi, and G.R. Cutting Genetic modifiers of nutritional status in cystic fibrosis Am J Clin Nutr 96 2012 1299 1308
-
(2012)
Am J Clin Nutr
, vol.96
, pp. 1299-1308
-
-
Bradley, G.M.1
Blackman, S.M.2
Watson, C.P.3
Doshi, V.K.4
Cutting, G.R.5
-
69
-
-
70149106634
-
Genetic modifiers of liver disease in cystic fibrosis
-
J.R. Bartlett, K.J. Friedman, S.C. Ling, R.G. Pace, S.C. Bell, B. Bourke, G. Castaldo, C. Castellani, M. Cipolli, C. Colombo, J.L. Colombo, D. Debray, A. Fernandez, F. Lacaille, M. Macek Jr., M. Rowland, F. Salvatore, C.J. Taylor, C. Wainwright, M. Wilschanski, D. Zemkova, W.B. Hannah, M.J. Phillips, M. Corey, J. Zielenski, R. Dorfman, Y. Wang, F. Zou, L.M. Silverman, M.L. Drumm, F.A. Wright, E.M. Lange, P.R. Durie, M.R. Knowles Gene Modifier Study Group Genetic modifiers of liver disease in cystic fibrosis JAMA 302 2009 1076 1083
-
(2009)
JAMA
, vol.302
, pp. 1076-1083
-
-
Bartlett, J.R.1
Friedman, K.J.2
Ling, S.C.3
Pace, R.G.4
Bell, S.C.5
Bourke, B.6
Castaldo, G.7
Castellani, C.8
Cipolli, M.9
Colombo, C.10
Colombo, J.L.11
Debray, D.12
Fernandez, A.13
Lacaille, F.14
Macek, M.15
Rowland, M.16
Salvatore, F.17
Taylor, C.J.18
Wainwright, C.19
Wilschanski, M.20
Zemkova, D.21
Hannah, W.B.22
Phillips, M.J.23
Corey, M.24
Zielenski, J.25
Dorfman, R.26
Wang, Y.27
Zou, F.28
Silverman, L.M.29
Drumm, M.L.30
Wright, F.A.31
Lange, E.M.32
Durie, P.R.33
Knowles, M.R.34
more..
|