Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

P Sen; YP Yang; C Navarro; I De Silva; P Szafranski; KE Kolodziejska; AV Dharmadhikari; H Mostafa; H Kozakewich; D Kearney; JB Cahill; M Whitt; Marijana Bilic; L Margraf; A Charles; J Goldblatt; K Gibson; PE Lantz; AJ Garvin; J Petty; Z Kiblawi; C Zuppan; A McConkie-Rosell; MT McDonald; SL Peterson-Carmichael; JT Gaede; B Shivanna; D Schady; PS Friedlich; SR Hays; IV Palafoll; U Siebers-Renelt; A Bohring; LS Finn; JR Siebert; C Galambos; L Nguyen; M Riley; N Chassaing; A Vigouroux; G Rocha; S Fernandes; J Brumbaugh; K Roberts; HM Luk; IFM Lo; S Lam; R Gerychova; M Jezova; I Valaskova; F Fellmann; K Afshar; E Giannoni; V Muhlethaler; JL Liang; JS Beckmann; J Lioy; H Deshmukh; L Srinivasan; DT Swarr; M Sloman; C Shaw-Smith; RL van Loon; C Hagman; Y Sznajer; C Barrea; C Galant; T Detaille; JA Wambach; FS Cole; A Hamvas; LS Prince; Karin Diderich; Alice Brooks; Rob Verdijk; H Ravindranathan; E Sugo; D Mowat; ML Baker; C Langston; S Welty; P Stankiewicz

doi:10.1002/humu.22313

Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

P Sen, YP Yang, C Navarro, I De Silva, P Szafranski, KE Kolodziejska, AV Dharmadhikari, H Mostafa, H Kozakewich, D Kearney, JB Cahill, M Whitt, Marijana Bilic, L Margraf, A Charles, J Goldblatt, K Gibson, PE Lantz, AJ Garvin, J PettyZ Kiblawi, C Zuppan, A McConkie-Rosell, MT McDonald, SL Peterson-Carmichael, JT Gaede, B Shivanna, D Schady, PS Friedlich, SR Hays, IV Palafoll, U Siebers-Renelt, A Bohring, LS Finn, JR Siebert, C Galambos, L Nguyen, M Riley, N Chassaing, A Vigouroux, G Rocha, S Fernandes, J Brumbaugh, K Roberts, HM Luk, IFM Lo, S Lam, R Gerychova, M Jezova, I Valaskova, F Fellmann, K Afshar, E Giannoni, V Muhlethaler, JL Liang, JS Beckmann, J Lioy, H Deshmukh, L Srinivasan, DT Swarr, M Sloman, C Shaw-Smith, RL van Loon, C Hagman, Y Sznajer, C Barrea, C Galant, T Detaille, JA Wambach, FS Cole, A Hamvas, LS Prince, Karin Diderich, Alice Brooks, Rob Verdijk, H Ravindranathan, E Sugo, D Mowat, ML Baker, C Langston, S Welty, P Stankiewicz

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

102 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	801-811
Number of pages	11
Journal	Human Mutation
Volume	34
Issue number	6
DOIs	https://doi.org/10.1002/humu.22313
Publication status	Published - 2013

Research programs

EMC MGC-02-96-01
EMC MM-03-24-01

Access to Document

10.1002/humu.22313

http://hdl.handle.net/1765/68298

Cite this

Sen, P., Yang, YP., Navarro, C., De Silva, I., Szafranski, P., Kolodziejska, KE., Dharmadhikari, AV., Mostafa, H., Kozakewich, H., Kearney, D., Cahill, JB., Whitt, M., Bilic, M., Margraf, L., Charles, A., Goldblatt, J., Gibson, K., Lantz, PE., Garvin, AJ., ... Stankiewicz, P. (2013). Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain. Human Mutation, 34(6), 801-811. https://doi.org/10.1002/humu.22313

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title = "Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain",

author = "P Sen and YP Yang and C Navarro and {De Silva}, I and P Szafranski and KE Kolodziejska and AV Dharmadhikari and H Mostafa and H Kozakewich and D Kearney and JB Cahill and M Whitt and Marijana Bilic and L Margraf and A Charles and J Goldblatt and K Gibson and PE Lantz and AJ Garvin and J Petty and Z Kiblawi and C Zuppan and A McConkie-Rosell and MT McDonald and SL Peterson-Carmichael and JT Gaede and B Shivanna and D Schady and PS Friedlich and SR Hays and IV Palafoll and U Siebers-Renelt and A Bohring and LS Finn and JR Siebert and C Galambos and L Nguyen and M Riley and N Chassaing and A Vigouroux and G Rocha and S Fernandes and J Brumbaugh and K Roberts and HM Luk and IFM Lo and S Lam and R Gerychova and M Jezova and I Valaskova and F Fellmann and K Afshar and E Giannoni and V Muhlethaler and JL Liang and JS Beckmann and J Lioy and H Deshmukh and L Srinivasan and DT Swarr and M Sloman and C Shaw-Smith and {van Loon}, RL and C Hagman and Y Sznajer and C Barrea and C Galant and T Detaille and JA Wambach and FS Cole and A Hamvas and LS Prince and Karin Diderich and Alice Brooks and Rob Verdijk and H Ravindranathan and E Sugo and D Mowat and ML Baker and C Langston and S Welty and P Stankiewicz",

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doi = "10.1002/humu.22313",

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Sen, P, Yang, YP, Navarro, C, De Silva, I, Szafranski, P, Kolodziejska, KE, Dharmadhikari, AV, Mostafa, H, Kozakewich, H, Kearney, D, Cahill, JB, Whitt, M, Bilic, M, Margraf, L, Charles, A, Goldblatt, J, Gibson, K, Lantz, PE, Garvin, AJ, Petty, J, Kiblawi, Z, Zuppan, C, McConkie-Rosell, A, McDonald, MT, Peterson-Carmichael, SL, Gaede, JT, Shivanna, B, Schady, D, Friedlich, PS, Hays, SR, Palafoll, IV, Siebers-Renelt, U, Bohring, A, Finn, LS, Siebert, JR, Galambos, C, Nguyen, L, Riley, M, Chassaing, N, Vigouroux, A, Rocha, G, Fernandes, S, Brumbaugh, J, Roberts, K, Luk, HM, Lo, IFM, Lam, S, Gerychova, R, Jezova, M, Valaskova, I, Fellmann, F, Afshar, K, Giannoni, E, Muhlethaler, V, Liang, JL, Beckmann, JS, Lioy, J, Deshmukh, H, Srinivasan, L, Swarr, DT, Sloman, M, Shaw-Smith, C, van Loon, RL, Hagman, C, Sznajer, Y, Barrea, C, Galant, C, Detaille, T, Wambach, JA, Cole, FS, Hamvas, A, Prince, LS, Diderich, K , Brooks, A , Verdijk, R, Ravindranathan, H, Sugo, E, Mowat, D, Baker, ML, Langston, C, Welty, S & Stankiewicz, P 2013, 'Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain', Human Mutation, vol. 34, no. 6, pp. 801-811. https://doi.org/10.1002/humu.22313

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T1 - Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

AU - Sen, P

AU - Yang, YP

AU - Navarro, C

AU - De Silva, I

AU - Szafranski, P

AU - Kolodziejska, KE

AU - Dharmadhikari, AV

AU - Mostafa, H

AU - Kozakewich, H

AU - Kearney, D

AU - Cahill, JB

AU - Whitt, M

AU - Bilic, Marijana

AU - Margraf, L

AU - Charles, A

AU - Goldblatt, J

AU - Gibson, K

AU - Lantz, PE

AU - Garvin, AJ

AU - Petty, J

AU - Kiblawi, Z

AU - Zuppan, C

AU - McConkie-Rosell, A

AU - McDonald, MT

AU - Peterson-Carmichael, SL

AU - Gaede, JT

AU - Shivanna, B

AU - Schady, D

AU - Friedlich, PS

AU - Hays, SR

AU - Palafoll, IV

AU - Siebers-Renelt, U

AU - Bohring, A

AU - Finn, LS

AU - Siebert, JR

AU - Galambos, C

AU - Nguyen, L

AU - Riley, M

AU - Chassaing, N

AU - Vigouroux, A

AU - Rocha, G

AU - Fernandes, S

AU - Brumbaugh, J

AU - Roberts, K

AU - Luk, HM

AU - Lo, IFM

AU - Lam, S

AU - Gerychova, R

AU - Jezova, M

AU - Valaskova, I

AU - Fellmann, F

AU - Afshar, K

AU - Giannoni, E

AU - Muhlethaler, V

AU - Liang, JL

AU - Beckmann, JS

AU - Lioy, J

AU - Deshmukh, H

AU - Srinivasan, L

AU - Swarr, DT

AU - Sloman, M

AU - Shaw-Smith, C

AU - van Loon, RL

AU - Hagman, C

AU - Sznajer, Y

AU - Barrea, C

AU - Galant, C

AU - Detaille, T

AU - Wambach, JA

AU - Cole, FS

AU - Hamvas, A

AU - Prince, LS

AU - Diderich, Karin

AU - Brooks, Alice

AU - Verdijk, Rob

AU - Ravindranathan, H

AU - Sugo, E

AU - Mowat, D

AU - Baker, ML

AU - Langston, C

AU - Welty, S

AU - Stankiewicz, P

PY - 2013

Y1 - 2013

U2 - 10.1002/humu.22313

DO - 10.1002/humu.22313

M3 - Article

C2 - 23505205

SN - 1059-7794

VL - 34

SP - 801

EP - 811

JO - Human Mutation

JF - Human Mutation

IS - 6

ER -