Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848

M Koczkowska; YJ (Yuan Jia) Chen; T Callens; A Gomes; A Sharp; S Johnson; MC Hsiao; ZB Chen; M Balasubramanian; CP Barnett; TA Becker; S Ben-Shachar; DR Bertola; JO Blakeley; EMM Burkitt-Wright; A Callaway; M Crenshaw; KS Cunha; M Cunningham; MD D'Agostino; K Dahan; A Luca; A Destree; R Dhamija; M Eoli; DGR Evans; P Galvin-Parton; JK George-Abraham; KW Gripp; J Guevara-Campos; NA Hanchard; C Hernandez-Chico; L Immken; S Janssens; KJ Jones; BA Keena; A Kochhar; J Liebelt; A Martir-Negron; MJ Mahoney; I Maystadt; C McDougall; M McEntagart; N Mendelsohn; DT Miller; G Mortier; J Morton; J Pappas; SR Plotkin; D Pond; K Rosenbaum; K Rubin; L Russell; LS Rutledge; V Saletti; R Schonberg; A Schreiber; M Seidel; E Siqveland; DW Stockton; E Trevisson; NJ Ullrich; M Upadhyaya; Rick van Minkelen; H Verhelst; MR Wallace; YS Yap; E Zackai; J Zonana; V Zurcher; K Claes; Y Martin; BR Korf; E Legius; LM Messiaen

doi:10.1016/j.ajhg.2017.12.001

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848

M Koczkowska, YJ (Yuan Jia) Chen, T Callens, A Gomes, A Sharp, S Johnson, MC Hsiao, ZB Chen, M Balasubramanian, CP Barnett, TA Becker, S Ben-Shachar, DR Bertola, JO Blakeley, EMM Burkitt-Wright, A Callaway, M Crenshaw, KS Cunha, M Cunningham, MD D'AgostinoK Dahan, A Luca, A Destree, R Dhamija, M Eoli, DGR Evans, P Galvin-Parton, JK George-Abraham, KW Gripp, J Guevara-Campos, NA Hanchard, C Hernandez-Chico, L Immken, S Janssens, KJ Jones, BA Keena, A Kochhar, J Liebelt, A Martir-Negron, MJ Mahoney, I Maystadt, C McDougall, M McEntagart, N Mendelsohn, DT Miller, G Mortier, J Morton, J Pappas, SR Plotkin, D Pond, K Rosenbaum, K Rubin, L Russell, LS Rutledge, V Saletti, R Schonberg, A Schreiber, M Seidel, E Siqveland, DW Stockton, E Trevisson, NJ Ullrich, M Upadhyaya, Rick van Minkelen, H Verhelst, MR Wallace, YS Yap, E Zackai, J Zonana, V Zurcher, K Claes, Y Martin, BR Korf, E Legius, LM Messiaen

Clinical Genetics

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Original language	Undefined/Unknown
Pages (from-to)	69-87
Number of pages	19
Journal	American Journal of Human Genetics
Volume	102
Issue number	1
DOIs	https://doi.org/10.1016/j.ajhg.2017.12.001
Publication status	Published - 2018

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Cite this

Koczkowska, M., Chen, YJ., Callens, T., Gomes, A., Sharp, A., Johnson, S., Hsiao, MC., Chen, ZB., Balasubramanian, M., Barnett, CP., Becker, TA., Ben-Shachar, S., Bertola, DR., Blakeley, JO., Burkitt-Wright, EMM., Callaway, A., Crenshaw, M., Cunha, KS., Cunningham, M., ... Messiaen, LM. (2018). Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. American Journal of Human Genetics, 102(1), 69-87. https://doi.org/10.1016/j.ajhg.2017.12.001

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title = "Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848",

author = "M Koczkowska and Chen, {YJ (Yuan Jia)} and T Callens and A Gomes and A Sharp and S Johnson and MC Hsiao and ZB Chen and M Balasubramanian and CP Barnett and TA Becker and S Ben-Shachar and DR Bertola and JO Blakeley and EMM Burkitt-Wright and A Callaway and M Crenshaw and KS Cunha and M Cunningham and MD D'Agostino and K Dahan and A Luca and A Destree and R Dhamija and M Eoli and DGR Evans and P Galvin-Parton and JK George-Abraham and KW Gripp and J Guevara-Campos and NA Hanchard and C Hernandez-Chico and L Immken and S Janssens and KJ Jones and BA Keena and A Kochhar and J Liebelt and A Martir-Negron and MJ Mahoney and I Maystadt and C McDougall and M McEntagart and N Mendelsohn and DT Miller and G Mortier and J Morton and J Pappas and SR Plotkin and D Pond and K Rosenbaum and K Rubin and L Russell and LS Rutledge and V Saletti and R Schonberg and A Schreiber and M Seidel and E Siqveland and DW Stockton and E Trevisson and NJ Ullrich and M Upadhyaya and {van Minkelen}, Rick and H Verhelst and MR Wallace and YS Yap and E Zackai and J Zonana and V Zurcher and K Claes and Y Martin and BR Korf and E Legius and LM Messiaen",

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Koczkowska, M, Chen, YJ, Callens, T, Gomes, A, Sharp, A, Johnson, S, Hsiao, MC, Chen, ZB, Balasubramanian, M, Barnett, CP, Becker, TA, Ben-Shachar, S, Bertola, DR, Blakeley, JO, Burkitt-Wright, EMM, Callaway, A, Crenshaw, M, Cunha, KS, Cunningham, M, D'Agostino, MD, Dahan, K, Luca, A, Destree, A, Dhamija, R, Eoli, M, Evans, DGR, Galvin-Parton, P, George-Abraham, JK, Gripp, KW, Guevara-Campos, J, Hanchard, NA, Hernandez-Chico, C, Immken, L, Janssens, S, Jones, KJ, Keena, BA, Kochhar, A, Liebelt, J, Martir-Negron, A, Mahoney, MJ, Maystadt, I, McDougall, C, McEntagart, M, Mendelsohn, N, Miller, DT, Mortier, G, Morton, J, Pappas, J, Plotkin, SR, Pond, D, Rosenbaum, K, Rubin, K, Russell, L, Rutledge, LS, Saletti, V, Schonberg, R, Schreiber, A, Seidel, M, Siqveland, E, Stockton, DW, Trevisson, E, Ullrich, NJ, Upadhyaya, M, van Minkelen, R, Verhelst, H, Wallace, MR, Yap, YS, Zackai, E, Zonana, J, Zurcher, V, Claes, K, Martin, Y, Korf, BR, Legius, E & Messiaen, LM 2018, 'Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848', American Journal of Human Genetics, vol. 102, no. 1, pp. 69-87. https://doi.org/10.1016/j.ajhg.2017.12.001

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T1 - Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848

AU - Koczkowska, M

AU - Chen, YJ (Yuan Jia)

AU - Callens, T

AU - Gomes, A

AU - Sharp, A

AU - Johnson, S

AU - Hsiao, MC

AU - Chen, ZB

AU - Balasubramanian, M

AU - Barnett, CP

AU - Becker, TA

AU - Ben-Shachar, S

AU - Bertola, DR

AU - Blakeley, JO

AU - Burkitt-Wright, EMM

AU - Callaway, A

AU - Crenshaw, M

AU - Cunha, KS

AU - Cunningham, M

AU - D'Agostino, MD

AU - Dahan, K

AU - Luca, A

AU - Destree, A

AU - Dhamija, R

AU - Eoli, M

AU - Evans, DGR

AU - Galvin-Parton, P

AU - George-Abraham, JK

AU - Gripp, KW

AU - Guevara-Campos, J

AU - Hanchard, NA

AU - Hernandez-Chico, C

AU - Immken, L

AU - Janssens, S

AU - Jones, KJ

AU - Keena, BA

AU - Kochhar, A

AU - Liebelt, J

AU - Martir-Negron, A

AU - Mahoney, MJ

AU - Maystadt, I

AU - McDougall, C

AU - McEntagart, M

AU - Mendelsohn, N

AU - Miller, DT

AU - Mortier, G

AU - Morton, J

AU - Pappas, J

AU - Plotkin, SR

AU - Pond, D

AU - Rosenbaum, K

AU - Rubin, K

AU - Russell, L

AU - Rutledge, LS

AU - Saletti, V

AU - Schonberg, R

AU - Schreiber, A

AU - Seidel, M

AU - Siqveland, E

AU - Stockton, DW

AU - Trevisson, E

AU - Ullrich, NJ

AU - Upadhyaya, M

AU - van Minkelen, Rick

AU - Verhelst, H

AU - Wallace, MR

AU - Yap, YS

AU - Zackai, E

AU - Zonana, J

AU - Zurcher, V

AU - Claes, K

AU - Martin, Y

AU - Korf, BR

AU - Legius, E

AU - Messiaen, LM

PY - 2018

Y1 - 2018

U2 - 10.1016/j.ajhg.2017.12.001

DO - 10.1016/j.ajhg.2017.12.001

M3 - Article

C2 - 29290338

SN - 0002-9297

VL - 102

SP - 69

EP - 87

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 1

ER -