Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations (vol 34, pg 1537, 2013)

DS Mackay; AD Borman; R Sui; LI van den Born; EL Berson; LA Ocaka; AE Davidson; JR Heckenlively; K Branham; HN Ren; I Lopez; M De Maria; M Azam; A Henkes; E Blokland; S Andreasson; E De Baere; J Bennett; GJ Chader; W Berger; I Golovleva; J Greenberg; AI Hollander; Caroline Klaver; BJ Klevering; B Lorenz; MN Preising; R Ramesar; L Roberts; R Roepman; K Rohrschneider; B Wissinger; R Qamar; AR Webster; FPM Cremers; AT Moore; RK Koenekoop

doi:10.1002/humu.22467

Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations (vol 34, pg 1537, 2013)

DS Mackay, AD Borman, R Sui, LI van den Born, EL Berson, LA Ocaka, AE Davidson, JR Heckenlively, K Branham, HN Ren, I Lopez, M De Maria, M Azam, A Henkes, E Blokland, S Andreasson, E De Baere, J Bennett, GJ Chader, W BergerI Golovleva, J Greenberg, AI Hollander, Caroline Klaver, BJ Klevering, B Lorenz, MN Preising, R Ramesar, L Roberts, R Roepman, K Rohrschneider, B Wissinger, R Qamar, AR Webster, FPM Cremers, AT Moore, RK Koenekoop

Ophthalmology

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

Original language	Undefined/Unknown
Pages (from-to)	150-150
Number of pages	1
Journal	Human Mutation
Volume	35
Issue number	1
DOIs	https://doi.org/10.1002/humu.22467
Publication status	Published - 2014

Access to Document

10.1002/humu.22467

Cite this

Mackay, DS., Borman, AD., Sui, R., van den Born, LI., Berson, EL., Ocaka, LA., Davidson, AE., Heckenlively, JR., Branham, K., Ren, HN., Lopez, I., De Maria, M., Azam, M., Henkes, A., Blokland, E., Andreasson, S., De Baere, E., Bennett, J., Chader, GJ., ... Koenekoop, RK. (2014). Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations (vol 34, pg 1537, 2013). Human Mutation, 35(1), 150-150. https://doi.org/10.1002/humu.22467

Mackay, DS ; Borman, AD ; Sui, R ; van den Born, LI ; Berson, EL ; Ocaka, LA ; Davidson, AE ; Heckenlively, JR ; Branham, K ; Ren, HN ; Lopez, I ; De Maria, M ; Azam, M ; Henkes, A ; Blokland, E ; Andreasson, S ; De Baere, E ; Bennett, J ; Chader, GJ ; Berger, W ; Golovleva, I ; Greenberg, J ; Hollander, AI ; Klaver, Caroline ; Klevering, BJ ; Lorenz, B ; Preising, MN ; Ramesar, R ; Roberts, L ; Roepman, R ; Rohrschneider, K ; Wissinger, B ; Qamar, R ; Webster, AR ; Cremers, FPM ; Moore, AT ; Koenekoop, RK. / Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations (vol 34, pg 1537, 2013). In: Human Mutation. 2014 ; Vol. 35, No. 1. pp. 150-150.

@article{79dc78dfb0d74d64b5a0334a383bda74,

title = "Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations (vol 34, pg 1537, 2013)",

author = "DS Mackay and AD Borman and R Sui and {van den Born}, LI and EL Berson and LA Ocaka and AE Davidson and JR Heckenlively and K Branham and HN Ren and I Lopez and {De Maria}, M and M Azam and A Henkes and E Blokland and S Andreasson and {De Baere}, E and J Bennett and GJ Chader and W Berger and I Golovleva and J Greenberg and AI Hollander and Caroline Klaver and BJ Klevering and B Lorenz and MN Preising and R Ramesar and L Roberts and R Roepman and K Rohrschneider and B Wissinger and R Qamar and AR Webster and FPM Cremers and AT Moore and RK Koenekoop",

year = "2014",

doi = "10.1002/humu.22467",

language = "Undefined/Unknown",

volume = "35",

pages = "150--150",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "Wiley-Liss Inc.",

number = "1",

}

Mackay, DS, Borman, AD, Sui, R, van den Born, LI, Berson, EL, Ocaka, LA, Davidson, AE, Heckenlively, JR, Branham, K, Ren, HN, Lopez, I, De Maria, M, Azam, M, Henkes, A, Blokland, E, Andreasson, S, De Baere, E, Bennett, J, Chader, GJ, Berger, W, Golovleva, I, Greenberg, J, Hollander, AI, Klaver, C, Klevering, BJ, Lorenz, B, Preising, MN, Ramesar, R, Roberts, L, Roepman, R, Rohrschneider, K, Wissinger, B, Qamar, R, Webster, AR, Cremers, FPM, Moore, AT & Koenekoop, RK 2014, 'Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations (vol 34, pg 1537, 2013)', Human Mutation, vol. 35, no. 1, pp. 150-150. https://doi.org/10.1002/humu.22467

Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations (vol 34, pg 1537, 2013). / Mackay, DS; Borman, AD; Sui, R; van den Born, LI; Berson, EL; Ocaka, LA; Davidson, AE; Heckenlively, JR; Branham, K; Ren, HN; Lopez, I; De Maria, M; Azam, M; Henkes, A; Blokland, E; Andreasson, S; De Baere, E; Bennett, J; Chader, GJ; Berger, W; Golovleva, I; Greenberg, J; Hollander, AI; Klaver, Caroline; Klevering, BJ; Lorenz, B; Preising, MN; Ramesar, R; Roberts, L; Roepman, R; Rohrschneider, K; Wissinger, B; Qamar, R; Webster, AR; Cremers, FPM; Moore, AT; Koenekoop, RK.

In: Human Mutation, Vol. 35, No. 1, 2014, p. 150-150.

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

TY - JOUR

T1 - Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations (vol 34, pg 1537, 2013)

AU - Mackay, DS

AU - Borman, AD

AU - Sui, R

AU - van den Born, LI

AU - Berson, EL

AU - Ocaka, LA

AU - Davidson, AE

AU - Heckenlively, JR

AU - Branham, K

AU - Ren, HN

AU - Lopez, I

AU - De Maria, M

AU - Azam, M

AU - Henkes, A

AU - Blokland, E

AU - Andreasson, S

AU - De Baere, E

AU - Bennett, J

AU - Chader, GJ

AU - Berger, W

AU - Golovleva, I

AU - Greenberg, J

AU - Hollander, AI

AU - Klaver, Caroline

AU - Klevering, BJ

AU - Lorenz, B

AU - Preising, MN

AU - Ramesar, R

AU - Roberts, L

AU - Roepman, R

AU - Rohrschneider, K

AU - Wissinger, B

AU - Qamar, R

AU - Webster, AR

AU - Cremers, FPM

AU - Moore, AT

AU - Koenekoop, RK

PY - 2014

Y1 - 2014

U2 - 10.1002/humu.22467

DO - 10.1002/humu.22467

M3 - Article

VL - 35

SP - 150

EP - 150

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 1

ER -