Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa (DOI:10.1016/j.ajhg.2009.02.005)

Hui Wang; Anneke I. den Hollander; Yalda Moayedi; Abuduaini Abulimiti; Yumei Li; Rob W.J. Collin; Carel B. Hoyng; Irma Lopez; Emad B. Abboud; Ali A. Al-Rajhi; Molly Bray; Richard Alan Lewis; James R. Lupski; Graeme Mardon; Robert K. Koenekoop; Rui Chen

doi:10.1016/j.ajhg.2010.01.002

Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa (DOI:10.1016/j.ajhg.2009.02.005)

Hui Wang, Anneke I. den Hollander, Yalda Moayedi, Abuduaini Abulimiti, Yumei Li, Rob W.J. Collin, Carel B. Hoyng, Irma Lopez, Emad B. Abboud, Ali A. Al-Rajhi, Molly Bray, Richard Alan Lewis, James R. Lupski, Graeme Mardon, Robert K. Koenekoop, Rui Chen

Molecular Pathobiology

Research output: Contribution to journal › Comment/debate › peer-review

Original language	English (US)
Pages (from-to)	293
Number of pages	1
Journal	American Journal of Human Genetics
Volume	86
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2010.01.002
State	Published - Feb 12 2010

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Access to Document

10.1016/j.ajhg.2010.01.002

Cite this

Wang, H., den Hollander, A. I., Moayedi, Y., Abulimiti, A., Li, Y., Collin, R. W. J., Hoyng, C. B., Lopez, I., Abboud, E. B., Al-Rajhi, A. A., Bray, M., Lewis, R. A., Lupski, J. R., Mardon, G., Koenekoop, R. K., & Chen, R. (2010). Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa (DOI:10.1016/j.ajhg.2009.02.005). American Journal of Human Genetics, 86(2), 293. https://doi.org/10.1016/j.ajhg.2010.01.002

Wang, H, den Hollander, AI, Moayedi, Y, Abulimiti, A, Li, Y, Collin, RWJ, Hoyng, CB, Lopez, I, Abboud, EB, Al-Rajhi, AA, Bray, M, Lewis, RA, Lupski, JR, Mardon, G, Koenekoop, RK & Chen, R 2010, 'Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa (DOI:10.1016/j.ajhg.2009.02.005)', American Journal of Human Genetics, vol. 86, no. 2, pp. 293. https://doi.org/10.1016/j.ajhg.2010.01.002

@article{efd12afda940402c8b3abf1b15964efa,

title = "Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa (DOI:10.1016/j.ajhg.2009.02.005)",

author = "Hui Wang and {den Hollander}, {Anneke I.} and Yalda Moayedi and Abuduaini Abulimiti and Yumei Li and Collin, {Rob W.J.} and Hoyng, {Carel B.} and Irma Lopez and Abboud, {Emad B.} and Al-Rajhi, {Ali A.} and Molly Bray and Lewis, {Richard Alan} and Lupski, {James R.} and Graeme Mardon and Koenekoop, {Robert K.} and Rui Chen",

note = "Funding Information: We thank Huawei Xin for his help throughout this project and his useful comments for the preparation of the manuscript. We are indebted to Dr. John Cavender, Dr. Bill Astle, Dr. Mohamad Jaafar, and Mr. Monzer Jabak R.N. at the time of these studies, to the Research Council of KKESH for its financial support, and to the staff of its Research Department for their diligent commitment to this program. In addition, we thank the families reported here for their willing cooperation with these studies. Dr. Lewis is a Senior Scientific Investigator of Research to Prevent Blindness, New York. We also thank Frans Cremers for his valuable discussions and Lara Bou-Khzam for her technical assistance. This work is supported by grants from the Retinal Research Foundation and National Eye Institute (R01EY018571) to R.C. R.K.K. is supported by the Foundation Fighting Blindness Canada and the Fonds de la Recherche en Santee du Quebec (FRSQ). A.I.dH. is supported by grants from the Netherlands Organisation for Scientific Research (916.56.160) and the Foundation Fighting Blindness USA (BR-GE-0606-0349-RAD).",

year = "2010",

month = feb,

day = "12",

doi = "10.1016/j.ajhg.2010.01.002",

language = "English (US)",

volume = "86",

pages = "293",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "2",

}

TY - JOUR

T1 - Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa (DOI:10.1016/j.ajhg.2009.02.005)

AU - Wang, Hui

AU - den Hollander, Anneke I.

AU - Moayedi, Yalda

AU - Abulimiti, Abuduaini

AU - Li, Yumei

AU - Collin, Rob W.J.

AU - Hoyng, Carel B.

AU - Lopez, Irma

AU - Abboud, Emad B.

AU - Al-Rajhi, Ali A.

AU - Bray, Molly

AU - Lewis, Richard Alan

AU - Lupski, James R.

AU - Mardon, Graeme

AU - Koenekoop, Robert K.

AU - Chen, Rui

N1 - Funding Information: We thank Huawei Xin for his help throughout this project and his useful comments for the preparation of the manuscript. We are indebted to Dr. John Cavender, Dr. Bill Astle, Dr. Mohamad Jaafar, and Mr. Monzer Jabak R.N. at the time of these studies, to the Research Council of KKESH for its financial support, and to the staff of its Research Department for their diligent commitment to this program. In addition, we thank the families reported here for their willing cooperation with these studies. Dr. Lewis is a Senior Scientific Investigator of Research to Prevent Blindness, New York. We also thank Frans Cremers for his valuable discussions and Lara Bou-Khzam for her technical assistance. This work is supported by grants from the Retinal Research Foundation and National Eye Institute (R01EY018571) to R.C. R.K.K. is supported by the Foundation Fighting Blindness Canada and the Fonds de la Recherche en Santee du Quebec (FRSQ). A.I.dH. is supported by grants from the Netherlands Organisation for Scientific Research (916.56.160) and the Foundation Fighting Blindness USA (BR-GE-0606-0349-RAD).

PY - 2010/2/12

Y1 - 2010/2/12

UR - http://www.scopus.com/inward/record.url?scp=76049112370&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=76049112370&partnerID=8YFLogxK

U2 - 10.1016/j.ajhg.2010.01.002

DO - 10.1016/j.ajhg.2010.01.002

M3 - Comment/debate

AN - SCOPUS:76049112370

SN - 0002-9297

VL - 86

SP - 293

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 2

ER -

Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa (DOI:10.1016/j.ajhg.2009.02.005)

ASJC Scopus subject areas

Access to Document

Other files and links

Cite this