Ghent University Academic Bibliography

Your filters: cql: author="Ali, Manir" or (type any "bookEditor issueEditor" and editor="Ali, Manir")

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- Journal Article
- A1
- open access
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Daan M. Panneman, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere (UGent) , et al.

(2023) FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY. 11.
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- Journal Article
- A1
- open access
New variants and in silico analyses in GRK1 associated Oguchi disease

James A. Poulter, Molly S. C. Gravett, Rachel L. Taylor, Kaoru Fujinami, Julie De Zaeytijd (UGent) , James Bellingham, Atta Ur Rehman, Takaaki Hayashi, Mineo Kondo, Abdur Rehman, et al.

(2021) HUMAN MUTATION. 42(2). p.164-176
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- Journal Article
- A1
- open access
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

Stijn Van de Sompele (UGent) , Claire Smith, Marianthi Karali, Marta Corton, Kristof Van Schil (UGent) , Frank Peelman (UGent) , Timothy Cherry, Toon Rosseel (UGent) , Hannah Verdin (UGent) , Julien Derolez, et al.

(2019) GENETICS IN MEDICINE. 21(6). p.1319-1329
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- Conference Paper
- C3
Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease

Stijn Van de Sompele (UGent) , Claire Smith, Marianthi Karali, Marta Corton, Kristof Van Schil (UGent) , Frank Peelman (UGent) , Timothy Cherry, Toon Rosseel (UGent) , Hannah Verdin (UGent) , Julien Derolez, et al.

(2018) American Society of Human Genetics, Annual meeting, Abstracts.
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Disease expression in autosomal recessive retinal dystrophy associated with mutations in the DRAM2 gene

Panagiotis I Sergouniotis, Martin McKibbin, Anthony G Robson, Hanno J Bolz, Elfride De Baere (UGent) , Philipp L Müller, Raoul Heller, Mohammed E El-Asrag, Kristof Van Schil (UGent) , Vincent Plagnol, et al.

(2015) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 56(13). p.8083-8090
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Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement

Mohammed E El-Asrag, Panagiotis I Sergouniotis, Martin McKibbin, Vincent Plagnol, Eamonn Sheridan, Naushin Waseem, Zakia Abdelhamed, Declan McKeefry, Kristof Van Schil (UGent) , James A Poulter, et al.

(2015) AMERICAN JOURNAL OF HUMAN GENETICS. 96(6). p.948-954

Academic Bibliography

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

New variants and in silico analyses in GRK1 associated Oguchi disease

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease

Disease expression in autosomal recessive retinal dystrophy associated with mutations in the DRAM2 gene

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement

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