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ARVO Annual Meeting Abstract June 2021

Exploring the role of putative cis -regulatory variants within the 5’UTR of the ABCA4 gene in ~6,900 cases with inherited retinal disease

Alfredo Dueñas Rey; Muhammad Imran Khan; Mubeen Khan; Miriam Bauwens; Toon Rosseel; Dror Sharon; Robert K Koenekoop; Gavin Arno; Andrew Webster; Carmel Toomes; Claire-Marie Dhaenens; Frans P.M. Cremers; Elfride De Baere; Frauke Coppieters

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1451.

Articles December 2019

Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 Mutations

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Krunoslav T. Stingl; Laura Kuehlewein; Nicole Weisschuh; Saskia Biskup; Frans P. M. Cremers; M. Imran Khan; Carina Kelbsch; Tobias Peters; Marius Ueffing; Barbara Wilhelm; Eberhart Zrenner; Katarina Stingl
TAGS: eye, illness length, mutation, pupil reaction, retinitis pigmentosa
Trans. Vis. Sci. Tech.. 2019; 8(6):45. https://doi.org/10.1167/tvst.8.6.45

ARVO Annual Meeting Abstract July 2019

Identification of novel mutations in PITX2 gene in Pakistani and Mexican Families with Axenfeld-Rieger Syndrome

Valeria Lo Faro; Shazia Micheal; Sorath Noorani Siddiqu; Muhammad Imran Khan; Ellie L Wagstaff; Cristina Villanueva Mendoza; Nomdo M Jansonius; Arthur A Bergen

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5428.

ARVO Annual Meeting Abstract July 2019

Towards comprehensive identification and functional characterization of deep-intronic ABCA4 variants in 1000 Stargardt disease cases

Mubeen Khan; Stephanie Cornelis; Marta del Pozo Valero; Muhammad Imran Khan; Heidi Stohr; Felix Grassmann; Marloes Steehouwer; Alexander Hoischen; Carmen Ayuso; Raj Ramesar; Isabelle Anne Meunier; Sabine defoort; Bernhard HF Weber; Claire-Marie Dhaenens; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2813.

ARVO Annual Meeting Abstract July 2019

Next generation sequencing using molecular inversion probes in hereditary retinal disorders genes in Polish patients: an update

Anna M. Tracewska-Siemiatkowska; Joanna Murawska; Beata Kocyla-Karczmarewicz; Marek Szalinski; Agnieszka Rafalska; Malgorzata Rydzanicz; Piotr Stawinski; Elzbieta Ciara; Muhammad Imran Khan; Arjen Henkes; Alexander Hoischen; Christian Gilisen; Maartje van der Vorst; Frans P Cremers; Rafal Ploski; Krystyna Chrzanowska

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2941.

ARVO Annual Meeting Abstract July 2018

A frameshift mutation in RDH12 causes autosomal dominant retinitis pigmentosa in families of Tunisian Jewish origin

Boris Rosin; Prasanthi Namburi; Muhammad Imran Khan; Frans P Cremers; Eyal Banin; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1004.

ARVO Annual Meeting Abstract July 2018

Novel mutations in Polish patients with hereditary retinal disorders

Anna Maria Tracewska-Siemiatkowska; Joanna Murawska; Beata Kocyla-Karczmarewicz; Marek Szalinski; Malgorzata Rydzanicz; Piotr Stawinski; Muhammad Imran Khan; Alexander Hoischen; Christian Gilissen; Maartje van de Vorst; Frans P Cremers; Rafal Ploski; Krystyna Chrzanowska

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2324.

ARVO Annual Meeting Abstract September 2016

Identification of 23 novel candidate genes for inherited retinal diseases in the European Retinal Disease Consortium

Galuh D.N. Astuti; Tamar Ben-Yosef; Susanne Kohl; Rando Allikmets; Graeme C.M. Black; Shomi S Bhattacharya; Christian P Hamel; M Imran Khan; Lonneke Haer-Wigman; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12)

ARVO Annual Meeting Abstract September 2016

Molecular inversion probe based sequence analysis of 108 genes associated with non-syndromic inherited retinal disease in 4,000 probands

M Imran Khan; Gilissen Christian; Ayuso Carmen; Dror Sharon; Robert K Koenekoop; Carlo Rivolta; Elfride De Baere; Chris F Inglehearn; Alexander Hoischen; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12)

ARVO Annual Meeting Abstract June 2015

Identification of the causal variants for different inherited retinal phenotypes in a complex consanguineous family from Pakistan

Maleeha Maria; Maleeha Azam; Syeda Hafiza Benish Ali; Frans Cremers; Raheel Qamar; Muhammad Imran Khan; Lonneke Haer-Wigman

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2859.

ARVO Annual Meeting Abstract March 2012

CYP1B1 Mutations Cause Glaucoma in Pakistani and Saudi Arabian Patients

Shazia Micheal; Humaira Ayub; Muhammad Imran Khan; Farah Akhtar; Mahmood Ali; Robert K Koenekoop; Manal Hedrawi; Osama M Badeeb; Raheel Qamar; Anneke I den Hollander

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4499.

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