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ARVO Annual Meeting Abstract June 2025

Age Estimation of TMEM216 c.-69G>A and c.-69G>T Mutations in Pakistani and African Populations Affected by Non-Syndromic Retinitis Pigmentosa

Shiwali Goyal; Xiaodong Jiao; Pooja Biswas; Siying Lin; Samantha Malka; Mukhtar Ullah; Mathieu Quinodoz; S Amer Riazuddin; Gavin Arno; Muhammad Ansar; Carlo Rivolta; Radha Ayyagari; Andrew Webster; James Fielding Hejtmancik

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):3137.

ARVO Annual Meeting Abstract June 2025

RetiGene: A Comprehensive Gene Atlas for Inherited Retinal Diseases (IRDs)

Elifnaz Celik; Mathieu Quinodoz; Dhryata Kamdar; Francesca Cancellieri; Karolina Kaminska; Mukhtar Ullah; Gema García Garcia; Virginie Gisèle Peter; Marianthi Karali; Nina Schneider; José M. Millán; Robert K Koenekoop; Frauke Coppieters; Carmel Toomes; Chris Ingelhearn; Vasiliki Kalatzis; Beatrice Bocquet; Dror Sharon; Sandro Banfi; Carmen Ayuso; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):5125.

ARVO Annual Meeting Abstract June 2025

Recurrent inherited and de novo variants in U4 and U6 snRNAs underlie retinitis pigmentosa in 58 families

Kim Rodenburg; Mathieu Quinodoz; Suzanne de Bruijn; Karolina Kaminska; Zuzana Cvackova; Erica Boonen; Ana Belen Iglesias Romero; Nick Zomer; Marc Folcher; Mukhtar Ullah; Chaim Landau; Allan I Jacob; Stephen H Tsang; Jacques Bijon; K Bailey Freund; Winston Lee; Frans P Cremers; Jamie M Ellingford; David Staněk; Susanne Roosing; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):1925.

ARVO Annual Meeting Abstract June 2024

Identification of novel candidate genes for inherited retinal disorders in consanguineous families from Pakistan and Iran

Helen Nabiryo Frederiksen; Asad Munir; Ijaz Anwar; Sergey Oreshkov; Ainee Zafar; Ruth Choung; Abdur Rashid; Mukhtar Ullah; Asad Umar; Shumaila Zulfiqar; Humera Kausar; Fatemeh Suri; Atta Ur Rehman; Stylianos E. Antonarakis; Muhammad Ansar

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1520.

ARVO Annual Meeting Abstract June 2024

Identification and evaluation of a non-coding variant located in the 5'-UTR of TMEM216 as an underlying cause of non-syndromic recessive retinal degeneration (RD) in Pakistani families.

Anne Marie Berry; Pooja Biswas; Gavin Arno; Mathieu Quinodoz; Riccardo Sangermano; Jiao Xiaodong; Mukhtar Ullah; Alison J Hardcastle; Kelly A Frazer; James Fielding Hejtmancik; Matteo D'Antonio; S. Amer Riazuddin; Carlo Rivolta; Kinga Maria Bujakowska; Andrew R Webster; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5287.

ARVO Annual Meeting Abstract June 2023

A missense mutation in SLC6A6 impairs taurine transport and results in Leber congenital amaurosis with short cardiac atrioventricular conduction time

Mukhtar Ullah; Mathieu Quinodoz; Atta Ur Rehman; Madhur Shetty; Rosalie Grijalva; Giacomo Calzetti; Abdur Rashid; Sanaullah Jan; Alessandra Pia Porretta; L. Keith Henry; Andrea Superti-Furga; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4529.

ARVO Annual Meeting Abstract June 2022

Genetic causes of congenital cataract in consanguineous pedigrees from Pakistan

Mukhtar Ullah; Saba Irshad; Hafiz Muhammad Azhar Baig; Neelam Saba; Sana Gulzar; Sadia Parveen; Ji Hoon Han; Mathieu Quinodoz; Ansar Muhammad; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):486 – A0063.

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