Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression

Samantha Malka(Moorfields Eye Hospital NHS Foundation Trust), Radha Ayyagari(University of California San Diego), Hoai Viet Tran(Hôpital Ophtalmique Jules-Gonin), Carlo Rivolta(University of Lausanne), Jessica C. Gardner(University College London), Ana Berta Sousa(Administração Regional de Saúde de Lisboa e Vale do Tejo), Siying Lin(Moorfields Eye Hospital NHS Foundation Trust), Atta Ur Rehman(Abdul Wali Khan University Mardan), Javed Akram(University of the Punjab), Hafiz Muhammad Azhar Baig(Massachusetts Eye and Ear Infirmary), Luísa Coutinho Santos(Centro Hospitalar de Lisboa Ocidental), Pooja Biswas(University of California San Diego), Karolina Kamińska(University of Basel), Cristina Santos(Universidade Nova de Lisboa), Eric A. Pierce(Broad Institute), Matteo D’Antonio(University of California San Diego), Elena Schiff(University College London), Anjana Bhatia(University of California San Diego), Carmen Ayuso(Unknown), Omar A. Mahroo(King's College London), Alison J. Hardcastle(University College London), Mathieu Quinodoz(University of Leicester), Muhammad Ansar(Dow University of Health Sciences), Francesca Cancellieri(University of Basel), Michel Michaelides(Moorfields Eye Hospital), Gavin Arno(Greenwood Genetic Center), Emily Place(MACOM (United States)), Veronika Vaclavik(Hôpital Ophtalmique Jules-Gonin), Kelly A. Frazer(University of California San Diego), Muhammad Asif Naeem(University of the Punjab), Andrew R. Webster(Moorfields Eye Hospital), Shehla Javed Akram, J. Fielding Hejtmancik(Sun Yat-sen University), Mukhtar Ullah, Muhammad Iqbal(Islamia University of Bahawalpur), Sudeep Mehrotra(Massachusetts Eye and Ear Infirmary), Sheikh Riazuddin(Jinnah Postgraduate Medical Center), Xiaodong Jiao(National Institutes of Health), Anne-Marie Berry(University of California San Diego), Lori S. Sullivan(The University of Texas Health Science Center at Houston), Hiroko Matsui(University of California San Diego), A. Jestin(University College London), Kinga M. Bujakowska(Massachusetts Eye and Ear Infirmary), Genevieve Wright(Moorfields Eye Hospital NHS Foundation Trust), Riccardo Sangermano(Radboud University Nijmegen)
The American Journal of Human Genetics
August 26, 2024
Cited by 7


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