Siying Lin

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 10

Top Topics

Escherichia Coli

Diabetic Retinopathy

Top Venues

NPJ genomic medicine

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

William Woof, Thales Antonio Cabral de Guimaraes, Saoud Al-Khuzaei, Malena Daich Varela, Sagnik Sen, Pallavi Bagga, Bernardo Mendes, Mital Shah, Paula Burke, David Parry, Siying Lin, Gunjan Naik, Biraja Ghoshal, Bart Liefers, Dun Jack Fu, Michalis Georgiou, Quang Nguyen, Alan Sousa da Silva, Yichen Liu, Yu Fujinami-Yokokawa, Nathaniel Kabiri, Dayyanah Sumodhee, Praveen J Patel, Jennifer Furman, Ismail Moghul, Juliana Maria Ferraz Sallum, Samantha Roshani De Silva, Birgit Lorenz, Frank G Holz, Kaoru Fujinami, Andrew R Webster, Omar A Mahroo, Susan M Downes, Savita Madhusudhan, Konstantinos Balaskas, Michel Michaelides, Nikolas Pontikos
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3000 Inherited Retinal Disease Patients from the United Kingdom. medRxiv : the preprint server for health sciences (2024)
Shwetha Chandrasekhar, Siying Lin, Neringa Jurkute, Kathryn Oprych, Leire Estramiana Elorrieta, Elena R Schiff, Samantha Malka, Genevieve Wright, Michel Michaelides, Omar A Mahroo, Andrew R Webster, Gavin Arno
Investigating Splice Defects in USH2A Using Targeted Long-Read Sequencing. Cells 13 (15) (2024)
Shwetha Chandrasekhar, Siying Lin, Neringa Jurkute, Kathryn Oprych, Leire Estramiana Elorrieta, Elena R Schiff, Samantha Malka, Genevieve Wright, Michel Michaelides, Omar A Mahroo, Andrew R Webster, Gavin Arno
Investigating Splice Defects in USH2A Using Targeted Long-Read Sequencing. Cells 13 (15) (2024)
Shwetha Chandrasekhar, Siying Lin, Neringa Jurkute, Kathryn Oprych, Leire Estramiana Elorrieta, Elena R Schiff, Samantha Malka, Genevieve Wright, Michel Michaelides, Omar A Mahroo, Andrew R Webster, Gavin Arno
Investigating Splice Defects in USH2A Using Targeted Long-Read Sequencing. Cells 13 (15) (2024)
Siying Lin, Aida Sanchez-Bretaño, Joseph S Leslie, Katie B Williams, Helena Lee, N Simon Thomas, Jonathan Callaway, James Deline, J Arjuna Ratnayaka, Diana Baralle, Melanie A Schmitt, Chelsea S Norman, Sheri Hammond, Gaurav V Harlalka, Sarah Ennis, Harold E Cross, Olivia Wenger, Andrew H Crosby, Andrew H Crosby, James E Self
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B). NPJ genomic medicine 7 (1) (2022)
Siying Lin, James Fasham, Fida' Al-Hijawi, Nouar Qutob, Adam Gunning, Joseph S Leslie, Lucy McGavin, Nishanka Ubeyratna, Wisam Baker, Ramez Zeid, Peter D Turnpenny, Andrew H Crosby, Andrew H Crosby, Reham Khalaf-Nazzal
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency. European journal of human genetics : EJHG 29 (10) (2021)
Muhammad Shakil, Gaurav V Harlalka, Shamshad Ali, Siying Lin, Ilaria D'Atri, Shabbir Hussain, Abdul Nasir, Muhammad Aiman Shahzad, Muhammad Ikram Ullah, Jay E Self, Emma L Baple, Andrew H Crosby, Saqib Mahmood
Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families. Eye (London, England) 33 (8) (2019)
James Fasham, Gavin Arno, Siying Lin, Mingchu Xu, Keren J Carss, Sarah Hull, Amelia Lane, Anthony G Robson, Olivia Wenger, Jay E Self, Gaurav V Harlalka, Claire G Salter, Lynn Schema, Timothy J Moss, Michael E Cheetham, Anthony T Moore, F Lucy Raymond, Rui Chen, Andrew H Crosby, Andrew R Webster, Andrew H Crosby, null null
Delineating the expanding phenotype associated with SCAPER gene mutation. American journal of medical genetics. Part A 179 (8) (2019)
Lin Li, Xiaodong Jiao, Ilaria D'Atri, Fumihito Ono, Ralph F Nelson, Chi-Chao Chan, Naoki Nakaya, Zhiwei Ma, Yan Ma, Xiaoying Cai, Longhua Zhang, Siying Lin, Abdul Hameed, Barry A Chioza, Holly Hardy, Gavin Arno, Sarah Hull, Muhammad Imran Khan, James Fasham, Gaurav V Harlalka, Michel Michaelides, Anthony T Moore, Zeynep Hande Coban Akdemir, Shalini Jhangiani, James R Lupski, Frans P M Cremers, Raheel Qamar, Ahmed Salman, John Chilton, James E Self, Radha Ayyagari, Firoz Kabir, Muhammad Asif Naeem, Muhammad Ali, Javed Akram, Paul A Sieving, Sheikh Riazuddin, Emma L Baple, S Amer Riazuddin, Andrew H Crosby, J Fielding Hejtmancik
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS genetics 14 (8) (2018)
Siying Lin, Bhaskar Gupta, Natalee James, Roland H Ling
Visual impairment certification due to diabetic retinopathy in North and Eastern Devon. Acta ophthalmologica 95 (8) (2017)