Delineation of Novel Compound Heterozygous Variants in LTBP2 Associated with Juvenile Open Angle Glaucoma

por Saeedi, Osamah, Yousaf, Sairah, Tsai, Joby, Palmer, Kathleen, Riazuddin, Saima, Ahmed, Zubair M.
Publicado 2018

PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults

por Daich Varela, Malena, Ullah, Ehsan, Yousaf, Sairah, Brooks, Brian P., Hufnagel, Robert B., Huryn, Laryssa A.
Publicado 2020

Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts

por Hassan, Abdullah Y., Yousaf, Sairah, Levin, Moran R., Saeedi, Osamah J., Riazuddin, Saima, Alexander, Janet L., Ahmed, Zubair M.
Publicado 2021

Transcriptional mapping of the macaque retina and RPE-choroid reveals conserved inter-tissue transcription drivers and signaling pathways

por Mungale, Ameera, McGaughey, David M., Zhang, Congxiao, Yousaf, Sairah, Liu, James, Brooks, Brian P., Maminishkis, Arvydas, Fufa, Temesgen D., Hufnagel, Robert B.
Publicado 2022

Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families

por Yousaf, Sairah, Tariq, Nabeela, Sajid, Zureesha, Sheikh, Shakeel A., Kausar, Tasleem, Waryah, Yar M., Shaikh, Rehan S., Waryah, Ali M., Sethna, Saumil, Riazuddin, Saima, Ahmed, Zubair M.
Publicado 2022

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population

por Shahzad, Mohsin, Yousaf, Sairah, Waryah, Yar M., Gul, Hadia, Kausar, Tasleem, Tariq, Nabeela, Mahmood, Umair, Ali, Muhammad, Khan, Muzammil A., Waryah, Ali M., Shaikh, Rehan S., Riazuddin, Saima, Ahmed, Zubair M.
Publicado 2017

Genetic Causes of Oculocutaneous Albinism in Pakistani Population

por Sajid, Zureesha, Yousaf, Sairah, Waryah, Yar M., Mughal, Tauqeer A., Kausar, Tasleem, Shahzad, Mohsin, Rao, Ali R., Abbasi, Ansar A., Shaikh, Rehan S., Waryah, Ali M., Riazuddin, Saima, Ahmed, Zubair M.
Publicado 2021

Identities and frequencies of variants in CYP1B1 causing primary congenital glaucoma in Pakistan

por Rashid, Muhammad, Yousaf, Sairah, Sheikh, Shakeel A., Sajid, Zureesha, Shabbir, Asra S., Kausar, Tasleem, Tariq, Nabeela, Usman, Muhammad, Shaikh, Rehan S., Ali, Muhammad, Bukhari, Shazia A., Waryah, Ali M., Qasim, Muhammad, Riazuddin, Saima, Ahmed, Zubair M.
Publicado 2019

UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly

por Schnur, Rhonda E., Yousaf, Sairah, Liu, James, Chung, Wendy K., Rhodes, Lindsay, Marble, Michael, Zambrano, Regina M., Sobreira, Nara, Jayakar, Parul, Pierpont, Mary Ella, Schultz, Matthew J., Pichurin, Pavel N., Olson, Rory J., Graham, Gail E., Osmond, Matthew, Contreras-García, Gustavo A., Campo-Neira, Karina A, Peñaloza-Mantilla, Camilo A., Flage, Mark, Kuppa, Srikar, Navarro, Karina, Sacoto, Maria J. Guillen, Wentzensen, Ingrid M., Scarano, Maria I., Juusola, Jane, Prada, Carlos E., Hufnagel, Robert B.
Publicado 2021