Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease
Zernant, Jana, Lee, Winston, Wang, Jun, Goetz, Kerry, Ullah, Ehsan, Nagasaki, Takayuki, Su, Pei-Yin, Fishman, Gerald A, Tsang, Stephen H, Tumminia, Santa J, Brooks, Brian P, Hufnagel, Robert B, Chen, Rui, Allikmets, Rando
Published in PLoS genetics (30.03.2022)
Published in PLoS genetics (30.03.2022)
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In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations
Shimada, Hiroko, Lu, Quanlong, Insinna-Kettenhofen, Christine, Nagashima, Kunio, English, Milton A., Semler, Elizabeth M., Mahgerefteh, Jacklyn, Cideciyan, Artur V., Li, Tiansen, Brooks, Brian P., Gunay-Aygun, Meral, Jacobson, Samuel G., Cogliati, Tiziana, Westlake, Christopher J., Swaroop, Anand
Published in Cell reports (Cambridge) (11.07.2017)
Published in Cell reports (Cambridge) (11.07.2017)
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Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7
Niu, Chenchen, Prakash, Thazah P, Kim, Aneeza, Quach, John L, Huryn, Laryssa A, Yang, Yuechen, Lopez, Edith, Jazayeri, Ali, Hung, Gene, Sopher, Bryce L, Brooks, Brian P, Swayze, Eric E, Bennett, C Frank, La Spada, Albert R
Published in Science translational medicine (31.10.2018)
Published in Science translational medicine (31.10.2018)
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Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness
George, Aman, Zand, Dina J., Hufnagel, Robert B., Sharma, Ruchi, Sergeev, Yuri V., Legare, Janet M., Rice, Gregory M., Scott Schwoerer, Jessica A., Rius, Mariana, Tetri, Laura, Gamm, David M., Bharti, Kapil, Brooks, Brian P.
Published in American journal of human genetics (01.12.2016)
Published in American journal of human genetics (01.12.2016)
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Journal Article
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia
Hall, Hildegard Nikki, Bengani, Hemant, Hufnagel, Robert B, Damante, Giuseppe, Ansari, Morad, Marsh, Joseph A, Grimes, Graeme R, Kriegsheim, Alex von, Moore, David, McKie, Lisa, Rahmat, Jamalia, Mio, Catia, Blyth, Moira, Keng, Wee Teik, Islam, Lily, McEntargart, Meriel, Mannens, Marcel M, Heyningen, Veronica Van, Rainger, Joe, Brooks, Brian P, FitzPatrick, David R
Published in PloS one (22.11.2022)
Published in PloS one (22.11.2022)
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Journal Article
DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics
Simeonov, Dimitre R., Wang, Xinjing, Wang, Chen, Sergeev, Yuri, Dolinska, Monika, Bower, Matthew, Fischer, Roxanne, Winer, David, Dubrovsky, Genia, Balog, Joan Z., Huizing, Marjan, Hart, Rachel, Zein, Wadih M., Gahl, William A., Brooks, Brian P., Adams, David R.
Published in Human mutation (01.06.2013)
Published in Human mutation (01.06.2013)
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Journal Article
Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency
Brooks, Brian P., MD, PhD, Thompson, Amy H., PhD, Sloan, Jennifer L., MS, PhD, Manoli, Irini, MD, PhD, Carrillo-Carrasco, Nuria, MD, Zein, Wadih M., MD, Venditti, Charles P., MD, PhD
Published in Ophthalmology (Rochester, Minn.) (01.03.2016)
Published in Ophthalmology (Rochester, Minn.) (01.03.2016)
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Journal Article
Nolz1 expression is required in dopaminergic axon guidance and striatal innervation
Soleilhavoup, Clement, Travaglio, Marco, Patrick, Kieran, Garção, Pedro, Boobalan, Elangovan, Adolfs, Youri, Spriggs, Ruth V, Moles-Garcia, Emma, Dhiraj, Dalbir, Oosterveen, Tony, Ferri, Sarah L, Abel, Ted, Brodkin, Edward S, Pasterkamp, R Jeroen, Brooks, Brian P, Panman, Lia
Published in Nature communications (19.06.2020)
Published in Nature communications (19.06.2020)
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Journal Article
Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations
Johnston, Jennifer J., Lewis, Katie L., Ng, David, Singh, Larry N., Wynter, Jamila, Brewer, Carmen, Brooks, Brian P., Brownell, Isaac, Candotti, Fabio, Gonsalves, Steven G., Hart, Suzanne P., Kong, Heidi H., Rother, Kristina I., Sokolic, Robert, Solomon, Benjamin D., Zein, Wadih M., Cooper, David N., Stenson, Peter D., Mullikin, James C., Biesecker, Leslie G.
Published in American journal of human genetics (04.06.2015)
Published in American journal of human genetics (04.06.2015)
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A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma
Liu, Chunqiao, Widen, Sonya A, Williamson, Kathleen A, Ratnapriya, Rinki, Gerth-Kahlert, Christina, Rainger, Joe, Alur, Ramakrishna P, Strachan, Erin, Manjunath, Souparnika H, Balakrishnan, Archana, Floyd, James A, Li, Tiansen, Waskiewicz, Andrew, Brooks, Brian P, Lehmann, Ordan J, FitzPatrick, David R, Swaroop, Anand
Published in Human molecular genetics (01.04.2016)
Published in Human molecular genetics (01.04.2016)
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Journal Article
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes
Marchegiani, Shannon, Davis, Taylor, Tessadori, Federico, van Haaften, Gijs, Brancati, Francesco, Hoischen, Alexander, Huang, Haigen, Valkanas, Elise, Pusey, Barbara, Schanze, Denny, Venselaar, Hanka, Vulto-van Silfhout, Anneke T., Wolfe, Lynne A., Tifft, Cynthia J., Zerfas, Patricia M., Zambruno, Giovanna, Kariminejad, Ariana, Sabbagh-Kermani, Farahnaz, Lee, Janice, Tsokos, Maria G., Lee, Chyi-Chia R., Ferraz, Victor, da Silva, Eduarda Morgana, Stevens, Cathy A., Roche, Nathalie, Bartsch, Oliver, Farndon, Peter, Bermejo-Sanchez, Eva, Brooks, Brian P., Maduro, Valerie, Dallapiccola, Bruno, Ramos, Feliciano J., Chung, Hon-Yin Brian, Le Caignec, Cédric, Martins, Fabiana, Jacyk, Witold K., Mazzanti, Laura, Brunner, Han G., Bakkers, Jeroen, Lin, Shuo, Malicdan, May Christine V., Boerkoel, Cornelius F., Gahl, William A., de Vries, Bert B.A., van Haelst, Mieke M., Zenker, Martin, Markello, Thomas C.
Published in American journal of human genetics (02.07.2015)
Published in American journal of human genetics (02.07.2015)
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Transcriptional mapping of the macaque retina and RPE-choroid reveals conserved inter-tissue transcription drivers and signaling pathways
Mungale, Ameera, McGaughey, David M, Zhang, Congxiao, Yousaf, Sairah, Liu, James, Brooks, Brian P, Maminishkis, Arvydas, Fufa, Temesgen D, Hufnagel, Robert B
Published in Frontiers in genetics (25.11.2022)
Published in Frontiers in genetics (25.11.2022)
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Albinism-causing mutations in recombinant human tyrosinase alter intrinsic enzymatic activity
Dolinska, Monika B, Kovaleva, Elena, Backlund, Peter, Wingfield, Paul T, Brooks, Brian P, Sergeev, Yuri V
Published in PloS one (02.01.2014)
Published in PloS one (02.01.2014)
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Journal Article
Ocular Manifestations of Xeroderma Pigmentosum
Brooks, Brian P., MD, PhD, Thompson, Amy H., PhD, Bishop, Rachel J., MD, Clayton, Janine A., MD, Chan, Chi-Chao, MD, Tsilou, Ekaterini T., MD, Zein, Wadih M., MD, Tamura, Deborah, RN, MS, Khan, Sikandar G., PhD, Ueda, Takahiro, PhD, Boyle, Jennifer, PhD, Oh, Kyu-Seon, PhD, Imoto, Kyoko, PhD, Inui, Hiroki, PhD, Moriwaki, Shin-Ichi, PhD, Emmert, Steffen, MD, Iliff, Nicholas T., MD, Bradford, Porcia, MD, DiGiovanna, John J., MD, Kraemer, Kenneth H., MD
Published in Ophthalmology (Rochester, Minn.) (01.07.2013)
Published in Ophthalmology (Rochester, Minn.) (01.07.2013)
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Persistent Dark Cones in Oligocone Trichromacy Revealed by Multimodal Adaptive Optics Ophthalmoscopy
Li, Joanne, Liu, Tao, Flynn, Oliver J, Turriff, Amy, Liu, Zhuolin, Ullah, Ehsan, Liu, Jianfei, Dubra, Alfredo, Johnson, Mary A, Brooks, Brian P, Hufnagel, Robert B, Hammer, Daniel X, Huryn, Laryssa A, Jeffrey, Brett G, Tam, Johnny
Published in Frontiers in aging neuroscience (09.03.2021)
Published in Frontiers in aging neuroscience (09.03.2021)
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Journal Article
aldh7a1 regulates eye and limb development in zebrafish
Babcock, Holly E, Dutta, Sunit, Alur, Ramakrishna P, Brocker, Chad, Vasiliou, Vasilis, Vitale, Susan, Abu-Asab, Mones, Brooks, Brian P
Published in PloS one (08.07.2014)
Published in PloS one (08.07.2014)
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Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5
Stephen, Joshi, Yokoyama, Tadafumi, Tolman, Nathanial J, O'Brien, Kevin J, Nicoli, Elena-Raluca, Brooks, Brian P, Huryn, Laryssa, Titus, Steven A, Adams, David R, Chen, Dong, Gahl, William A, Gochuico, Bernadette R, Malicdan, May Christine V
Published in PloS one (15.03.2017)
Published in PloS one (15.03.2017)
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In vivo assessment of neurodegeneration in Spinocerebellar Ataxia type 7
Parker, Jacob A., Merchant, Shabbir H., Attaripour-Isfahani, Sanaz, Cho, Hyun Joo, McGurrin, Patrick, Brooks, Brian P., La Spada, Albert R., Hallett, Mark, Huryn, Laryssa A., Horovitz, Silvina G.
Published in NeuroImage clinical (01.01.2021)
Published in NeuroImage clinical (01.01.2021)
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Journal Article
Ophthalmic Manifestations and Histopathology of Xeroderma Pigmentosum: Two Clinicopathological Cases and a Review of the Literature
Ramkumar, Hema L., MD, Brooks, Brian P., MD, PhD, Cao, Xiaoguang, MD, Tamura, Deborah, RN, MS, DiGiovanna, John J., MD, Kraemer, Kenneth H., MD, Chan, Chi-Chao, MD
Published in Survey of ophthalmology (01.07.2011)
Published in Survey of ophthalmology (01.07.2011)
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