Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation
Lam, Christina, Ferreira, Carlos, Krasnewich, Donna, Toro, Camilo, Latham, Lea, Zein, Wadih M., Lehky, Tanya, Brewer, Carmen, Baker, Eva H., Thurm, Audrey, Farmer, Cristan A., Rosenzweig, Sergio D., Lyons, Jonathan J., Schreiber, John M., Gropman, Andrea, Lingala, Shilpa, Ghany, Marc G., Solomon, Beth, Macnamara, Ellen, Davids, Mariska, Stratakis, Constantine A., Kimonis, Virginia, Gahl, William A., Wolfe, Lynne
Published in Genetics in medicine (01.02.2017)
Published in Genetics in medicine (01.02.2017)
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Journal Article
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy
Pfister, Tyler A, Zein, Wadih M, Cukras, Catherine A, Sen, Hatice N, Maldonado, Ramiro S, Huryn, Laryssa A, Hufnagel, Robert B
Published in Investigative ophthalmology & visual science (20.05.2021)
Published in Investigative ophthalmology & visual science (20.05.2021)
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Journal Article
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort
Bharucha-Goebel, Diana X, Norato, Gina, Saade, Dimah, Paredes, Eduardo, Biancavilla, Victoria, Donkervoort, Sandra, Kaur, Rupleen, Lehky, Tanya, Fink, Margaret, Armao, Diane, Gray, Steven J, Waite, Melissa, Debs, Sarah, Averion, Gilberto, Hu, Ying, Zein, Wadih M, Foley, A Reghan, Jain, Minal, Bönnemann, Carsten G
Published in Brain (London, England : 1878) (29.11.2021)
Published in Brain (London, England : 1878) (29.11.2021)
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Journal Article
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature
Varela, Malena Daich, Jani, Priyam, Zein, Wadih M., D'Souza, Precilla, Wolfe, Lynne, Chisholm, Jennifer, Zalewski, Christopher, Adams, David, Warner, Blake M., Huryn, Laryssa A., Hufnagel, Robert B.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2020)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2020)
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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
Proposed therapy, developed in a Pcdh15 -deficient mouse, for progressive loss of vision in human Usher syndrome
Sethna, Saumil, Zein, Wadih M, Riaz, Sehar, Giese, Arnaud Pj, Schultz, Julie M, Duncan, Todd, Hufnagel, Robert B, Brewer, Carmen C, Griffith, Andrew J, Redmond, T Michael, Riazuddin, Saima, Friedman, Thomas B, Ahmed, Zubair M
Published in eLife (09.11.2021)
Published in eLife (09.11.2021)
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Journal Article
Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study
Levin, Sondra W, MD, Baker, Eva H, PhD, Zein, Wadih M, MD, Zhang, Zhongjian, MD, Quezado, Zenaide M N, MD, Miao, Ning, MD, Gropman, Andrea, MD, Griffin, Kurt J, MD, Bianconi, Simona, MD, Chandra, Goutam, PhD, Khan, Omar I, MD, Caruso, Rafael C, MD, Liu, Aiyi, PhD, Mukherjee, Anil B, Dr
Published in Lancet neurology (01.08.2014)
Published in Lancet neurology (01.08.2014)
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Journal Article
Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients
Chin, Joseph J., Behnam, Babak, Davids, Mariska, Sharma, Prashant, Zein, Wadih M., Wang, Camille, Chepa-Lotrea, Xenia, Gallantine, William Brian, Toro, Camilo, Adams, David R., Tifft, Cynthia J., Gahl, William A., Malicdan, May Christine V.
Published in Molecular genetics and metabolism (01.02.2019)
Published in Molecular genetics and metabolism (01.02.2019)
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Journal Article
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising
Power, Bradley, Ferreira, Carlos R, Chen, Dong, Zein, Wadih M, O'Brien, Kevin J, Introne, Wendy J, Stephen, Joshi, Gahl, William A, Huizing, Marjan, Malicdan, May Christine V, Adams, David R, Gochuico, Bernadette R
Published in Orphanet journal of rare diseases (21.02.2019)
Published in Orphanet journal of rare diseases (21.02.2019)
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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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Journal Article
Defective ciliogenesis in INPP5E‐related Joubert syndrome
Hardee, Isabel, Soldatos, Ariane, Davids, Mariska, Vilboux, Thierry, Toro, Camilo, David, Karen L., Ferreira, Carlos R., Nehrebecky, Michele, Snow, Joseph, Thurm, Audrey, Heller, Theo, Macnamara, Ellen F., Gunay‐Aygun, Meral, Zein, Wadih M., Gahl, William A., Malicdan, May Christine V.
Published in American journal of medical genetics. Part A (01.12.2017)
Published in American journal of medical genetics. Part A (01.12.2017)
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Journal Article
Clinical Phenotypes of CDHR1 -Associated Retinal Dystrophies
Malechka, Volha V, Cukras, Catherine A, Chew, Emily Y, Sergeev, Yuri V, Blain, Delphine, Jeffrey, Brett G, Ullah, Ehsan, Hufnagel, Robert B, Brooks, Brian P, Huryn, Laryssa A, Zein, Wadih M
Published in Genes (22.05.2022)
Published in Genes (22.05.2022)
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Journal Article
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors
Lam, Christina, Golas, Gretchen A., Davids, Mariska, Huizing, Marjan, Kane, Megan S., Krasnewich, Donna M., Malicdan, May Christine V., Adams, David R., Markello, Thomas C., Zein, Wadih M., Gropman, Andrea L., Lodish, Maya B., Stratakis, Constantine A., Maric, Irina, Rosenzweig, Sergio D., Baker, Eva H., Ferreira, Carlos R., Danylchuk, Noelle R., Kahler, Stephen, Garnica, Adolfo D., Bradley Schaefer, G., Boerkoel, Cornelius F., Gahl, William A., Wolfe, Lynne A.
Published in Molecular genetics and metabolism (01.06.2015)
Published in Molecular genetics and metabolism (01.06.2015)
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Journal Article
Clinical Features of Optic Disc Drusen in an Ophthalmic Genetics Cohort
Huryn, Laryssa A., Brooks, Brian P., Murphy, Elizabeth C., Cunningham, Denise, Cukras, Catherine A., Zein, Wadih M., Prasov, Lev, Serpen, Jasmine Y., Turriff, Amy
Published in Journal of ophthalmology (06.10.2020)
Published in Journal of ophthalmology (06.10.2020)
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Journal Article
Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates
Pfau, Maximilian, Cukras, Catherine A, Huryn, Laryssa A, Zein, Wadih M, Ullah, Ehsan, Boyle, Marisa P, Turriff, Amy, Chen, Michelle A, Hinduja, Aarti S, Siebel, Hermann Ea, Hufnagel, Robert B, Jeffrey, Brett G, Brooks, Brian P
Published in JCI insight (25.01.2022)
Published in JCI insight (25.01.2022)
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Journal Article
Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics
Aguilera, Nancy, Liu, Tao, Bower, Andrew J, Li, Joanne, Abouassali, Sarah, Lu, Rongwen, Giannini, John, Pfau, Maximilian, Bender, Chelsea, Smelkinson, Margery G, Naik, Amelia, Guan, Bin, Schwartz, Owen, Volkov, Andrei, Dubra, Alfredo, Liu, Zhuolin, Hammer, Daniel X, Maric, Dragan, Fariss, Robert, Hufnagel, Robert B, Jeffrey, Brett G, Brooks, Brian P, Zein, Wadih M, Huryn, Laryssa A, Tam, Johnny
Published in Communications biology (13.09.2022)
Published in Communications biology (13.09.2022)
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Journal Article
Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia
Malechka, Volha V., Duong, Dat, Bordonada, Keyla D., Turriff, Amy, Blain, Delphine, Murphy, Elizabeth, Introne, Wendy J., Gochuico, Bernadette R., Adams, David R., Zein, Wadih M., Brooks, Brian P., Huryn, Laryssa A., Solomon, Benjamin D., Hufnagel, Robert B.
Published in Ophthalmology science (Online) (01.03.2023)
Published in Ophthalmology science (Online) (01.03.2023)
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Journal Article
Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies
Wang, Xinjing, Zein, Wadih M, D'Souza, Leera, Roberson, Chimere, Wetherby, Keith, He, Hong, Villarta, Angela, Turriff, Amy, Johnson, Kory R, Fann, Yang C
Published in BMC ophthalmology (24.08.2017)
Published in BMC ophthalmology (24.08.2017)
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Journal Article
Ocular Manifestations of Trichothiodystrophy
Brooks, Brian P., MD, PhD, Thompson, Amy H., PhD, Clayton, Janine A., MD, Chan, Chi-Chao, MD, Tamura, Deborah, RN, MS, Zein, Wadih M., MD, Blain, Delphine, MS, MBA, Hadsall, Casey, RN, BSN, Rowan, John, COMT, Bowles, Kristen E., OD, MS, Khan, Sikandar G., PhD, Ueda, Takahiro, PhD, Boyle, Jennifer, PhD, Oh, Kyu-Seon, PhD, DiGiovanna, John J., MD, Kraemer, Kenneth H., MD
Published in Ophthalmology (Rochester, Minn.) (01.12.2011)
Published in Ophthalmology (Rochester, Minn.) (01.12.2011)
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