PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1

por Xiao, Changrui, Markello, Thomas, Zein, Wadih M., Bishop, Rachel, Groden, Catherine, Gahl, William, Toro, Camilo
Publicado en Neurol Genet (2021)

Ocular and Systemic Findings in Adults with Uveal Coloboma

por Varela, Malena Daich, Huryn, Laryssa A., Hufnagel, Robert B., Zein, Wadih M., Blain, Delphine, Brooks, Brian P.
Publicado en Ophthalmology (2020)

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency

por Brooks, Brian P., Thompson, Amy H., Sloan, Jennifer, Manoli, Irini, Carrillo-Carrasco, Nuria, Zein, Wadih M., Venditti, Charles P.
Publicado en Ophthalmology (2016)

Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy

por Pfister, Tyler A., Zein, Wadih M., Cukras, Catherine A., Sen, Hatice N., Maldonado, Ramiro S., Huryn, Laryssa A., Hufnagel, Robert B.
Publicado en Invest Ophthalmol Vis Sci (2021)

Genotype-phenotype associations in a large PRPH2-related retinopathy cohort

por Reeves, Melissa J., Goetz, Kerry E., Guan, Bin, Ullah, Ehsan, Blain, Delphine, Zein, Wadih M., Tumminia, Santa J., Hufnagel, Robert B.
Publicado en Hum Mutat (2020)

Patients within the Broad Holoprosencephaly Spectrum have Distinct and Subtle Ophthalmologic Anomalies: Response to Khan

por Pineda-Alvarez, Daniel E., Solomon, Benjamin D., Roessler, Erich, Balog, Joan Z., Hadley, Donald W., Zein, Wadih M., Brooks, Brian P., Muenke, Maximilian
Publicado 2012

BRITTLE HAIR, DEVELOPMENTAL DELAY, NEUROLOGIC ABNORMALITIES AND PHOTOSENSITIVITY IN A 4 YEAR OLD GIRL

por Zhou, Xiaolong, Khan, Sikandar G., Tamura, Deborah, Patronas, Nicholas J., Zein, Wadih M., Brooks, Brian P., Kraemer, Kenneth H., DiGiovanna, John J.
Publicado 2010

Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies

por Wang, Xinjing, Zein, Wadih M., D’Souza, Leera, Roberson, Chimere, Wetherby, Keith, He, Hong, Villarta, Angela, Turriff, Amy, Johnson, Kory R., Fann, Yang C.
Publicado en BMC Ophthalmol (2017)

Clinical Features of Optic Disc Drusen in an Ophthalmic Genetics Cohort

por Serpen, Jasmine Y., Prasov, Lev, Zein, Wadih M., Cukras, Catherine A., Cunningham, Denise, Murphy, Elizabeth C., Turriff, Amy, Brooks, Brian P., Huryn, Laryssa A.
Publicado en J Ophthalmol (2020)

A novel iris transillumination grading scale allowing flexible assessment with quantitative image analysis and visual matching

por Wang, Chen, Brancusi, Flavia, Anderson, Michael G, Cunningham, Denise, Hedberg-Buenz, Adam, Simeonov, Dimitre, Gahl, William A, Zein, Wadih M, Adams, David R, Brooks, Brian
Publicado en Ophthalmic Genet (2017)

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

por Meissner, Laura E., Macnamara, Ellen F., D'Souza, Precilla, Yang, John, Vezina, Gilbert, Ferreira, Carlos R., Zein, Wadih M., Tifft, Cynthia J., Adams, David R.
Publicado en Mol Genet Genomic Med (2020)

A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot

por Daich Varela, Malena, Zein, Wadih M, Toro, Camilo, Groden, Catherine, Johnston, Jean, Huryn, Laryssa A, d’Azzo, Alessandra, Tifft, Cynthia J, FitzGibbon, Edmond J
Publicado en Br J Ophthalmol (2021)

A Broad Range of Ophthalmologic Anomalies is Part of the Holoprosencephaly Spectrum

por Pineda-Alvarez, Daniel E., Solomon, Benjamin D., Roessler, Erich, Balog, Joan Z., Hadley, Donald W., Zein, Wadih M., Hadsall, Casey K., Brooks, Brian P., Muenke, Maximilian
Publicado 2011

The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature

por 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.
Publicado en Am J Med Genet C Semin Med Genet (2020)

CNGB3-Achromatopsia Clinical Trial With CNTF: Diminished Rod Pathway Responses With No Evidence of Improvement in Cone Function

por Zein, Wadih M., Jeffrey, Brett G., Wiley, Henry E., Turriff, Amy E., Tumminia, Santa J., Tao, Weng, Bush, Ronald A., Marangoni, Dario, Wen, Rong, Wei, Lisa L., Sieving, Paul A.
Publicado 2014

Atypical and Ultra-rare Usher Syndrome: A Review

por Nolen, Rosalie M., Hufnagel, Robert B., Friedman, Thomas B., Turriff, Amy E., Brewer, Carmen C., Zalewski, Christopher K., King, Kelly A., Wafa, Talah, Griffith, Andrew J., Brooks, Brian, Zein, Wadih M.
Publicado en Ophthalmic Genet (2020)

HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation

por Donkervoort, Sandra, Bharucha-Goebel, Diana, Yun, Pomi, Hu, Ying, Mohassel, Payam, Hoke, Ahmet, Zein, Wadih M., Ezzo, Daniel, Atherton, Andrea M., Modrcin, Ann C., Dasouki, Majed, Foley, A. Reghan, Bönnemann, Carsten G.
Publicado en Neurol Genet (2017)

NEUROTRANSMITTER ABNORMALITIES AND RESPONSE TO SUPPLEMENTATION IN SPG11

por Vanderver, Adeline, Tonduti, Davide, Auerbach, Sarah, Schmidt, Johanna L., Parikh, Sumit, Gowans, Gordon C., Jackson, Kelly E., Brock, Pamela L., Patterson, Marc, Nehrebecky, Michelle, Godfrey, Rena, Zein, Wadih M., Gahl, William, Toro, Camilo
Publicado 2012

Case Report: Ocular toxoplasmosis in a WHIM syndrome immunodeficiency patient

por McDermott, David H., Heusinkveld, Lauren E., Zein, Wadih M., Sen, H. Nida, Marquesen, Martha M., Parta, Mark, Rosenzweig, Sergio D., Fahle, Gary A., Keller, Michael D., Wiley, Henry E., Murphy, Philip M.
Publicado en F1000Res (2019)

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

por 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.
Publicado en Orphanet J Rare Dis (2019)