Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes

door George, Aman, Cogliati, Tiziana, Brooks, Brian P
Gepubliceerd in Exp Eye Res (2020)

Anophthalmia including next-generation sequencing-based approaches

door Harding, Philippa, Brooks, Brian P., FitzPatrick, David, Moosajee, Mariya
Gepubliceerd in Eur J Hum Genet (2019)

eyeGENE(R): a novel approach to combine clinical testing and researching genetic ocular disease

door Goetz, Kerry E., Reeves, Melissa J., Tumminia, Santa J., Brooks, Brian P.
Gepubliceerd in 2012

Retinoschisis associated with Kearns-Sayre syndrome

door Chertkof, Julia, Hufnagel, Robert B., Blain, Delphine, Gropman, Andrea L., Brooks, Brian P.
Gepubliceerd in Ophthalmic Genet (2020)

Response to Finsterer’s “Exclude hereditary and acquired differential disorders before attributing retinoschisis to Kears-Sayre syndrome”

door Chertkof, Julia, Hufnagel, Robert B., Blain, Delphine, Gropman, Andrea L., Brooks, Brian P.
Gepubliceerd in Ophthalmic Genet (2020)

nlz1 is required for cilia formation in zebrafish embryogenesis

door Dutta, Sunit, Sriskanda, Shahila, Boobalan, Elangovan, Alur, Ramakrishna. P., Elkahloun, Abdel, Brooks, Brian P.
Gepubliceerd in Dev Biol (2015)

Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report

door Brooks, Brian P, Kleta, Robert, Caruso, Rafael C, Stuart, Caroline, Ludlow, Jonathan, Stratakis, Constantine A
Gepubliceerd in 2004

Albinism-Causing Mutations in Recombinant Human Tyrosinase Alter Intrinsic Enzymatic Activity

door Dolinska, Monika B., Kovaleva, Elena, Backlund, Peter, Wingfield, Paul T., Brooks, Brian P., Sergeev, Yuri V.
Gepubliceerd in 2014

Oculocutaneous Albinism Type 1: Link between Mutations, Tyrosinase Conformational Stability, and Enzymatic Activity

door Dolinska, Monika B., Kus, Nicole, Farney, Katie, Wingfield, Paul T., Brooks, Brian P., Sergeev, Yuri V.
Gepubliceerd in Pigment Cell Melanoma Res (2017)

Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature

door Brooks, Brian P, Meck, Jeanne M, Haddad, Bassem R, Bendavid, Claude, Blain, Delphine, Toretsky, Jeffrey A
Gepubliceerd in 2006

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

door Daich Varela, Malena, Ullah, Ehsan, Yousaf, Sairah, Brooks, Brian P., Hufnagel, Robert B., Huryn, Laryssa A.
Gepubliceerd in Invest Ophthalmol Vis Sci (2020)

XERODERMA PIGMENTOSUM, TRICHOTHIODYSTROPHY AND COCKAYNE SYNDROME: A COMPLEX GENOTYPE-PHENOTYPE RELATIONSHIP

door Kraemer, Kenneth H., Patronas, Nicholas J., Schiffmann, Raphael, Brooks, Brian P., Tamura, Deborah, DiGiovanna, John J.
Gepubliceerd in 2007

Ocular and Systemic Findings in Adults with Uveal Coloboma

door Varela, Malena Daich, Huryn, Laryssa A., Hufnagel, Robert B., Zein, Wadih M., Blain, Delphine, Brooks, Brian P.
Gepubliceerd in Ophthalmology (2020)

Nonlinear gene cluster analysis with labeling for microarray gene expression data in organ development

door Ehler, Martin, Rajapakse, Vinodh N, Zeeberg, Barry R, Brooks, Brian P, Brown, Jacob, Czaja, Wojciech, Bonner, Robert F
Gepubliceerd in 2011

Identifying core biological processes distinguishing human eye tissues with precise systems-level gene expression analyses and weighted correlation networks

door Bryan, John M, Fufa, Temesgen D, Bharti, Kapil, Brooks, Brian P, Hufnagel, Robert B, McGaughey, David M
Gepubliceerd in Hum Mol Genet (2018)

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

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

Genomics in the Era of Molecular Ophthalmology: Reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE(™))

door Brooks, Brian P., MacDonald, Ian M., Tumminia, Santa J., Smaoui, Nizar, Blain, Delphine, Nezhuvingal, Ajaina A., Sieving, Paul A.
Gepubliceerd in 2008

Ophthalmic Manifestations and Histopathology of Xeroderma Pigmentosum: Two Clinicopathological Cases and a Review of the Literature

door Ramkumar, Hema L., Brooks, Brian P., Cao, Xiaoguang, Tamura, Deborah, DiGiovanna, John J., Kraemer, Kenneth H., Chan, Chi-Chao
Gepubliceerd in 2011

aldh7a1 Regulates Eye and Limb Development in Zebrafish

door Babcock, Holly E., Dutta, Sunit, Alur, Ramakrishna P., Brocker, Chad, Vasiliou, Vasilis, Vitale, Susan, Abu-Asab, Mones, Brooks, Brian P.
Gepubliceerd in 2014

Multiple A2E treatments lead to melanization of rod outer segment–challenged ARPE-19 cells

door Poliakov, Eugenia, Strunnikova, Natalya V., Jiang, Jian-kang, Martinez, Bianca, Parikh, Toral, Lakkaraju, Aparna, Thomas, Craig, Brooks, Brian P., Redmond, T. Michael
Gepubliceerd in 2014