Retinoschisis associated with Kearns-Sayre syndrome

Autor Chertkof, Julia, Hufnagel, Robert B., Blain, Delphine, Gropman, Andrea L., Brooks, Brian P.
Vydáno v Ophthalmic Genet (2020)

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

Autor Chertkof, Julia, Hufnagel, Robert B., Blain, Delphine, Gropman, Andrea L., Brooks, Brian P.
Vydáno v Ophthalmic Genet (2020)

Motivations and Decision-Making Processes of Men with X-linked Retinoschisis Considering Participation in an Ocular Gene Therapy Trial

Autor Turriff, Amy, Blain, Delphine, Similuk, Morgan, Biesecker, Barbara, Wiley, Henry, Cukras, Catherine, Sieving, Paul A.
Vydáno v Am J Ophthalmol (2019)

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

Autor Brooks, Brian P, Meck, Jeanne M, Haddad, Bassem R, Bendavid, Claude, Blain, Delphine, Toretsky, Jeffrey A
Vydáno 2006

Ocular and Systemic Findings in Adults with Uveal Coloboma

Autor Varela, Malena Daich, Huryn, Laryssa A., Hufnagel, Robert B., Zein, Wadih M., Blain, Delphine, Brooks, Brian P.
Vydáno v Ophthalmology (2020)

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

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

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

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

Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network

Autor Goetz, Kerry E., Reeves, Melissa J., Gagadam, Shaina, Blain, Delphine, Bender, Chelsea, Lwin, Cara, Naik, Amelia, Tumminia, Santa J., Hufnagel, Robert B.
Vydáno v Am J Med Genet C Semin Med Genet (2020)

Prevalence of Mutations in eyeGENE Probands With a Diagnosis of Autosomal Dominant Retinitis Pigmentosa

Autor Sullivan, Lori S., Bowne, Sara J., Reeves, Melissa J., Blain, Delphine, Goetz, Kerry, NDifor, Vida, Vitez, Sally, Wang, Xinjing, Tumminia, Santa J., Daiger, Stephen P.
Vydáno 2013

High‐throughput custom capture sequencing identifies novel mutations in coloboma‐associated genes: Mutation in DNA‐binding domain of retinoic acid receptor beta affects nuclear loc...

Autor Kalaskar, Vijay K., Alur, Ramakrishna P., Li, LeeAnn K., Thomas, James W., Sergeev, Yuri V., Blain, Delphine, Hufnagel, Robert B., Cogliati, Tiziana, Brooks, Brian P.
Vydáno v Hum Mutat (2019)

Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism

Autor Varela, Malena Daich, Hufnagel, Robert B., Guan, Bin, Blain, Delphine, Sapp, Julie C., Gropman, Andrea L., Alur, Ramakrishna, Johnston, Jennifer J., Biesecker, Leslie G., Brooks, Brian P.
Vydáno v Ophthalmic Genet (2021)

Compound Heterozygosity for Mutations in PAX6 in Patient with Complex Brain Anomaly, Neonatal Diabetes Mellitus, and Microophthalmia

Autor Solomon, Benjamin D., Pineda-Alvarez, Daniel E., Balog, Joan Z., Hadley, Donald, Gropman, Andrea L., Nandagopal, Radha, Han, Joan C., Hahn, Jin S., Blain, Delphine, Brooks, Brian, Muenke, Maximilian
Vydáno 2009

Systemic Diagnostic Testing in Patients With Apparently Isolated Uveal Coloboma

Autor HUYNH, NANCY, BLAIN, DELPHINE, GLASER, TANYA, DOSS, E. LAUREN, ZEIN, WADIH M., LANG, DAVID M., BAKER, EVA H., HILL, SUVIMOL, BREWER, CARMEN C., KOPP, JEFFREY B., BARDAKJIAN, TANYA M., MAUMENEE, IRENE H., BATEMAN, BRONWYN J., BROOKS, BRIAN P.
Vydáno 2013

Ocular Manifestations of Trichothiodystrophy

Autor Brooks, Brian P, Thompson, Amy H, Clayton, Janine A, Chan, Chi-Chao, Tamura, Deborah, Zein, Wadih M, Blain, Delphine, Hadsall, Casey, Rowan, John, Bowles, Kristen E, Khan, Sikandar G., Ueda, Takahiro, Boyle, Jennifer, Oh, Kyu-Seon, DiGiovanna, John J, Kraemer, Kenneth H
Vydáno 2011