Rebecca C. Tyler

发表

PITX2 deficiency and associated human disease: insights from the zebrafish model

E. Sorokina, B. Link, L. Reis, 2018, Human molecular genetics.

Novel SOX2 mutations and genotype–phenotype correlation in anophthalmia and microphthalmia

T. Bardakjian, L. Reis, E. Semina, 2009, American journal of medical genetics. Part A.

Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes

Terrie E. Kitchner, Deborah M. Costakos, C. McCarty, 2016, Molecular vision.

FOXE3 plays a significant role in autosomal recessive microphthalmia

J. Stoler, T. Bardakjian, L. Reis, 2010, American journal of medical genetics. Part A.

OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype

T. Bardakjian, J. Soucy, L. Reis, 2011, Clinical genetics.

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

Donna M. Martin, U. Broeckel, O. Abdul-Rahman, 2011, Human Genetics.

Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes

T. Bardakjian, L. Reis, E. Semina, 2010, Molecular vision.

Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract

L. Reis, E. Semina, R. C. Tyler, 2014, Molecular vision.

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes

Deborah M. Costakos, Dennis P. Han, L. Salviati, 2013, Human Genetics.

A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism

A. Lehman, H. Reddi, G. Scharer, 2023, Journal of Genetics.

Long-term retinal imaging of a case of suspected congenital rubella infection

Christopher S. Langlo, J. Carroll, M. Neitz, 2021, American journal of ophthalmology case reports.

Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

D. Bick, S. Wallace, T. Mcgregor, 2014, Clinical genetics.

Mutation analysis of B3GALTL in Peters Plus syndrome

J. Hoffman, O. Abdul-Rahman, Aneal Khan, 2008, American journal of medical genetics. Part A.

PITX2 and FOXC1 spectrum of mutations in ocular syndromes

U. Broeckel, J. Murray, L. Reis, 2012, European Journal of Human Genetics.

Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies

A. Schinzel, E. Weh, L. Reis, 2016, Clinical genetics.