R. Tyler

发表

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

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

PITX2 and FOXC1 spectrum of mutations in ocular syndromes

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

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

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

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

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

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.

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.

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

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

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.

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.

VSX2 mutations in autosomal recessive microphthalmia

A. Kariminejad, L. Reis, E. Semina, 2011, 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.

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.

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.