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Novel SOX2 mutations and genotype–phenotype correlation in anophthalmia and microphthalmia
A potential genotype/phenotype correlation for SOX2 mutations with missense changes generally leading to less severe ocular defects is suggested. Expand
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
It is proposed that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements and provides insight into new pathogenic mechanisms, such as altered regulation due to changes in chromosome topology. Expand
Genetics of anterior segment dysgenesis disorders
Although a number of genetic causes have been identified, many ASD conditions are still awaiting genetic elucidation, and the use of novel technologies is likely to broaden the mutation spectrums in known genes and assist in the identification of novel causative genes as well as modifiers explaining the phenotypic variability of ASD conditions. Expand
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome
The results significantly expand the number of reported loss-of-function mutations, further support the critical role of BMP4 in ocular development, and provide additional evidence of variable expression/non-penetrance of B MP4 mutations. Expand
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype
Four novel mutations and delineation of a phenotype are identified in OTX2 microphthalmia syndrome and these mutations have the potential to alter the prognosis of the disease. Expand
Spiritual Assessment in Genetic Counseling
A need for increased training regarding the methods for and relevance of spiritual assessment in genetic counseling is suggested and recommendations for future directions of research are explored. Expand
PITX2 and FOXC1 spectrum of mutations in ocular syndromes
PITX2 or FOXC1 disruptions explained 63% of ARS and 6% of other ASD in the authors' cohort; all affected patients demonstrated additional systemic defects with PITX2 mutations showing a strong association with dental and/or umbilical anomalies and FoxC1 with heart and hearing defects. Expand
FOXE3 plays a significant role in autosomal recessive microphthalmia
FOXE3 forkhead transcription factor is essential to lens development in vertebrates. The eyes of Foxe3/foxe3‐deficient mice and zebrafish fail to develop normally. In humans, autosomal dominant andExpand
Mutation analysis of B3GALTL in Peters Plus syndrome
Data confirm an important role for B3GALTL in causing typical Peters Plus syndrome, and suggest that this gene may not be implicated in syndromic cases that involve Peters anomaly but lack other classic features of this complex condition. Expand
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma
This study underscores the utility of whole-exome sequencing for identification of causative mutations in highly variable ocular phenotypes as well as the extreme genetic heterogeneity of A/M conditions. Expand