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Novel SOX2 mutations and genotype–phenotype correlation in anophthalmia and microphthalmia
- A. Schneider, T. Bardakjian, L. Reis, R. C. Tyler, E. Semina
- Biology, MedicineAmerican journal of medical genetics. Part A
- 1 December 2009
A potential genotype/phenotype correlation for SOX2 mutations with missense changes generally leading to less severe ocular defects is suggested.
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.
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.
Spiritual Assessment in Genetic Counseling
- L. Reis, R. Baumiller, W. Scrivener, G. Yager, N. S. Warren
- EducationJournal of Genetic Counseling
- 1 February 2007
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.
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.
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.
FOXE3 plays a significant role in autosomal recessive microphthalmia
- L. Reis, R. C. Tyler, E. Semina
- Medicine, BiologyAmerican journal of medical genetics. Part A
- 1 March 2010
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 and…
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma
- B. Deml, L. Reis, E. Lemyre, R. Clark, A. Kariminejad, E. Semina
- MedicineEuropean Journal of Human Genetics
- 1 July 2015
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.
Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.
This review summarizes current success in identification of genes responsible for microphthalmia, anophthalmia, and coloboma phenotypes, which are associated with early defects in embryonic eye development, and identifies overlapping phenotypes for most factors.
Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts
- B. Deml, A. Kariminejad, Razieh H. R. Borujerdi, S. Muheisen, L. Reis, E. Semina
- BiologyPLoS genetics
- 1 February 2015
The identification of MAB21L2 as a novel factor involved in human coloboma is supported and the power of genome editing manipulation in model organisms for analysis of the effects of whole exome variation in humans is highlighted.