Publications

Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
Am J Hum Genet 2016 Dec 23;99(6):1388-1394. Epub 2016 Nov 23.
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD 20892, USA; Children's National Medical Center, Washington, DC 20010, USA. Electronic address:



Digital facial dysmorphology for genetic screening: Hierarchical constrained local model using ICA.
Med Image Anal 2014 Jul 15;18(5):699-710. Epub 2014 Apr 15.
Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Medical Center, Washington, DC, United States; School of Medicine and Health Sciences, George Washington University, Washington, DC, United States.

Handheld optical coherence tomography during sedation in young children with optic pathway gliomas.
JAMA Ophthalmol 2014 Mar;132(3):265-71
The Gilbert Family Neurofibromatosis Institute, Children's National Medical Center, Washington, DC2Department of Neurology, Children's National Medical Center, Washington, DC6Department of Oncology, Children's National Medical Center, Washington, DC7The B.


Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
Am J Hum Genet 2013 Jun 23;92(6):1001-7. Epub 2013 May 23.
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Oncological Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA. Electronic address:





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