H. Scanga

发表

Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation

B. Chauhan, G. Arnold, K. Nischal, 2015, Plastic and reconstructive surgery. Global open.

Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation

D. Morton, K. Dansingani, B. Chauhan, 2018, Ophthalmic genetics.

Iris anomalies and the incidence of ACTA2 mutation

K. Nischal, H. Scanga, Anagha Medsinge, 2018, British Journal of Ophthalmology.

Novel clinical presentation of a CRX rod-cone dystrophy

E. Traboulsi, K. Nischal, H. Scanga, 2021, BMJ Case Reports.

Somatic KRAS mutation affecting codon 146 in linear sebaceous nevus syndrome

M. Reyes-Múgica, S. Kapoor, K. Nischal, 2021, American journal of medical genetics. Part A.

Coenzyme Q10 in the Treatment of Corneal Edema in Kearns-Sayre: Is There an Application in Fuchs Endothelial Corneal Dystrophy?

B. Chauhan, K. Nischal, H. Scanga, 2016, Cornea.

K. Nischal, H. Scanga, 2022, American journal of medical genetics. Part A.

Congenital Corneal Opacity in 22q11.2 Deletion Syndrome: A Case Series

C. Prescott, E. Franco, M. Alabek, 2022, Cornea.

Transcriptome from opaque cornea of Fanconi anemia patient uncovers fibrosis and two connected players

C. Chu, B. Chauhan, K. Nischal, 2021, Molecular genetics and metabolism reports.

Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome

E. Franco, K. Nischal, H. Scanga, 2022, American journal of medical genetics. Part A.

Corneal Plana-Like Phenotype With Peripheral Scleralization Associated With a Pathogenic Variant of PITX2: A Case Report

E. Franco, K. Nischal, H. Scanga, 2023, Cornea.

Syndromic and Systemic Diagnoses Associated With Isolated Sagittal Synostosis

I. Pollack, M. Tamber, J. Goldstein, 2019, Plastic and reconstructive surgery. Global open.

A. Liasis, K. Nischal, H. Scanga, 2021, Ophthalmic genetics.

Genetics and ocular disorders: a focused review.

K. Nischal, H. Scanga, 2014, Pediatric clinics of North America.

K. Nischal, H. Scanga, 2020, Journal of American Association for Pediatric Ophthalmology and Strabismus.

Expansion of the ophthalmic phenotype of SPINT2‐related syndromic congenital sodium diarrhea

W. Motley, M. Alabek, K. Nischal, 2021, American journal of medical genetics. Part A.

Overarching Concepts and Mechanisms Affecting Phenotypes of Ocular Genetic Conditions

K. Nischal, H. Scanga, 2017, Current Genetic Medicine Reports.

Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations

Matthew P. Baumgartner, C. Camacho, B. Chauhan, 2018, American journal of ophthalmology case reports.

Macular atrophy in JAG1-related Alagille syndrome: a case series

A. Liasis, M. Paez-Escamilla, K. Nischal, 2021, Ophthalmic genetics.

Personalized pediatric ophthalmology: a case report.

F. Cladis, Alexis L. Franks, Lillian K To, 2019, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Developing a pediatric ophthalmology telemedicine program in the COVID-19 crisis

R. Pitetti, R. Caterino, Preeti Patil-Chhablani, 2020, Journal of American Association for Pediatric Ophthalmology and Strabismus.

Carcinoma-associated retinopathy in a young teenager with immature teratoma of the ovary.

L. Krishnamurti, K. Turaka, D. Kietz, 2014, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

The influence of congenital corneal opacity on ERGs obtained using an abbreviated protocol

A. Liasis, E. Franco, K. Nischal, 2022, Ophthalmic genetics.

Variable Phenotype of Congenital Corneal Opacities in Biallelic CYP1B1 Pathogenic Variants.

M. Gagrani, E. Franco, Charleen T Chu, 2023, Cornea.

Genetics and ocular disorders: a focused review.

K. Nischal, H. Scanga, 2014, Pediatric clinics of North America.

Congenital primary aphakia.

Asim Ali, K. Nischal, H. Scanga, 2022, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Keratoconus in a child with partial trisomy 13

K. Nischal, H. Scanga, Julia Ernst, 2021, Ophthalmic genetics.