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List of works by Robert B Hufnagel

A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure

scientific article published on 17 March 2016

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.

scientific article

An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist

scientific article published on 21 November 2020

Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma

scientific article published on May 2015

Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies

scientific article published in 2022

Conserved regulation of Math5 and Math1 revealed by Math5-GFP transgenes

scientific article published on 15 August 2007

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

scientific article published on 25 September 2019

Gene therapy for Leber congenital amaurosis: advances and future directions.

scientific article published on 29 May 2012

Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network

scientific article published on 07 September 2020

Heterochronic misexpression of Ascl1 in the Atoh7 retinal cell lineage blocks cell cycle exit

scientific article published on 26 February 2013

High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma

scientific article published on 09 December 2019

Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy

scientific article

Introduction to the special issue on Ophthalmic Genetics: Vision in 2020

scientific article published on 31 August 2020

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

scientific journal article

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

scientific article

Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

scientific article published on 05 December 2014

Ocular genetics in the genomics age

scientific article published on 08 September 2020

Ophthalmic genetics in South America

scientific article published on 28 August 2020

PNPLA6-Related Disorders

scientific article published on 11 June 2015

Planned preterm delivery and treatment of retinal neovascularization in Norrie disease

scientific article

Small bowel malrotation in distal 15q duplication: evidence for a rare association

scientific article published on 01 April 2015

Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations

scientific article published on 05 September 2020

Variants of <scp><i>LRP2</i></scp>, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy

scientific article published in 2023

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