Anupreet Tumber

发表

Attentional demands modulate sensorimotor learning induced by persistent exposure to changes in auditory feedback.

Jeffery A. Jones, N. Scheerer, Anupreet Tumber, 2016, Journal of neurophysiology.

The relationship between vocal pitch feedback error and event-related brain potentials

Jeffery A. Jones, N. Scheerer, Anupreet Tumber, 2013 .

Rod bipolar cell dysfunction in POLG retinopathy

N. Sondheimer, A. Vincent, R. Klatt, 2020, Documenta Ophthalmologica.

Ocular phenotype and electroretinogram abnormalities in Lafora disease

P. Striano, S. Ahonen, B. Minassian, 2018, Neurology.

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.

J. Sahel, E. Héon, I. Audo, 2016, American journal of human genetics.

Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization

Michael D. Wilson, E. Héon, Alexander Pearson, 2020, Investigative ophthalmology & visual science.

Optic Atrophy and Inner Retinal Thinning in CACNA1F-Related Congenital Stationary Night Blindness

J. R. Buncic, E. Héon, I. Audo, 2021, Genes.

CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency

E. Héon, A. Vincent, N. Roslin, 2020, Ophthalmic genetics.

Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes

K. Martemyanov, A. Schulze, A. Vincent, 2021, Genes.

Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa

C. Marshall, Birgit B Ertl-Wagner, E. Mayatepek, 2022, Clinical genetics.

Bilateral compressive optic neuropathy and outer retinopathy due to optic canal hyperostosis in a child with isolated vitamin a deficiency

Birgit B Ertl-Wagner, A. Vincent, Michael J. Wan, 2023, Documenta Ophthalmologica.

Evaluation of light- and dark-adapted ERGs using a mydriasis-free, portable system: clinical classifications and normative data

C. Westall, A. Vincent, T. Wright, 2018, Documenta Ophthalmologica.

Unique retinal signaling defect in GNB5-related disease

E. Héon, A. Vincent, J. Maynes, 2019, Documenta Ophthalmologica.

Gesturing about number sense

Joanne Lee, D. Kotsopoulos, Samantha Makosz, 2015 .

Attentional Demands Influence Vocal Compensations to Pitch Errors Heard in Auditory Feedback

Jeffery A. Jones, N. Scheerer, Anupreet Tumber, 2014, PloS one.

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

T. Aleman, S. Jacobson, J. Duncan, 2021, Investigative ophthalmology & visual science.

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.

A. D. den Hollander, C. Westall, F. Cremers, 2016, Investigative ophthalmology & visual science.

Retinal Phenotyping of a Murine Model of Lafora Disease

K. Ahmed, B. Minassian, A. Vincent, 2023, Genes.

Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage

P. Striano, R. Michelucci, F. Zara, 2022, Journal of Neurology.

Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome.

E. Héon, A. Vincent, C. Roifman, 2023, Eye.