V. Keser

发表

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Colin A. Johnson, G. Mardon, G. Fishman, 2012, Nature Genetics.

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

S. Jacobson, G. Fishman, Rui Chen, 2013, Journal of Medical Genetics.

Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.

Fei Xu, Yumei Li, Feng Wang, 2013, Investigative ophthalmology & visual science.

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Jacqueline Pei, Cindy Wen, Kang Zhang, 2014, Human Genetics.

The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families

J. Nadaf, J. Majewski, I. Lopez, 2017, Investigative ophthalmology & visual science.

A Review of Secondary Photoreceptor Degenerations in Systemic Disease.

H. Ren, R. Koenekoop, V. Keser, 2015, Cold Spring Harbor perspectives in medicine.

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

M. Brudno, J. Tolmie, D. Sharon, 2015, Nature Communications.

Mutations inPNPLA6are linked to photoreceptor degeneration and various forms of childhood

D. Sharon, Rui Chen, P. Chinnery, 2015 .

Snap29 mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome

J. Golden, L. Jerome-Majewska, C. O’Flaherty, 2019, Communications Biology.

Loss of function mutation of mouse Snap29 on a mixed genetic background phenocopy abnormalities found in CEDNIK and 22q11.2 Deletion Syndrome patients

L. Jerome-Majewska, C. O’Flaherty, Jean-François Boisclair Lachance, 2019, bioRxiv.

WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome

J. Majewski, F. Hildebrandt, E. Otto, 2013, Clinical genetics.

Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities.

H. Vali, J. Majewski, J. Schwartzentruber, 2015, Investigative ophthalmology & visual science.

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Jacqueline Pei, Cindy Wen, Kang Zhang, 2013, Human Genetics.

Snap29 mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome

J. Golden, L. Jerome-Majewska, C. O’Flaherty, 2019, Communications Biology.

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

M. Brudno, J. Tolmie, D. Sharon, 2015, Nature Communications.