Jana Zernant - Publications, H-index & Citations

Jana Zernant

Columbia University

38H指数

119论文数

7.5K被引数

收录论文 51

发表时间

The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations AP5B1基因p.Leu785Pro变异是导致迟发性视网膜色素变性并伴有可变眼外表现的一种常见原因

Human Genetics and Genomics Advances

IF3.6

2026-08-07

OAAI

Petra Liskova; Lubica Dudakova; Karolina Kaminska; Laura Kühlewein; Stefanida Shliaga; Rina Leibu; Miriam Ehrenberg; Dinah Zur; Jana Zernant; Miriam Bauwens; Gavin Arno; Isabelle Müller; Focke Ziemssen; Viktoria Bothe; Francesca Cancellieri; Julie De Zaeytijd; Pascale Mazzola; Winston Lee; Bohdan Kousal; Marie Vajter

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2023-10-01

OAAI

Corradi, Zelia; Khan, Mubeen; Hitti-Malin, Rebekkah; Mishra, Ketan; Whelan, Laura; Cornelis, Stephanie S.; Hoyng, Carel B.; Kampjarvi, Kati; Klaver, Caroline C. W.; Liskova, Petra; Stoehr, Heidi; Weber, Bernhard H. F.; Banfi, Sandro; Farrar, G. Jane; Sharon, Dror; Zernant, Jana; Allikmets, Rando; Dhaenens, Claire-Marie; Cremers, Frans P. M.

Insights Into PROM1-Macular Disease Using Multimodal Imaging

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2023-04-24

OAAI

Paavo, Maarjaliis; Lee, Winston; Parmann, Rait; de Carvalho Jr, Jose Ronaldo Lima; Zernant, Jana; Tsang, Stephen H.; Allikmets, Rando; Sparrow, Janet R.

A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease

JCI INSIGHT

IF6.1

2022-12-08

OAAI

Kolesnikova, Masha; Oh, Jin Kyun; Wang, Jiali; Lee, Winston; Zernant, Jana; Su, Pei-Yin; Kim, Angela H.; Jenny, Laura A.; Yang, Tingting; Allikmets, Rando; Tsang, Stephen H.

Graphical abstract

JCI INSIGHT

IF6.1

2022-01-25

OAAI

Lee, Winston; Zernant, Jana; Su, Pei-Yin; Nagasaki, Takayuki; Tsang, Stephen H.; Allikmets, Rando

Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease

HUMAN MOLECULAR GENETICS

IF3.2

2021-04-28

OAAI

Lee, Winston; Zernant, Jana; Nagasaki, Takayuki; Molday, Laurie L.; Su, Pei-Yin; Fishman, Gerald A.; Tsang, Stephen H.; Molday, Robert S.; Allikmets, Rando

Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2020-04-16

OAAI

Jauregui, Ruben; Cho, Ahra; Lee, Winston; Zernant, Jana; Allikmets, Rando; Sparrow, Janet R.; Tsang, Stephen H.

Spectrum of Disease Severity and Phenotype in Choroideremia Carriers

AMERICAN JOURNAL OF OPHTHALMOLOGY

IF4.2

2019-11-01

OAAI

Jauregui, Ruben; Park, Karen Sophia; Tanaka, Akemi J.; Cho, Ahra; Paavo, Maarjaliis; Zernant, Jana; Francis, Jasmine H.; Do Allikmets, Ran; Sparrow, Janet R.; Tsang, Stephen H.

Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy 常染色体隐性PROM1视锥杆营养不良病例的特征性眼部特征

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2019-05-28

OAAI

Collison, Frederick T.; Fishman, Gerald A.; Nagasaki, Takayuki; Zernant, Jana; McAnany, J. Jason; Park, Jason C.; Allikmets, Rando

Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2018-11-27

OAAI

Allikmets, Rando; Zernant, Jana; Lee, Winston

Deep Scleral Exposure: A Degenerative Outcome of End-Stage Stargardt Disease

AMERICAN JOURNAL OF OPHTHALMOLOGY

IF4.2

2018-11-01

OAAI

Lee, Winston; Zernant, Jana; Nagasaki, Takayuki; Tsang, Stephen H.; Allikmets, Rando

Mutations in GPR143/OA1 and ABCA4 Inform Interpretations of Short-Wavelength and Near-Infrared Fundus Autofluorescence

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2018-05-18

OAAI

Paavo, Maarjaliis; Zhao, Jin; Kim, Hye Jin; Lee, Winston; Zernant, Jana; Cai, Carolyn; Allikmets, Rando; Tsang, Stephen H.; Sparrow, Janet R.

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2018-04-01

118

OAAI

Albert, Silvia; Garanto, Alejandro; Sangermano, Riccardo; Khan, Mubeen; Bax, Nathalie M.; Hoyng, Carel B.; Zernant, Jana; Lee, Winston; Allikmets, Rando; Collin, Rob W. J.; Cremers, Frans P. M.

The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease

OPHTHALMOLOGY

IF9.5

2018-01-01

OAAI

Tanaka, Koji; Lee, Winston; Zernant, Jana; Schuerch, Kaspar; Ciccone, Lyam; Tsang, Stephen H.; Sparrow, Janet R.; Allikmets, Rando

Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration

JOURNAL OF MEDICAL GENETICS

IF3.7

2017-04-26

146

OAAI

Zernant, Jana; Lee, Winston; Collison, Frederick T.; Fishman, Gerald A.; Sergeev, Yuri V.; Schuerch, Kaspar; Sparrow, Janet R.; Tsang, Stephen H.; Allikmets, Rando

Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2017-03-22

OAAI

Lee, Winston; Schuerch, Kaspar; Zernant, Jana; Collison, Frederick T.; Bearelly, Srilaxmi; Fishman, Gerald A.; Tsang, Stephen H.; Sparrow, Janet R.; Allikmets, Rando

Genome-wide analyses identify common variants associated with macular telangiectasia type 2

NATURE GENETICS

IF31.8

2017-02-27

OAAI

Scerri, Thomas S.; Quaglieri, Anna; Cai, Carolyn; Zernant, Jana; Matsunami, Nori; Baird, Lisa; Scheppke, Lea; Bonelli, Roberto; Yannuzzi, Lawrence A.; Friedlander, Martin; Egan, Catherine A.; Fruttiger, Marcus; Leppert, Mark; Allikmets, Rando; Bahlo, Melanie

In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases

HUMAN MUTATION

IF3.7

2017-02-03

104

PREAI

Cornelis, Stephanie S.; Bax, Nathalie M.; Zernant, Jana; Allikmets, Rando; Fritsche, Lars G.; den Dunnen, Johan T.; Ajmal, Muhammad; Hoyng, Carel B.; Cremers, Frans P. M.

Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2016-06-28

OAAI

Lee, Winston; Schuerch, Kaspar; Xie, Yajing (Angela); Zernant, Jana; Tsang, Stephen H.; Sparrow, Janet R.; Allikmets, Rando

Quantitative Fundus Autofluorescence and Optical Coherence Tomography in ABCA4 Carriers

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2015-11-09

OAAI

Duncker, Tobias; Stein, Gregory E.; Lee, Winston; Tsang, Stephen H.; Zernant, Jana; Bearelly, Srilaxmi; Hood, Donald C.; Greenstein, Vivienne C.; Delori, Francois C.; Allikmets, Rando; Sparrow, Janet R.

研究方向