| Whole exome sequencing reveals mutations in known retinal disease genes in 33 out of 68 Israeli families with inherited retinopathies A Beryozkin, E Shevah, A Kimchi, L Mizrahi-Meissonnier, S Khateb, ... Scientific reports 5 (1), 13187, 2015 | 72 | 2015 |
| Fetal exome sequencing: yield and limitations in a tertiary referral center H Daum, V Meiner, O Elpeleg, T Harel, Collaborating Authors, L Bar‐Or, ... Ultrasound in Obstetrics & Gynecology 53 (1), 80-86, 2019 | 52 | 2019 |
| Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa M Xu, T Yamada, Z Sun, A Eblimit, I Lopez, F Wang, H Manya, S Xu, ... Human molecular genetics 25 (8), 1479-1488, 2016 | 48 | 2016 |
| Whole-exome sequencing identifies biallelic IDH3A variants as a cause of retinitis pigmentosa accompanied by pseudocoloboma LHM Pierrache, A Kimchi, R Ratnapriya, L Roberts, GDN Astuti, ... Ophthalmology 124 (7), 992-1003, 2017 | 42 | 2017 |
| Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone–rod dystrophy in israel CH Lazar, M Mutsuddi, A Kimchi, L Zelinger, L Mizrahi-Meissonnier, ... Investigative Ophthalmology & Visual Science 56 (1), 420-430, 2015 | 36 | 2015 |
| Nonsyndromic retinitis pigmentosa in the Ashkenazi Jewish population: genetic and clinical aspects A Kimchi, S Khateb, R Wen, Z Guan, A Obolensky, A Beryozkin, ... Ophthalmology 125 (5), 725-734, 2018 | 35 | 2018 |
| Role of late amniocentesis in the era of modern genomic technologies H Daum, A Ben David, M Nadjari, S Zenvirt, S Helman, N Yanai, V Meiner, ... Ultrasound in Obstetrics & Gynecology 53 (5), 676-685, 2019 | 28 | 2019 |
| Nonsyndromic early‐onset cone‐rod dystrophy and limb‐girdle muscular dystrophy in a consanguineous israeli family are caused by two independent yet linked mutations in ALMS1 … CH Lazar, A Kimchi, P Namburi, M Mutsuddi, L Zelinger, A Beryozkin, ... Human mutation 36 (9), 836-841, 2015 | 22 | 2015 |
| A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration P Biswas, VRM Chavali, G Agnello, E Stone, C Chakarova, JL Duncan, ... Human molecular genetics 25 (12), 2483-2497, 2016 | 21 | 2016 |
| OR2W3 sequence variants are unlikely to cause inherited retinal diseases D Sharon, A Kimchi, C Rivolta Ophthalmic genetics 37 (4), 366-368, 2016 | 17 | 2016 |
| Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population M Hanany, G Allon, A Kimchi, A Blumenfeld, H Newman, E Pras, ... European Journal of Human Genetics 26 (8), 1159-1166, 2018 | 13 | 2018 |
| Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression FP Ruberto, S Balzano, P Namburi, A Kimchi, R Pescini-Gobert, ... Molecular Vision 27, 107, 2021 | 10 | 2021 |
| An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers A Kimchi, V Meiner, S Silverstein, M Macarov, H Mor-Shaked, ... Ophthalmic Genetics 40 (5), 443-448, 2019 | 9 | 2019 |
| Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children N Levinger, K Hendler, E Banin, M Hanany, A Kimchi, H Mechoulam, ... European Journal of Ophthalmology 31 (6), 3349-3354, 2021 | 3 | 2021 |
| Progressive visual loss without retinal detachment in stickler syndrome: An uncommon and novel presentation A Navarrete, A Kimchi, J Levy, V Meiner, R Amer, C Yahalom Turkish Journal of Ophthalmology 50 (6), 387, 2020 | 1 | 2020 |
| EP11. 03: the impact of late amniocentesis in the chromosomal microarray era H Daum, A Ben‐David, M Nadjari, I Lerer, S Helman, A Eilat, M Macarov, ... Ultrasound in Obstetrics & Gynecology 52, 243-244, 2018 | 1 | 2018 |
| Albinism in Israel: clinical and genetic characteristics C Yahalom, A Kimchi, M Macarov, E Shemesh, A Rosenmann, ... Investigative Ophthalmology & Visual Science 59 (9), 1831-1831, 2018 | 1 | 2018 |
| Stickler Sendromunda Retina Dekolmanı Olmaksızın Progresif Görme Kaybı: Nadir ve Yeni Bir Klinik Tablo A NAVARRETE, A KIMCHI, J LEVY, V MEINER, R AMER, C YAHALOM Türk Oftalmoloji Dergisi 50 (6), 387-389, 2020 | | 2020 |
| Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects (vol 125, pg 725, 2018) A Kimchi, S Khateb, R Wen, Z Guan, A Obolensky, A Beryozkin, ... OPHTHALMOLOGY 127 (1), 139-139, 2020 | | 2020 |
| OC20. 07: Fetal exome sequencing: yield and limitations observed in a single tertiary centre. H Daum, V Meiner, A Eilat, S Shkedi Rafid, M Macarov, N Zvi, ... Ultrasound in Obstetrics & Gynecology 52, 2018 | | 2018 |
