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Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.
Published in:
Scientific Reports, 2015, p. 13187, doi. 10.1038/srep13187
By:
- Beryozkin, Avigail;
- Shevah, Elia;
- Kimchi, Adva;
- Mizrahi-Meissonnier, Liliana;
- Khateb, Samer;
- Ratnapriya, Rinki;
- Lazar, Csilla H.;
- Blumenfeld, Anat;
- Ben-Yosef, Tamar;
- Hemo, Yitzhak;
- Pe'er, Jacob;
- Averbuch, Eduard;
- Sagi, Michal;
- Boleda, Alexis;
- Gieser, Linn;
- Zlotogorski, Abraham;
- Falik-Zaccai, Tzipora;
- Alimi-Kasem, Ola;
- Jacobson, Samuel G.;
- Chowers, Itay
Publication type:
Article
Role of late amniocentesis in the era of modern genomic technologies.
Published in:
2019
By:
- collaborating authors;
- Daum, H.;
- Zenvirt, S.;
- Meiner, V.;
- Frumkin, A.;
- Shkedi Rafid, S.;
- Ben David, A.;
- Nadjari, M.;
- Yanai, N.;
- Yagel, S.;
- Helman, S.;
- Silverstein, Shira;
- Eilat, Avital;
- Macarov, Michal;
- Zvi, Naama;
- Szmulewicz, Adi;
- Fahham, Duha;
- Hacohen, Nuphar;
- Kimchi, Adva;
- Shaag, Avraham
Publication type:
journal article
Fetal exome sequencing: yield and limitations in a tertiary referral center.
Published in:
2019
By:
- Daum, H.;
- Meiner, V.;
- Elpeleg, O.;
- Harel, T.;
- Bar‐Or, Libat;
- Eilat, Avital;
- Fahham, Duha;
- Gur, Michal;
- Hacohen, Nuphar;
- Kimchi, Adva;
- Macarov, Michal;
- Porat, Shay;
- Rosenak, Daniel;
- Shaag, Avraham;
- Shkedi‐Rafid, Shiri;
- Szmulewicz, Adi;
- Yagel, Simcha;
- Yanai, Nili;
- Zvi, Naama;
- Banne, Ehud
Publication type:
journal article
Progressive Visual Loss Without Retinal Detachment in Stickler Syndrome: An Uncommon and Novel Presentation.
Published in:
Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2020, v. 50, n. 6, p. 387, doi. 10.4274/tjo.galenos.2020.33858
By:
- Navarrete, Ana;
- Kimchi, Adva;
- Levy, Jaime;
- Meiner, Vardiella;
- Amer, Radgonde;
- Yahalom, Claudia
Publication type:
Article
Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression.
Published in:
Molecular Vision, 2021, v. 27, p. 107
By:
- Ruberto, Francesco Paolo;
- Balzano, Sara;
- Namburi, Prasanthi;
- Kimchi, Adva;
- Pescini-Gobert, Rosanna;
- Obolensky, Alexey;
- Banin, Eyal;
- Ben-Yosef, Tamar;
- Sharon, Dror;
- Rivolta, Carlo
Publication type:
Article
Amissense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 12, p. 2483, doi. 10.1093/hmg/ddw113
By:
- Biswas, Pooja;
- Murthy Chavali, Venkata Ramana;
- Agnello, Giulia;
- Stone, Everett;
- Chakarova, Christina;
- Duncan, Jacque L.;
- Kannabiran, Chitra;
- Homsher, Melissa;
- Bhattacharya, Shomi S.;
- Naeem, Muhammad Asif;
- Kimchi, Adva;
- Sharon, Dror;
- Takeshi Iwata;
- Riazuddin, Shaikh;
- Reddy, G. Bhanuprakash;
- Hejtmancik, J. Fielding;
- Georgiou, George;
- Riazuddin, S. Amer;
- Ayyagari, Radha
Publication type:
Article
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 8, p. 1479, doi. 10.1093/hmg/ddw022
By:
- Mingchu Xu;
- Takeyuki Yamada;
- Zixi Sun;
- Aiden Eblimit;
- Irma Lopez;
- Feng Wang;
- Hiroshi Manya;
- Shan Xu;
- Li Zhao;
- Yumei Li;
- Adva Kimchi;
- Dror Sharon;
- Ruifang Sui;
- Tamao Endo;
- Koenekoop, Robert K.;
- Rui Chen
Publication type:
Article
Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.
Published in:
European Journal of Ophthalmology, 2021, v. 31, n. 6, p. 3349, doi. 10.1177/1120672120977343
By:
- Levinger, Nadav;
- Hendler, Karen;
- Banin, Eyal;
- Hanany, Mor;
- Kimchi, Adva;
- Mechoulam, Hadas;
- Meiner, Vardiella;
- Parag, Yoav;
- Sharon, Dror;
- Macarov, Michal;
- Yahalom, Claudia
Publication type:
Article
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 and DYSF.
Published in:
Human Mutation, 2015, v. 36, n. 9, p. 836, doi. 10.1002/humu.22822
By:
- Lazar, Csilla H.;
- Kimchi, Adva;
- Namburi, Prasanthi;
- Mutsuddi, Mousumi;
- Zelinger, Lina;
- Beryozkin, Avigail;
- Ben‐Simhon, Shiran;
- Obolensky, Alexey;
- Ben‐Neriah, Ziva;
- Argov, Zohar;
- Pikarsky, Eli;
- Fellig, Yakov;
- Marks‐Ohana, Devorah;
- Ratnapriya, Rinki;
- Banin, Eyal;
- Sharon, Dror;
- Swaroop, Anand
Publication type:
Article

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