Fetal exome sequencing: yield and limitations in a tertiary referral center
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, Ben‐Yehoshua, Sagi Josefsberg, Ephron, Noa, Lev, Dorit, Drugan, Arie, Irge, Dana, Mordechai, Shikma, Yehuda, Adi Ben, Freireich, Orit, Segel, Reeval
Published in Ultrasound in obstetrics & gynecology (01.01.2019)
Published in Ultrasound in obstetrics & gynecology (01.01.2019)
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Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children
Gozes, I, Van Dijck, A, Hacohen-Kleiman, G, Grigg, I, Karmon, G, Giladi, E, Eger, M, Gabet, Y, Pasmanik-Chor, M, Cappuyns, E, Elpeleg, O, Kooy, R F, Bedrosian-Sermone, S
Published in Translational psychiatry (21.02.2017)
Published in Translational psychiatry (21.02.2017)
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The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis
Shamriz, O., Shaag, A., Yaacov, B., NaserEddin, A., Weintraub, M., Elpeleg, O., Stepensky, P.
Published in Clinical genetics (01.07.2017)
Published in Clinical genetics (01.07.2017)
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Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation
Saada, A, Shaag, A, Arnon, S, Dolfin, T, Miller, C, Fuchs-Telem, D, Lombes, A, Elpeleg, O
Published in Journal of medical genetics (01.12.2007)
Published in Journal of medical genetics (01.12.2007)
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Journal Article
OC07.07: Exome sequencing for structurally normal fetuses: yields and dilemmas
Daum, H., Harel, T., Eilat, A., Fahham, D., Gershon‐ Naamat, S., Basal, A., Rosenbluh, C., Yanai, N., Porat, S., Kabiri, D., Yagel, S., Valsky, D.V., Elpeleg, O., Meiner, V., Mor‐Shaked, H.
Published in Ultrasound in obstetrics & gynecology (01.09.2022)
Published in Ultrasound in obstetrics & gynecology (01.09.2022)
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Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small‐platelet thrombocytopenia
Levin, C., Koren, A., Pretorius, E., Rosenberg, N., Shenkman, B., Hauschner, H., Zalman, L., Khayat, M., Salama, I., Elpeleg, O., Shalev, S.
Published in Journal of thrombosis and haemostasis (01.07.2015)
Published in Journal of thrombosis and haemostasis (01.07.2015)
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Mitochondrial epileptic encephalopathy, 3‐methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations
Shahrour, M.A., Staretz‐Chacham, O., Dayan, D., Stephen, J., Weech, A., Damseh, N., Pri Chen, H., Edvardson, S., Mazaheri, S., Saada, A., Hershkovitz, E., Shaag, A., Huizing, M., Abu‐Libdeh, B., Gahl, W.A, Azem, A., Anikster, Y., Vilboux, T., Elpeleg, O., Malicdan, M.C.
Published in Clinical genetics (01.05.2017)
Published in Clinical genetics (01.05.2017)
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Journal Article
Severe infantile male encephalopathy is a result of early post-zygotic WDR45 somatic mutation
Spiegel, R., Shalev, S., Bercovich, D., Rabinovich, D., Khayat, M., Shaag, A., Elpeleg, O.
Published in Clinical genetics (01.12.2016)
Published in Clinical genetics (01.12.2016)
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Journal Article
Extending the clinical and immunological phenotype of human interleukin-21 receptor deficiency
Stepensky, Polina, Keller, Baerbel, Abuzaitoun, Omar, Shaag, Avraham, Yaacov, Barak, Unger, Susanne, Seidl, Maximilian, Rizzi, Marta, Weintraub, Michael, Elpeleg, Orly, Warnatz, Klaus
Published in Haematologica (Roma) (01.02.2015)
Published in Haematologica (Roma) (01.02.2015)
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TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome
Spiegel, Ronen, Khayat, Morad, Shalev, Stavit A, Horovitz, Yoseph, Mandel, Hanna, Hershkovitz, Eli, Barghuti, Flora, Shaag, Avraham, Saada, Ann, Korman, Stanley H, Elpeleg, Orly, Yatsiv, Ido
Published in Journal of medical genetics (01.03.2011)
Published in Journal of medical genetics (01.03.2011)
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Journal Article
OC20.07: Fetal exome sequencing: yield and limitations observed in a single tertiary centre
Daum, H., Meiner, V., Eilat, A., Shkedi Rafid, S., Macarov, M., Zvi, N., Szmulewicz, A., Fahham, D., Hacohen, N., Kimchi, A., Shaag, A., Gur, M., Bar‐Or, L., Josefsberg Ben‐Yehoshua, S., Banne, E., Lev, D., Ephron, N., Drugan, A., Segel, R., Rosenak, D., Porat, S., Yanai, N., Yagel, S., Elpeleg, O., Harel, T.
Published in Ultrasound in obstetrics & gynecology (01.10.2018)
Published in Ultrasound in obstetrics & gynecology (01.10.2018)
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Journal Article
Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children
Gozes, I, Van Dijck, A, Hacohen-Kleiman, G, Grigg, I, Karmon, G, Giladi, E, Eger, M, Gabet, Y, Pasmanik-Chor, M, Cappuyns, E, Elpeleg, O, Kooy, R F, Bedrosian-Sermone, S
Published in Translational psychiatry (04.07.2017)
Published in Translational psychiatry (04.07.2017)
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PP05.11 – 3025: A new syndrome with postnatal microcephaly, mental retardation, spastic quadriplegia and pontocerebellar atrophy in Caucasus-Jewish families
Fattal-Valevski, A, Ben-Sira, L, Straussberg, R, Edvardson, S, Mimouni-Bloch, A, Kaufmann, R, Mandel, H, Konen, O, Fox, J, Elpeleg, O, Ben-Zeev, B
Published in European journal of paediatric neurology (01.05.2015)
Published in European journal of paediatric neurology (01.05.2015)
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P.6.9 Childhood relapsing immune-mediated polyneuropathy and hemolysis is associated with CD59 deficiency
Nevo, Y, Ben-Zeev, B, Tabib, A, Straussberg, R, Anikster, Y, Shorer, Z, Fattal-Valevski, A, Ta-Shma, A, Aharoni, S, Rabie, M, Zenvrit, S, Goldshmidt, H, Felig, Y, Shaag, A, Mevorach, D, Elpeleg, O
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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The spectrum of mutations of the aspartoacylase gene in Canavan disease in non‐Jewish patients
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Journal Article
Conference Proceeding
Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations?
Grover, Z., Lewindon, P., Clousten, A., Shaag, A., Elpeleg, O., Coman, D.
Published in JIMD Reports, Volume 21 (01.01.2015)
Published in JIMD Reports, Volume 21 (01.01.2015)
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Book Chapter
Journal Article
Glutaric aciduria type I in the arab and jewish communities in Israel
ANIKSTER, Y, SHAAG, A, JOSEPH, A, MANDEL, H, BEN-ZEEV, B, CHRISTENSEN, E, ELPELEG, O. N
Published in American journal of human genetics (01.11.1996)
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Published in American journal of human genetics (01.11.1996)
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