Identification of a homozygous VRK1 mutation in two patients with adult‐onset distal hereditary motor neuropathy
Greenbaum, Lior, Barel, Ortal, Nikitin, Vera, Hersalis‐Eldar, Adi, Kol, Nitzan, Reznik‐Wolf, Haike, Dominissini, Dan, Pras, Elon, Dori, Amir
Published in Muscle & nerve (01.03.2020)
Published in Muscle & nerve (01.03.2020)
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The role of orotic acid measurement in routine newborn screening for urea cycle disorders
Staretz‐Chacham, Orna, Daas, Suha, Ulanovsky, Igor, Blau, Ayala, Rostami, Nira, Saraf‐Levy, Talya, Abu Salah, Nasser, Anikster, Yair, Banne, Ehud, Dar, Dalit, Dumin, Elena, Fattal‐Valevski, Aviva, Falik‐Zaccai, Tzipora, Hershkovitz, Eli, Josefsberg, Sagi, Khammash, Hatem, Keidar, Rimona, Korman, Stanley H., Landau, Yuval, Lerman‐Sagie, Tally, Mandel, Dror, Mandel, Hanna, Marom, Ronella, Morag, Iris, Nadir, Erez, Yosha‐Orpaz, Naama, Pode‐Shakked, Ben, Pras, Elon, Reznik‐Wolf, Haike, Saada, Ann, Segel, Reeval, Shaag, Avraham, Shaul Lotan, Nava, Spiegel, Ronen, Tal, Galit, Vaisid, Taly, Zeharia, Avi, Almashanu, Shlomo
Published in Journal of inherited metabolic disease (01.05.2021)
Published in Journal of inherited metabolic disease (01.05.2021)
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Journal Article
Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population
Greenbaum, Lior, Ben‐David, Merav, Nikitin, Vera, Gera, Orna, Barel, Ortal, Hersalis‐Eldar, Adi, Shamash, Jana, Shimshoviz, Noam, Reznik‐Wolf, Haike, Shohat, Mordechai, Dominissini, Dan, Pras, Elon, Dori, Amir
Published in Annals of clinical and translational neurology (01.06.2021)
Published in Annals of clinical and translational neurology (01.06.2021)
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Journal Article
Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10‐year period
Eyal, Ori, Berkenstadt, Michal, Reznik‐Wolf, Haike, Poran, Hana, Ziv‐Baran, Tomer, Greenbaum, Lior, Yonath, Hagit, Pras, Elon
Published in Molecular genetics & genomic medicine (01.04.2019)
Published in Molecular genetics & genomic medicine (01.04.2019)
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Journal Article
Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis
Oz-Levi, Danit, Ben-Zeev, Bruria, Ruzzo, Elizabeth K., Hitomi, Yuki, Gelman, Amir, Pelak, Kimberly, Anikster, Yair, Reznik-Wolf, Haike, Bar-Joseph, Ifat, Olender, Tsviya, Alkelai, Anna, Weiss, Meira, Ben-Asher, Edna, Ge, Dongliang, Shianna, Kevin V., Elazar, Zvulun, Goldstein, David B., Pras, Elon, Lancet, Doron
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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Journal Article
Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns
Rock, Rachel, Rock, Oded, Daas, Suha, Biton-Regev, Vered, Sagiv, Nadav, Salah, Nasser Abu, Anikster, Yair, Barel, Ortal, Cohen, Ronen Hady, Dumin, Elena, Fattal-Valevski, Aviva, Falik-Zaccai, Tzipora, Herskovitz, Eli, Josefsberg, Sagi, Khammash, Hatem, Kneller, Katya, Korman, Stanley H, Landau, Yuval E, Lerman-Sagie, Tally, Mandel, Hanna, Pras, Elon, Reznik-Wolf, Haike, Shaag, Avraham, Lotan, Nava Shaul, Spiegel, Ronen, Tal, Galit, Staretz-Chacham, Orna, Wilnai, Yael, Almashanu, Shlomo
Published in Journal of inherited metabolic disease (24.09.2024)
Published in Journal of inherited metabolic disease (24.09.2024)
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A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
Pode-Shakked, Ben, Barel, Ortal, Singer, Amihood, Regev, Miriam, Poran, Hana, Eliyahu, Aviva, Finezilber, Yael, Segev, Meirav, Berkenstadt, Michal, Yonath, Hagith, Reznik-Wolf, Haike, Gazit, Yael, Chorin, Odelia, Heimer, Gali, Gabis, Lidia V., Tzadok, Michal, Nissenkorn, Andreea, Bar-Yosef, Omer, Zohar-Dayan, Efrat, Ben-Zeev, Bruria, Mor, Nofar, Kol, Nitzan, Nayshool, Omri, Shimshoviz, Noam, Bar-Joseph, Ifat, Marek-Yagel, Dina, Javasky, Elisheva, Einy, Reviva, Gal, Moran, Grinshpun-Cohen, Julia, Shohat, Mordechai, Dominissini, Dan, Raas-Rothschild, Annick, Rechavi, Gideon, Pras, Elon, Greenbaum, Lior
Published in Scientific reports (27.09.2021)
Published in Scientific reports (27.09.2021)
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Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families
Greenbaum, Lior, Pode-Shakked, Ben, Eisenberg-Barzilai, Shlomit, Dicastro-Keidar, Michal, Bar-Ziv, Anat, Goldstein, Nurit, Reznik-Wolf, Haike, Poran, Hana, Rigbi, Amihai, Barel, Ortal, Bertoli-Avella, Aida M, Bauer, Peter, Regev, Miriam, Raas-Rothschild, Annick, Pras, Elon, Berkenstadt, Michal
Published in Frontiers in genetics (25.06.2019)
Published in Frontiers in genetics (25.06.2019)
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Journal Article
Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome
Abu, Almogit, Frydman, Moshe, Marek, Dina, Pras, Eran, Nir, Uri, Reznik-Wolf, Haike, Pras, Elon
Published in American journal of human genetics (01.05.2008)
Published in American journal of human genetics (01.05.2008)
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Journal Article
Renal Hypodysplasia Associates with a Wnt4 Variant that Causes Aberrant Canonical Wnt Signaling
VIVANTE, Asaf, MARK-DANIELI, Michal, EISENSTEIN, Israel, SOUDACK, Michalle, REZNIK WOLF, Haike, ISSLER, Naomi, LOAN, Danny, ANIKSTER, Yair, DEKEL, Benjamin, DAVIDOVITS, Miriam, HARARI-STEINBERG, Orit, OMER, Dorit, GNATEK, Yehudit, CLEPER, Roxana, LANDAU, Daniel, KOVALSKI, Yael, WEISSMAN, Irit
Published in Journal of the American Society of Nephrology (01.04.2013)
Published in Journal of the American Society of Nephrology (01.04.2013)
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Screening of human pluripotent stem cells using CGH and FISH reveals low-grade mosaic aneuploidy and a recurrent amplification of chromosome 1q
DEKEL-NAFTALI, Michal, AVIRAM-GOLDRING, Ayala, SCHIFF, Eyal, RIENSTEIN, Shlomit, LITMANOVITCH, Talia, SHAMASH, Jana, REZNIK-WOLF, Haike, LAEVSKY, Ilana, AMIT, Michal, ITSKOVITZ-ELDOR, Joseph, YUNG, Yuval, HOURVITZ, Ariel
Published in European journal of human genetics : EJHG (01.12.2012)
Published in European journal of human genetics : EJHG (01.12.2012)
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Journal Article
Clinical disease among patients heterozygous for familial mediterranean fever
Marek‐Yagel, Dina, Berkun, Yackov, Padeh, Shai, Abu, Almogit, Reznik‐Wolf, Haike, Livneh, Avi, Pras, Mordechai, Pras, Elon
Published in Arthritis and rheumatism (01.06.2009)
Published in Arthritis and rheumatism (01.06.2009)
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Journal Article
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing
Gal, Moran, Khermesh, Khen, Barak, Michal, Lin, Min, Lahat, Hadas, Reznik Wolf, Haike, Lin, Michael, Pras, Elon, Levanon, Erez Y
Published in BMC medical genomics (13.05.2016)
Published in BMC medical genomics (13.05.2016)
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Journal Article
Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean Fever
Marek‐Yagel, Dina, Berkun, Yackov, Padeh, Shai, Lidar, Merav, Shinar, Yael, Bar‐Joseph, Ifat, Reznik‐Wolf, Haike, Langevitz, Pnina, Livneh, Avi, Pras, Elon
Published in Arthritis care & research (2010) (01.09.2010)
Published in Arthritis care & research (2010) (01.09.2010)
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Journal Article
Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy
Yonath, Hagith, Reznik-Wolf, Haike, Berkenstadt, Michal, Eisenberg-Barzilai, Shlomit, Lehtokari, Vilma-Lotta, Wallgren-Pettersson, Carina, Mehta, Lakshmi, Achiron, Reuven, Gilboa, Yinon, Polak-Charcon, Sylvie, Winder, Thomas, Frydman, Moshe, Pras, Elon
Published in Prenatal diagnosis (01.01.2012)
Published in Prenatal diagnosis (01.01.2012)
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Journal Article
Mapping of a Gene Causing Brittle Cornea Syndrome in Tunisian Jews to 16q24
Abu, Almogit, Frydman, Moshe, Marek, Dina, Pras, Eran, Stolovitch, Chaim, Aviram-Goldring, Ayala, Rienstein, Shlomit, Reznik-Wolf, Haike, Pras, Elon
Published in Investigative ophthalmology & visual science (01.12.2006)
Published in Investigative ophthalmology & visual science (01.12.2006)
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Journal Article
Salt-Losing 21-Hydroxylase Deficiency Caused by Double Homozygosity for Two “Mild” Mutations
Ilany, Jacob, Liu, Jiayan, Welsch, Christoph, Reznik-Wolf, Haike, Levy-Lahad, Ephrat, Auchus, Richard J
Published in The journal of clinical endocrinology and metabolism (01.02.2021)
Published in The journal of clinical endocrinology and metabolism (01.02.2021)
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Journal Article
Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects
Simon, Amos J, Lev, Atar, Zhang, Yong, Weiss, Batia, Rylova, Anna, Eyal, Eran, Kol, Nitzan, Barel, Ortal, Cesarkas, Keren, Soudack, Michalle, Greenberg-Kushnir, Noa, Rhodes, Michele, Wiest, David L, Schiby, Ginette, Barshack, Iris, Katz, Shulamit, Pras, Elon, Poran, Hana, Reznik-Wolf, Haike, Ribakovsky, Elena, Simon, Carlos, Hazou, Wadi, Sidi, Yechezkel, Lahad, Avishay, Katzir, Hagar, Sagie, Shira, Aqeilan, Haifa A, Glousker, Galina, Amariglio, Ninette, Tzfati, Yehuda, Selig, Sara, Rechavi, Gideon, Somech, Raz
Published in The Journal of experimental medicine (25.07.2016)
Published in The Journal of experimental medicine (25.07.2016)
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Journal Article
Expanded targeted preconception screening panel in Israel: findings and insights
Reches, Adi, Ofen Glassner, Vered, Goldstein, Nurit, Yeshaya, Josepha, Delmar, Galit, Portugali, Ellie, Hallas, Tova, Weinstein, Amit, Kurolap, Alina, Berkenstadt, Michal, Mantsour, Tal, Abu-Gutstein, Liat, Ries-Levavi, Liat, Reznik-Wolf, Haike, Behar, Doron Moshe, Yaron, Yuval, Pras, Elon, Baris Feldman, Hagit
Published in Journal of medical genetics (01.08.2024)
Published in Journal of medical genetics (01.08.2024)
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