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ArticlesPeer ReviewedFull Text
Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations
Author / Creator:Moran, Hausman-Kedem ; Ben-Sira Liat ; Kidron Debora ; Ben-Shachar, Shay ; Straussberg Rachel ; Marom Daphna ; Ponger Penina ; Bar-Shira Anat ; Malinger Gustavo ; Fattal-Valevski Aviva
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-11, Vol.29 (11), p.1654-1662
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ArticlesPeer ReviewedFull Text
Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center
Author / Creator:Michaelson-Cohen, Rachel ; Salzer-Sheelo, Liat ; Sukenik-Halevy, Rivka ; Koifman, Arie ; Fellner, Avi ; Reches, Adi ; Marom, Daphna ; Behar, Doron M. ; Sofrin-Drucker, Efrat ; Zaks-Hoffer, Gal ; Weiss-Hubshmann, Monika ; Oresntein, Naama ; Kropach-Gilad, Nesia ; Rhurman-Shahar, Noa ; Averbuch, Noa Shefer ; Magal, Nurit ; Bazak, Lily ; Josefberg, Sagi ; Matar, Reut ; Goldberg, Yael ; Shohat, Mordechai ; Basel-Salmon, Lina ; Maya, Idit
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2020-10, Vol.22 (10), p.1703-1709
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ArticlesPeer ReviewedFull Text
Biallelic loss of EMC10 leads to mild to severe intellectual disability
Author / Creator:Kaiyrzhanov, Rauan ; Rocca, Clarissa ; Suri, Mohnish ; Gulieva, Sughra ; Zaki, Maha S. ; Henig, Noa Z. ; Siquier, Karine ; Guliyeva, Ulviyya ; Mounir, Samir M. ; Marom, Daphna ; Allahverdiyeva, Aynur ; Megahed, Hisham ; Bokhoven, Hans ; Cantagrel, Vincent ; Rad, Aboulfazl ; Pourkeramti, Alemeh ; Dehghani, Boshra ; Shao, Diane D. ; Markus‐Bustani, Keren ; Sofrin‐Drucker, Efrat ; Orenstein, Naama ; Salayev, Kamran ; Arrigoni, Filippo ; Houlden, Henry ; Maroofian, Reza
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2022-07, Vol.9 (7), p.1080-1089
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ArticlesPeer ReviewedFull Text
Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis
Author / Creator:Barel, Dalit ; Marom, Daphna ; Ponger, Penina ; Kurolap, Alina ; Bar-Shira, Anat ; Kaplan-Ber, Idit ; Mory, Adi ; Abramovich, Beatrice ; Yaron, Yuval ; Drory, Vivian ; Baris Feldman, Hagit
Publisher:Heidelberg: Springer Nature B.V
Journal title:Journal of neurology, 2024-07, Vol.271 (7), p.4258-4266
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ArticlesPeer ReviewedFull Text
Cardiac screening in pediatric patients with neurofibromatosis type 1: similarities with Noonan syndrome?
Author / Creator:Kapusta, Livia ; Beer, Gil ; Rothschild, Ehud ; Baruch, Guy ; Barkay, Gili ; Marom, Daphna ; Grinshpun-Cohen, Yulia ; Raskind, Craig ; Constantini, Shlomi ; Toledano-Alhadef, Hagit
Publisher:Dordrecht: Springer Netherlands
Journal title:The international journal of cardiovascular imaging, 2024-07, Vol.40 (7), p.1475-1482
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ArticlesPeer ReviewedFull Text
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
Author / Creator:Rice, Gillian I ; Bond, Jacquelyn ; Asipu, Aruna ; Brunette, Rebecca L ; Manfield, Iain W ; Carr, Ian M ; Fuller, Jonathan C ; Jackson, Richard M ; Lamb, Teresa ; Briggs, Tracy A ; Ali, Manir ; Gornall, Hannah ; Couthard, Lydia R ; Aeby, Alec ; Attard-Montalto, Simon P ; Bertini, Enrico ; Bodemer, Christine ; Brockmann, Knut ; Brueton, Louise A ; Corry, Peter C ; Desguerre, Isabelle ; Fazzi, Elisa ; Cazorla, Angels Garcia ; Gener, Blanca ; Hamel, Ben C J ; Heiberg, Arvid ; Hunter, Matthew ; van der Knaap, Marjo S ; Kumar, Ram ; Lagae, Lieven ; Landrieu, Pierre G ; Lourenco, Charles M ; Marom, Daphna ; McDermott, Michael F ; van der Merwe, William ; Orcesi, Simona ; Prendiville, Julie S ; Rasmussen, Magnhild ; Shalev, Stavit A ; Soler, Doriette M ; Shinawi, Marwan ; Spiegel, Ronen ; Tan, Tiong Y ; Vanderver, Adeline ; Wakeling, Emma L ; Wassmer, Evangeline ; Whittaker, Elizabeth ; Lebon, Pierre ; Stetson, Daniel B ; Bonthron, David T ; Crow, Yanick J
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2009-07, Vol.41 (7), p.829-832
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ArticlesPeer ReviewedFull Text
Infective Endocarditis in Previously Healthy Children With Structurally Normal Hearts
Author / Creator:Marom, Daphna ; Ashkenazi, Shai ; Samra, Zmira ; Birk, Einat
Publisher:Boston: Springer US
Journal title:Pediatric cardiology, 2013-08, Vol.34 (6), p.1415-1421
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ArticlesPeer ReviewedFull Text
The National Autism Database of Israel: a Resource for Studying Autism Risk Factors, Biomarkers, Outcome Measures, and Treatment Efficacy
Author / Creator:Dinstein Ilan ; Arazi Ayelet ; Golan, Hava M ; Koller Judah ; Elliott, Evan ; Gozes Illana ; Shulman, Cory ; Shifman Sagiv ; Raz Raanan ; Davidovitch Nadav ; Gev Tali ; Aran Adi ; Stolar Orit ; Ben-Itzchak, Esther ; Snir Irit Mor ; Israel-Yaacov, Sandra ; Bauminger-Zviely Nirit ; Bonneh, Yoram S ; Gal Eynat ; Shamay-Tsoory Simone ; Zait Anat Zaidman ; Hadad Bat Sheva ; Gross, Raz ; Faroy Michal ; Bachmat Eitan ; Alal, Eran ; Uzefovsky Florina ; Flusser Hagit ; Analya, Michaelovski ; Levine, Stephen Z ; Arad, Kodesh ; Gothelf Doron ; Marom Daphna ; Feldman, Hagit Baris ; Yosef, Dalit Ben ; Bloch, Aviva Mimouni ; Sadaka Yair ; Chen, Schtaierman ; Davidovitch, Michael ; Begin Michal ; Gabis, Lidia V ; Ditza, Zachor ; Idan, Menashe ; Golan Ofer ; Meiri Gal
Publisher:Totowa: Springer Nature B.V
Journal title:Journal of molecular neuroscience, 2020-09, Vol.70 (9), p.1303-1312
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ArticlesPeer ReviewedFull Text
National Rapid Genome Sequencing in Neonatal Intensive Care
Author / Creator:Marom, Daphna ; Mory, Adi ; Reytan-Miron, Sivan ; Amir, Yam ; Kurolap, Alina ; Cohen, Julia Grinshpun ; Morhi, Yocheved ; Smolkin, Tatiana ; Cohen, Lior ; Zangen, Shmuel ; Shalata, Adel ; Riskin, Arieh ; Peleg, Amir ; Lavie-Nevo, Karen ; Mandel, Dror ; Chervinsky, Elana ; Fisch, Clari Felszer ; Fleisher Sheffer, Vered ; Falik-Zaccai, Tzipora C. ; Rips, Jonathan ; Shlomai, Noa Ofek ; Friedman, Smadar Eventov ; Shporen, Calanit Hershkovich ; Ben-Yehoshua, Sagie Josefsberg ; Simmonds, Aryeh ; Yaacobi, Racheli Goldfarb ; Bauer-Rusek, Sofia ; Omari, Hussam ; Weiss, Karin ; Hochwald, Ori ; Koifman, Arie ; Globus, Omer ; Batzir, Nurit Assia ; Yaron, Naveh ; Segel, Reeval ; Morag, Iris ; Reish, Orit ; Eliyahu, Aviva ; Leibovitch, Leah ; Schwartz, Marina Eskin ; Abramsky, Ramy ; Hochberg, Amit ; Oron, Anat ; Banne, Ehud ; Portnov, Igor ; Samra, Nadra Nasser ; Singer, Amihood ; Baris Feldman, Hagit
Publisher:United States: American Medical Association
Journal title:JAMA network open, 2024-02, Vol.7 (2), p.e240146
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ArticlesPeer ReviewedFull Text
Low Estriol Levels in the Maternal Triple-Marker Screen as a Predictor of Isolated Adrenocorticotropic Hormone Deficiency Caused by a New Mutation in the TPIT Gene
Author / Creator:Weintrob, Naomi ; Drouin, Jacques ; Vallette-Kasic, Sophie ; Taub, Ellen ; Marom, Daphna ; Lebenthal, Yael ; Klinger, Gil ; Bron-Harlev, Efrat ; Shohat, Mordechai
Publisher:United States: Am Acad Pediatrics
Journal title:Pediatrics (Evanston), 2006-02, Vol.117 (2), p.e322-e327
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ArticlesPeer ReviewedFull Text
Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene
Author / Creator:Weintrob, Naomi ; Drouin, Jacques ; Vallette-Kasic, Sophie ; Taub, Ellen ; Marom, Daphna ; Lebenthal, Yael ; Klinger, Gil ; Bron-Harlev, Efrat ; Shohat, Mordechai
Publisher:Evanston: American Academy of Pediatrics
Journal title:Pediatrics (Evanston), 2006-02, Vol.117 (2), p.512
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Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations

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Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center

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Biallelic loss of EMC10 leads to mild to severe intellectual disability

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Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis

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Cardiac screening in pediatric patients with neurofibromatosis type 1: similarities with Noonan syndrome?

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Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

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Infective Endocarditis in Previously Healthy Children With Structurally Normal Hearts

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The National Autism Database of Israel: a Resource for Studying Autism Risk Factors, Biomarkers, Outcome Measures, and Treatment Efficacy

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National Rapid Genome Sequencing in Neonatal Intensive Care

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Low Estriol Levels in the Maternal Triple-Marker Screen as a Predictor of Isolated Adrenocorticotropic Hormone Deficiency Caused by a New Mutation in the TPIT Gene

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Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene

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