Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine
Kurolap, Alina, Armbruster, Anja, Hershkovitz, Tova, Hauf, Katharina, Mory, Adi, Paperna, Tamar, Hannappel, Ewald, Tal, Galit, Nijem, Yusif, Sella, Ella, Mahajnah, Muhammad, Ilivitzki, Anat, Hershkovitz, Dov, Ekhilevitch, Nina, Mandel, Hanna, Eulenburg, Volker, Baris, Hagit N.
Published in American journal of human genetics (03.11.2016)
Published in American journal of human genetics (03.11.2016)
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Journal Article
Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy
Kurolap, Alina, Eshach-Adiv, Orly, Hershkovitz, Tova, Paperna, Tamar, Mory, Adi, Oz-Levi, Danit, Zohar, Yaniv, Mandel, Hanna, Chezar, Judith, Azoulay, David, Peleg, Sarit, Half, Elizabeth E, Yahalom, Vered, Finkel, Lilach, Weissbrod, Omer, Geiger, Dan, Tabib, Adi, Shaoul, Ron, Magen, Daniella, Bonstein, Lilach, Mevorach, Dror, Baris, Hagit N
Published in The New England journal of medicine (06.07.2017)
Published in The New England journal of medicine (06.07.2017)
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Journal Article
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction
Tiosano, Dov, Baris, Hagit N, Chen, Anlu, Hitzert, Marrit M, Schueler, Markus, Gulluni, Federico, Wiesener, Antje, Bergua, Antonio, Mory, Adi, Copeland, Brett, Gleeson, Joseph G, Rump, Patrick, van Meer, Hester, Sival, Deborah A, Haucke, Volker, Kriwinsky, Josh, Knaup, Karl X, Reis, André, Hauer, Nadine N, Hirsch, Emilio, Roepman, Ronald, Pfundt, Rolph, Thiel, Christian T, Wiesener, Michael S, Aslanyan, Mariam G, Buchner, David A
Published in PLoS genetics (29.04.2019)
Published in PLoS genetics (29.04.2019)
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Journal Article
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency
Tesch, Victoria K, IJspeert, Hanna, Raicht, Andrea, Rueda, Daniel, Dominguez-Pinilla, Nerea, Allende, Luis M, Colas, Chrystelle, Rosenbaum, Thorsten, Ilencikova, Denisa, Baris, Hagit N, Nathrath, Michaela H M, Suerink, Manon, Januszkiewicz-Lewandowska, Danuta, Ragab, Iman, Azizi, Amedeo A, Wenzel, Soeren S, Zschocke, Johannes, Schwinger, Wolfgang, Kloor, Matthias, Blattmann, Claudia, Brugieres, Laurence, van der Burg, Mirjam, Wimmer, Katharina, Seidel, Markus G
Published in Frontiers in immunology (02.07.2018)
Published in Frontiers in immunology (02.07.2018)
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Journal Article
Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt
Weiss, Karin, Kurolap, Alina, Paperna, Tamar, Mory, Adi, Steinberg, Maya, Hershkovitz, Tova, Ekhilevitch, Nina, Baris, Hagit N
Published in Rambam Maimonides medical journal (30.07.2018)
Published in Rambam Maimonides medical journal (30.07.2018)
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Journal Article
Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher disease
Elstein, Deborah, Hughes, Derralynn, Goker-Alpan, Ozlem, Stivel, Miriam, Baris, Hagit N., Cohen, Ian J., Granovsky-Grisaru, Sorina, Samueloff, Arnon, Mehta, Atul, Zimran, Ari
Published in The journal of obstetrics and gynaecology research (01.04.2014)
Published in The journal of obstetrics and gynaecology research (01.04.2014)
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Journal Article
VarElect: the phenotype-based variation prioritizer of the GeneCards Suite
Stelzer, Gil, Plaschkes, Inbar, Oz-Levi, Danit, Alkelai, Anna, Olender, Tsviya, Zimmerman, Shahar, Twik, Michal, Belinky, Frida, Fishilevich, Simon, Nudel, Ron, Guan-Golan, Yaron, Warshawsky, David, Dahary, Dvir, Kohn, Asher, Mazor, Yaron, Kaplan, Sergey, Iny Stein, Tsippi, Baris, Hagit N, Rappaport, Noa, Safran, Marilyn, Lancet, Doron
Published in BMC genomics (23.06.2016)
Published in BMC genomics (23.06.2016)
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Journal Article
Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance
Durno, Carol, Ercan, Ayse Bahar, Bianchi, Vanessa, Edwards, Melissa, Aronson, Melyssa, Galati, Melissa, Atenafu, Eshetu G, Abebe-Campino, Gadi, Al-Battashi, Abeer, Alharbi, Musa, Azad, Vahid Fallah, Baris, Hagit N, Basel, Donald, Bedgood, Raymond, Bendel, Anne, Ben-Shachar, Shay, Blumenthal, Deborah T, Blundell, Maude, Bornhorst, Miriam, Bronsema, Annika, Cairney, Elizabeth, Rhode, Sara, Caspi, Shani, Chamdin, Aghiad, Chiaravalli, Stefano, Constantini, Shlomi, Crooks, Bruce, Das, Anirban, Dvir, Rina, Farah, Roula, Foulkes, William D, Frenkel, Zehavit, Gallinger, Bailey, Gardner, Sharon, Gass, David, Ghalibafian, Mithra, Gilpin, Catherine, Goldberg, Yael, Goudie, Catherine, Hamid, Syed Ahmer, Hampel, Heather, Hansford, Jordan R, Harlos, Craig, Hijiya, Nobuko, Hsu, Saunders, Kamihara, Junne, Kebudi, Rejin, Knipstein, Jeffrey, Koschmann, Carl, Kratz, Christian, Larouche, Valerie, Lassaletta, Alvaro, Lindhorst, Scott, Ling, Simon C, Link, Michael P, Loret De Mola, Rebecca, Luiten, Rebecca, Lurye, Michal, Maciaszek, Jamie L, MagimairajanIssai, Vanan, Maher, Ossama M, Massimino, Maura, McGee, Rose B, Mushtaq, Naureen, Mason, Gary, Newmark, Monica, Nicholas, Garth, Nichols, Kim E, Nicolaides, Theodore, Opocher, Enrico, Osborn, Michael, Oshrine, Benjamin, Pearlman, Rachel, Pettee, Daniel, Rapp, Jan, Rashid, Mohsin, Reddy, Alyssa, Reichman, Lara, Remke, Marc, Robbins, Gabriel, Roy, Sumita, Sabel, Magnus, Samuel, David, Scheers, Isabelle, Schneider, Kami Wolfe, Sen, Santanu, Stearns, Duncan, Sumerauer, David, Swallow, Carol, Taylor, Leslie, Thomas, Gregory, Toledano, Helen, Tomboc, Patrick, Van Damme, An, Winer, Ira, Yalon, Michal, Yen, Lee Yi, Zapotocky, Michal, Zelcer, Shayna, Ziegler, David S
Published in Journal of clinical oncology (01.09.2021)
Published in Journal of clinical oncology (01.09.2021)
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Journal Article
PI(3,4)P2-mediated cytokinetic abscission prevents early senescence and cataract formation
Gulluni, Federico, Prever, Lorenzo, Li, Huayi, Krafcikova, Petra, Corrado, Ilaria, Lo, Wen-Ting, Margaria, Jean Piero, Chen, Anlu, De Santis, Maria Chiara, Cnudde, Sophie J, Fogerty, Joseph, Yuan, Alex, Massarotti, Alberto, Sarijalo, Nasrin Torabi, Vadas, Oscar, Williams, Roger L, Thelen, Marcus, Powell, David R, Schueler, Markus, Wiesener, Michael S, Balla, Tamas, Baris, Hagit N, Tiosano, Dov, McDermott, Jr, Brian M, Perkins, Brian D, Ghigo, Alessandra, Martini, Miriam, Haucke, Volker, Boura, Evzen, Merlo, Giorgio Roberto, Buchner, David A, Hirsch, Emilio
Published in Science (American Association for the Advancement of Science) (10.12.2021)
Published in Science (American Association for the Advancement of Science) (10.12.2021)
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Journal Article
Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history
Baris, Hagit N, Cohen, Ian J, Mistry, Pramod K
Published in Pediatric endocrinology reviews : PER (01.09.2014)
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Published in Pediatric endocrinology reviews : PER (01.09.2014)
Journal Article
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency
Chen, Anlu, Tiosano, Dov, Guran, Tulay, Baris, Hagit N, Bayram, Yavuz, Mory, Adi, Shapiro-Kulnane, Laura, Hodges, Craig A, Akdemir, Zeynep C, Turan, Serap, Jhangiani, Shalini N, van den Akker, Focco, Hoppel, Charles L, Salz, Helen K, Lupski, James R, Buchner, David A
Published in Human molecular genetics (01.06.2018)
Published in Human molecular genetics (01.06.2018)
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Journal Article
Microarray analysis in pregnancies with isolated echogenic bowel
Singer, Amihood, Maya, Idit, Koifman, Arie, Nasser Samra, Nadra, Baris, Hagit N., Falik-Zaccai, Tzipora, Ben Shachar, Shay, Sagi-Dain, Lena
Published in Early human development (01.04.2018)
Published in Early human development (01.04.2018)
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Journal Article
Trio approach reveals higher risk of PD in carriers of severe vs. mild GBA mutations
Arkadir, David, Dinur, Tama, Mullin, Stephen, Mehta, Atul, Baris, Hagit N, Alcalay, Roy N, Zimran, Ari
Published in Blood cells, molecules, & diseases (01.02.2018)
Published in Blood cells, molecules, & diseases (01.02.2018)
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Journal Article
Microarray analysis in pregnancies with isolated unilateral kidney agenesis
Sagi-Dain, Lena, Maya, Idit, Peleg, Amir, Reches, Adi, Banne, Ehud, Baris, Hagit N, Tenne, Tamar, Singer, Amihood, Ben-Shachar, Shay
Published in Pediatric research (01.04.2018)
Published in Pediatric research (01.04.2018)
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Journal Article
Prenatal microarray analysis in right aortic arch—a retrospective cohort study and review of the literature
Maya, Idit, Singer, Amihood, Baris, Hagit N, Goldberg, Yael, Shalata, Adel, Khayat, Morad, Ben-Shachar, Shay, Sagi-Dain, Lena
Published in Journal of perinatology (01.05.2018)
Published in Journal of perinatology (01.05.2018)
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Journal Article
Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype
Kurolap, Alina, Eshach-Adiv, Orly, Gonzaga-Jauregui, Claudia, Dolnikov, Katya, Mory, Adi, Paperna, Tamar, Hershkovitz, Tova, Overton, John D, Kaplan, Marielle, Glaser, Fabian, Zohar, Yaniv, Shuldiner, Alan R, Berger, Gidon, Baris, Hagit N
Published in Journal of medical genetics (01.11.2018)
Published in Journal of medical genetics (01.11.2018)
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Journal Article
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management
Tan, Wen-Hann, Baris, Hagit N, Burrows, Patricia E, Robson, Caroline D, Alomari, Ahmad I, Mulliken, John B, Fishman, Steven J, Irons, Mira B
Published in Journal of medical genetics (01.09.2007)
Published in Journal of medical genetics (01.09.2007)
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Journal Article
Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium
Aronson, Melyssa, Gallinger, Steven, Cohen, Zane, Cohen, Shlomi, Dvir, Rina, Elhasid, Ronit, Baris, Hagit N, Kariv, Revital, Druker, Harriet, Chan, Helen, Ling, Simon C, Kortan, Paul, Holter, Spring, Semotiuk, Kara, Malkin, David, Farah, Roula, Sayad, Alain, Heald, Brandie, Kalady, Matthew F, Penney, Lynette S, Rideout, Andrea L, Rashid, Mohsin, Hasadsri, Linda, Pichurin, Pavel, Riegert-Johnson, Douglas, Campbell, Brittany, Bakry, Doua, Al-Rimawi, Hala, Alharbi, Qasim Kholaif, Alharbi, Musa, Shamvil, Ashraf, Tabori, Uri, Durno, Carol
Published in The American journal of gastroenterology (01.02.2016)
Published in The American journal of gastroenterology (01.02.2016)
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Journal Article
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)
Haer-Wigman, Lonneke, Newman, Hadas, Leibu, Rina, Bax, Nathalie M, Baris, Hagit N, Rizel, Leah, Banin, Eyal, Massarweh, Amir, Roosing, Susanne, Lefeber, Dirk J, Zonneveld-Vrieling, Marijke N, Isakov, Ofer, Shomron, Noam, Sharon, Dror, Den Hollander, Anneke I, Hoyng, Carel B, Cremers, Frans P M, Ben-Yosef, Tamar
Published in Human molecular genetics (01.07.2015)
Published in Human molecular genetics (01.07.2015)
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Journal Article
Correspondence on "Neurocutaneous Syndromes and Brain Tumors"
Toledano, Helen, Barnes-Kedar, Inbal, Baris, Hagit N
Published in Journal of child neurology (01.06.2016)
Published in Journal of child neurology (01.06.2016)
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Journal Article