Gaucher Disease: The Metabolic Defect, Pathophysiology, Phenotypes And Natural History

Por Baris, Hagit N., Cohen, Ian J., Mistry, Pramod K.
Publicado no Pediatr Endocrinol Rev (2014)

Gaucher disease type 2 — Homozygosity for the mutation F331S in two unrelated consanguineous Muslim Arab patients with Gaucher disease from the Gaza and Jenin regions

Por Baris, Hagit N., Raas-Rothschild, Annick, Garty, Ben-Zion, Tor, Ruth, Klontz, Sarah, Tayebi, Nahid, Sidransky, Ellen, Cohen, Ian J.
Publicado em 2011

The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management

Por Tan, Wen‐Hann, Baris, Hagit N, Burrows, Patricia E, Robson, Caroline D, Alomari, Ahmad I, Mulliken, John B, Fishman, Steven J, Irons, Mira B
Publicado em 2007

Upper and Lower Gastrointestinal Findings in PTEN Mutation–Positive Cowden Syndrome Patients Participating in an Active Surveillance Program

Por Levi, Zohar, Baris, Hagit N, Kedar, Inbal, Niv, Yaron, Geller, Alex, Gal, Eyal, Gingold, Rachel, Morgenstern, Sara, Baruch, Yacov, Leach, Brandie Heald, Bronner, Mary P, Eng, Charis
Publicado em 2011

Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome

Por Baris, Hagit N, Chan, Wai-Man, Andrews, Caroline, Behar, Doron M, Donovan, Diana J, Morton, Cynthia C, Ranells, Judith, Pal, Tuya, Ligon, Azra H, Engle, Elizabeth C
Publicado em 2013

Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine

Por 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.
Publicado no Am J Hum Genet (2016)

VarElect: the phenotype-based variation prioritizer of the GeneCards Suite

Por 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
Publicado no BMC Genomics (2016)

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)

Por 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
Publicado no Hum Mol Genet (2015)

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

Por Tischfield, Max A., Baris, Hagit N., Wu, Chen, Rudolph, Guenther, Van Maldergem, Lionel, He, Wei, Chan, Wai-Man, Andrews, Caroline, Demer, Joseph L., Robertson, Richard L., Mackey, David A., Ruddle, Jonathan B., Bird, Thomas D., Gottlob, Irene, Pieh, Christina, Traboulsi, Elias I., Pomeroy, Scott L., Hunter, David G., Soul, Janet S., Newlin, Anna, Sabol, Louise J., Doherty, Edward J., de Uzcátegui, Clara E., de Uzcátegui, Nicolas, Collins, Mary Louise Z., Sener, Emin C., Wabbels, Bettina, Hellebrand, Heide, Meitinger, Thomas, de Berardinis, Teresa, Magli, Adriano, Schiavi, Costantino, Pastore-Trossello, Marco, Koc, Feray, Wong, Agnes M., Levin, Alex V., Geraghty, Michael T., Descartes, Maria, Flaherty, Maree, Jamieson, Robyn V., Møller, H. U., Meuthen, Ingo, Callen, David F., Kerwin, Janet, Lindsay, Susan, Meindl, Alfons, Gupta, Mohan L., Pellman, David, Engle, Elizabeth C.
Publicado em 2010