Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation

Por Shohet, Adi, Cohen, Lior, Haguel, Danielle, Mozer, Yael, Shomron, Noam, Tzur, Shay, Bazak, Lily, Basel Salmon, Lina, Krause, Irit
Publicado no Eur J Hum Genet (2018)

Bayesian-based noninvasive prenatal diagnosis of single-gene disorders

Por Rabinowitz, Tom, Polsky, Avital, Golan, David, Danilevsky, Artem, Shapira, Guy, Raff, Chen, Basel-Salmon, Lina, Matar, Reut Tomashov, Shomron, Noam
Publicado no Genome Res (2019)

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities

Por Bend, Renee, Cohen, Lior, Carter, Melissa T., Lyons, Michael J., Niyazov, Dmitriy, Mikati, Mohamad A., Rojas, Samantha K., Person, Richard E., Si, Yue, Wentzensen, Ingrid M., Torti, Erin, Lee, Jennifer A., Boycott, Kym M., Basel-Salmon, Lina, Ferreira, Carlos R., Gonzaga-Jauregui, Claudia
Publicado no Eur J Hum Genet (2019)

Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A

Por Lieberman, Sari, Beeri, Rachel, Walsh, Tom, Schechter, Menachem, Keret, Dan, Half, Elizabet, Gulsuner, Suleyman, Tomer, Ariela, Jacob, Harold, Cohen, Shlomi, Basel-Salmon, Lina, Mansur, Mahmud, Berger, Rachel, Katz, Lior H., Golomb, Eliahu, Peretz, Tamar, Levy, Zohar, Kedar, Inbal, King, Mary-Claire, Levy-Lahad, Ephrat, Goldberg, Yael
Publicado no Clin Transl Gastroenterol (2019)

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures

Por Horn, Susanne, Au, Margaret, Basel-Salmon, Lina, Bayrak-Toydemir, Pinar, Chapin, Alexander, Cohen, Lior, Elting, Mariet W, Graham, John M, Gonzaga-Jauregui, Claudia, Konen, Osnat, Holzer, Max, Lemke, Johannes, Miller, Christine E, Rey, Linda K, Wolf, Nicole I, Weiss, Marjan M, Waisfisz, Quinten, Mirzaa, Ghayda M, Wieczorek, Dagmar, Sticht, Heinrich, Abou Jamra, Rami
Publicado no Brain (2019)

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Por Magini, Pamela, Smits, Daphne J., Vandervore, Laura, Schot, Rachel, Columbaro, Marta, Kasteleijn, Esmee, van der Ent, Mees, Palombo, Flavia, Lequin, Maarten H., Dremmen, Marjolein, de Wit, Marie Claire Y., Severino, Mariasavina, Divizia, Maria Teresa, Striano, Pasquale, Ordonez-Herrera, Natalia, Alhashem, Amal, Al Fares, Ahmed, Al Ghamdi, Malak, Rolfs, Arndt, Bauer, Peter, Demmers, Jeroen, Verheijen, Frans W., Wilke, Martina, van Slegtenhorst, Marjon, van der Spek, Peter J., Seri, Marco, Jansen, Anna C., Stottmann, Rolf W., Hufnagel, Robert B., Hopkin, Robert J., Aljeaid, Deema, Wiszniewski, Wojciech, Gawlinski, Pawel, Laure-Kamionowska, Milena, Alkuraya, Fowzan S., Akleh, Hanah, Stanley, Valentina, Musaev, Damir, Gleeson, Joseph G., Zaki, Maha S., Brunetti-Pierri, Nicola, Cappuccio, Gerarda, Davidov, Bella, Basel-Salmon, Lina, Bazak, Lily, Shahar, Noa Ruhrman, Bertoli-Avella, Aida, Mirzaa, Ghayda M., Dobyns, William B., Pippucci, Tommaso, Fornerod, Maarten, Mancini, Grazia M.S.
Publicado no Am J Hum Genet (2019)