In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease

por Fellner, Avi, Goldberg, Yael, Lev, Dorit, Basel-Salmon, Lina, Shor, Oded, Benninger, Felix
Publicado 2022

Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome

por Levy, Michal, Bazak, Lily, Lev-El, Noa, Greenberg, Rotem, Kropach, Nesia, Basel-Salmon, Lina, Maya, Idit
Publicado 2023

Prenatal gender-customized head circumference nomograms result in reclassification of microcephaly and macrocephaly

por Sukenik-Halevy, Rivka, Golbary Kinory, Ella, Laron Kenet, Tamar, Brabbing-Goldstein, Dana, Gilboa, Yinon, Basel-Salmon, Lina, Perlman, Sharon
Publicado 2023

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 2019

Should We Report 15q11.2 BP1-BP2 Deletions and Duplications in the Prenatal Setting?

por Maya, Idit, Perlman, Sharon, Shohat, Mordechai, Kahana, Sarit, Yacobson, Shiri, Tenne, Tamar, Agmon-Fishman, Ifaat, Tomashov Matar, Reut, Basel-Salmon, Lina, Sukenik-Halevy, Rivka
Publicado 2020

Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels

por Einhorn, Yaron, Einhorn, Moshe, Kurolap, Alina, Steinberg, Dror, Mory, Adi, Bazak, Lily, Paperna, Tamar, Grinshpun-Cohen, Julia, Basel-Salmon, Lina, Weiss, Karin, Singer, Amihood, Yaron, Yuval, Baris Feldman, Hagit
Publicado 2023

The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study

por Sukenik‐Halevy, Rivka, Perlman, Sharon, Ruhrman‐Shahar, Noa, Engel, Offra, Orenstein, Naama, Gonzaga‐Jauregui, Claudia, Shuldiner, Alan R., Magal, Nurit, Hagari, Ofir, Azulay, Noy, Lidzbarsky, Gabriel Arie, Bazak, Lily, Basel‐Salmon, Lina
Publicado 2022

Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin

por Wilf-Yarkoni, Adi, Shor, Oded, Fellner, Avi, Hellmann, Mark Andrew, Pras, Elon, Yonath, Hagit, Shkedi-Rafid, Shiri, Basel-Salmon, Lina, Bazak, Lili, Eliahou, Ruth, Greenbaum, Lior, Stiebel-Kalish, Hadas, Benninger, Felix, Goldberg, Yael
Publicado 2021

Postpartum women's attitudes to disclosure of adult‐onset conditions in pregnancy

por Libman, Vitalia, Macarov, Michal, Friedlander, Yechiel, Goldman‐Mellor, Sidra, Israel, Salomon, Hochner‐Celnikier, Drorith, Sompolinsky, Yishai, Dior, Uri Pinchas, Osovsky, Michael, Basel‐Salmon, Lina, Wiznitzer, Arnon, Neumark, Yehuda, Meiner, Vardiella, Frumkin, Ayala, Shkedi‐Rafid, Shiri, Hochner, Hagit
Publicado 2022

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 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 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 2019

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

por Shao, Diane D., Straussberg, Rachel, Ahmed, Hind, Khan, Amjad, Tian, Songhai, Hill, R. Sean, Smith, Richard S., Majmundar, Amar J., Ameziane, Najim, Neil, Jennifer E., Yang, Edward, Al Tenaiji, Amal, Jamuar, Saumya S., Schlaeger, Thorsten M., Al-Saffar, Muna, Hovel, Iris, Al-Shamsi, Aisha, Basel-Salmon, Lina, Amir, Achiya Z., Rento, Lariza M., Lim, Jiin Ying, Ganesan, Indra, Shril, Shirlee, Evrony, Gilad, Barkovich, A. James, Bauer, Peter, Hildebrandt, Friedhelm, Dong, Min, Borck, Guntram, Beetz, Christian, Al-Gazali, Lihadh, Eyaid, Wafaa, Walsh, Christopher A.
Publicado 2021

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

por Shen, Jun, Oza, Andrea M., del Castillo, Ignacio, Duzkale, Hatice, Matsunaga, Tatsuo, Pandya, Arti, Kang, Hyunseok P., Mar-Heyming, Rebecca, Guha, Saurav, Moyer, Krista, Lo, Christine, Kenna, Margaret, Alexander, John J., Zhang, Yan, Hirsch, Yoel, Luo, Minjie, Cao, Ye, Choy, Kwong Wai, Cheng, Yen-Fu, Avraham, Karen B., Hu, Xinhua, Garrido, Gema, Moreno-Pelayo, Miguel A., Greinwald, John, Zhang, Kejian, Zeng, Yukun, Brownstein, Zippora, Basel-Salmon, Lina, Davidov, Bella, Frydman, Moshe, Weiden, Tzvi, Nagan, Narasimhan, Willis, Alecia, Hemphill, Sarah E., Grant, Andrew R., Siegert, Rebecca K., DiStefano, Marina T., Amr, Sami S., Rehm, Heidi L., Tayoun, Ahmad N. Abou
Publicado 2019