Lina Basel

2022

Prenatal and postnatal chromosomal microarray analysis in 885 cases of various congenital heart defects

Salzer-Sheelo, L., Polak, U., Barg, A., Kahana, S., Yacobson, S., Agmon-Fishman, I., Klein, C., Matar, R., Rurman-Shahar, N., Sagi-Dain, L., Basel-Salmon, L., Maya, I. & Sukenik-Halevy, R., Oct 2022, In: Archives of Gynecology and Obstetrics. 306, 4, p. 1007-1013 7 p.

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Residual Risk for Clinically Significant Copy Number Variants in Low-Risk Pregnancies, Following Exclusion of Noninvasive Prenatal Screening-Detectable Findings

Maya, I., Sheelo, L. S., Brabbing-Goldstein, D., Matar, R., Kahana, S., Agmon-Fishman, I., Klein, C., Gurevitch, M., Basel-Salmon, L. & Sagi-Dain, L., 1 Oct 2022, In: Obstetrical and Gynecological Survey. 77, 10, p. 574-576 3 p.

Research output: Contribution to journal › Comment/debate

Residual risk for clinically significant copy number variants in low-risk pregnancies, following exclusion of noninvasive prenatal screening–detectable findings

Maya, I., Salzer Sheelo, L., Brabbing-Goldstein, D., Matar, R., Kahana, S., Agmon-Fishman, I., Klein, C., Gurevitch, M., Basel-Salmon, L. & Sagi-Dain, L., Apr 2022, In: American Journal of Obstetrics and Gynecology. 226, 4, p. 562.e1-562.e8

Research output: Contribution to journal › Article › peer-review

15 Scopus citations

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

Regeneron Genetics Center, May 2022, In: Prenatal Diagnosis. 42, 6, p. 717-724 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

8 Scopus citations

2021

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

Shao, D. D., Straussberg, R., Ahmed, H., Khan, A., Tian, S., Hill, R. S., Smith, R. S., Majmundar, A. J., Ameziane, N., Neil, J. E., Yang, E., Al Tenaiji, A., Jamuar, S. S., Schlaeger, T. M., Al-Saffar, M., Hovel, I., Al-Shamsi, A., Basel-Salmon, L., Amir, A. Z. & Rento, L. M. & 13 others, Lim, J. Y., Ganesan, I., Shril, S., Evrony, G., Barkovich, A. J., Bauer, P., Hildebrandt, F., Dong, M., Borck, G., Beetz, C., Al-Gazali, L., Eyaid, W. & Walsh, C. A., Jun 2021, In: Genetics in Medicine. 23, 6, p. 1158-1162 5 p.

Research output: Contribution to journal › Article › peer-review

Open Access

16 Scopus citations

A study of normal copy number variations in Israeli population

Maya, I., Smirin-Yosef, P., Kahana, S., Morag, S., Yacobson, S., Agmon-Fishman, I., Matar, R., Bitton, E., Shohat, M., Basel-Salmon, L. & Salmon-Divon, M., Mar 2021, In: Human Genetics. 140, 3, p. 553-563 11 p.

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Biallelic variants in ETV2 in a family with congenital heart defects, vertebral abnormalities and preaxial polydactyly

Basel-Salmon, L., Ruhrman-Shahar, N., Barel, O., Hagari, O., Marek-Yagel, D., Azulai, N., Bazak, L., Svirsky, R., Reznik-wolf, H., Lidzbarsky, G. A. & Shohat, M., Feb 2021, In: European Journal of Medical Genetics. 64, 2, 104124.

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

Epilepsy and electroencephalogram evolution in YWHAG gene mutation: A new phenotype and review of the literature

Stern, T., Orenstein, N., Fellner, A., Lev-El Halabi, N., Shuldiner, A. R., Gonzaga-Jauregui, C., Lidzbarsky, G., Basel-Salmon, L. & Goldberg-Stern, H., Mar 2021, In: American Journal of Medical Genetics, Part A. 185, 3, p. 901-908 8 p.

Research output: Contribution to journal › Article › peer-review

7 Scopus citations

Is it time to report carrier state for recessive disorders in every microarray analysis?—A pilot model based on hearing loss genes deletions

Maya, I., Basel-Salmon, L. & Sagi-Dain, L., Aug 2021, In: European Journal of Human Genetics. 29, 8, p. 1292-1300 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

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

Wilf-Yarkoni, A., Shor, O., Fellner, A., Hellmann, M. A., Pras, E., Yonath, H., Shkedi-Rafid, S., Basel-Salmon, L., Bazak, L., Eliahou, R., Greenbaum, L., Stiebel-Kalish, H., Benninger, F. & Goldberg, Y., 19 Apr 2021, In: Neurology: Genetics. 7, 2, p. e578

Research output: Contribution to journal › Article › peer-review

Open Access

12 Scopus citations

Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant

Goldberg, Y., Laitman, Y., Ben David, M., Bazak, L., Lidzbarsky, G., Salmon, L. B., Shkedi-Rafid, S., Barshack, I., Avivi, C., Darawshe, M., Shomron, N., Bruchim, R., Vinkler, C., Yannoukakos, D., Fostira, F., Bernstein-Molho, R. & Friedman, E., May 2021, In: Human Mutation. 42, 5, p. 592-599 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

4 Scopus citations

The diagnostic efficacy of exome data analysis using fixed neurodevelopmental gene lists: Implications for prenatal setting

Sukenik-Halevy, R., Ruhrman-Shahar, N., Orenstein, N., Gonzaga-Jauregui, C., Shuldiner, A. R., Magal, N., Hagari, O., Azulay, N., Lidzbarsky, G. A., Bazak, L. & Basel-Salmon, L., May 2021, In: Prenatal Diagnosis. 41, 6, p. 701-707 7 p.

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

The phenotype of 15 cases with rare 8q24.13-q24.3 deletions–A new syndrome or still an enigma?

Maya, I., Kahana, S., Agmon-Fishman, I., Klein, C., Matar, R., Berger, R., Josefsberg, S. B. Y., Shohat, M., Marom, D., Basel-Salmon, L. & Sagi-Dain, L., May 2021, In: American Journal of Medical Genetics, Part A. 185, 5, p. 1461-1467 7 p.

Research output: Contribution to journal › Article › peer-review

The role of phenotype-based search approaches using public online databases in diagnostics of Mendelian disorders

Fellner, A., Ruhrman-Shahar, N., Orenstein, N., Lidzbarsky, G., Shuldiner, A. R., Gonzaga-Jauregui, C., Brown-Shalev, H., Hagari-Bechar, O., Bazak, L. & Basel-Salmon, L., Jun 2021, In: Genetics in Medicine. 23, 6, p. 1095-1100 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

4 Scopus citations

Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia

Fellner, A., Lossos, A., Kogan, E., Argov, Z., Gonzaga-Jauregui, C., Shuldiner, A. R., Darawshe, M., Bazak, L., Lidzbarsky, G., Shomron, N., Basel-Salmon, L. & Goldberg, Y., May 2021, In: Clinical Genetics. 99, 5, p. 713-718 6 p.

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

When phenotype does not match genotype: importance of “real-time” refining of phenotypic information for exome data interpretation

Basel-Salmon, L., Ruhrman-Shahar, N., Orenstein, N., Goldberg, Y., Gonzaga-Jauregui, C., Shuldiner, A. R., Sukenik-Halevy, R., Maya, I., Magal, N., Hagari, O., Azulay, N., Lidzbarsky, G. A. & Bazak, L., Jan 2021, In: Genetics in Medicine. 23, 1, p. 215-221 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

12 Scopus citations

2020

Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1–8 does not cause Beals syndrome

Maya, I., Kahana, S., Agmon-Fishman, I., Klein, C., Matar, R., Berger, R., Shohat, M., Basel-Salmon, L., Sharony, R. & Sagi-Dain, L., Oct 2020, In: European Journal of Medical Genetics. 63, 10, 104008.

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures

Tan, T. Y., Sedmík, J., Fitzgerald, M. P., Halevy, R. S., Keegan, L. P., Helbig, I., Basel-Salmon, L., Cohen, L., Straussberg, R., Chung, W. K., Helal, M., Maroofian, R., Houlden, H., Juusola, J., Sadedin, S., Pais, L., Howell, K. B., White, S. M., Christodoulou, J. & O'Connell, M. A., 2 Apr 2020, In: American Journal of Human Genetics. 106, 4, p. 467-483 17 p.

Research output: Contribution to journal › Article › peer-review

Open Access

31 Scopus citations

Chromosomal Microarray vs. NIPS: Analysis of 5541 Low-Risk Pregnancies

Sagi-Dain, L., Vig, L. C., Kahana, S., Yacobson, S., Tenne, T., Agmon-Fishman, I., Klein, C., Matar, R., Basel-Salmon, L. & Maya, I., 1 Apr 2020, In: Obstetrical and Gynecological Survey. 75, 4, p. 222-224 3 p.

Research output: Contribution to journal › Comment/debate

1 Scopus citations

High-frequency low-penetrance copy-number variant classification: should we revise the existing guidelines?

Maya, I., Basel-Salmon, L., Singer, A. & Sagi-Dain, L., 1 Jul 2020, In: Genetics in Medicine. 22, 7, p. 1276-1277 2 p.

Research output: Contribution to journal › Letter › peer-review

Open Access

10 Scopus citations

Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype

Paperna, T., Sharon-Shwartzman, N., Kurolap, A., Goldberg, Y., Moustafa, N., Carasso, Y., Feinstien, M., Mory, A., Reznick-Levi, G., Gonzaga-Jauregui, C., Shuldiner, A. R., Basel-Salmon, L., Ofran, Y., Half, E. E. & Baris Feldman, H., 1 Jul 2020, In: Journal of Medical Genetics. 57, 7, p. 500-504 5 p.

Research output: Contribution to journal › Article › peer-review

10 Scopus citations

Impact of a national population-based carrier-screening program on spinal muscular atrophy births

Aharoni, S., Nevo, Y., Orenstein, N., Basel-Salmon, L., Ben-Shachar, S., Mussaffi, H., Sagi-Dain, L., Cohen, R. & Singer, A., Dec 2020, In: Neuromuscular Disorders. 30, 12, p. 970-974 5 p.

Research output: Contribution to journal › Article › peer-review

18 Scopus citations

Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability

Li, L., Ghorbani, M., Weisz-Hubshman, M., Rousseau, J., Thiffault, I., Schnur, R. E., Breen, C., Oegema, R., Weiss, M. M. M., Waisfisz, Q., Welner, S., Kingston, H., Hills, J. A., Boon, E. M. J., Basel-Salmon, L., Konen, O., Goldberg-Stern, H., Bazak, L., Tzur, S. & Jin, J. & 14 others, Bi, X., Bruccoleri, M., McWalter, K., Cho, M. T., Scarano, M., Schaefer, G. B., Brooks, S. S., Hughes, S. S., Van Gassen, K. L. I., Van Hagen, J. M., Pandita, T. K., Agrawal, P. B., Campeau, P. M. & Yang, X. J., 2 Mar 2020, In: Journal of Clinical Investigation. 130, 3, p. 1431-1445 15 p.

Research output: Contribution to journal › Article › peer-review

Open Access

38 Scopus citations

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

Mak, C. C. Y., Doherty, D., Lin, A. E., Vegas, N., Cho, M. T., Viot, G., Dimartino, C., Weisfeld-Adams, J. D., Lessel, D., Joss, S., Li, C., Gonzaga-Jauregui, C., Zarate, Y. A., Ehmke, N., Horn, D., Troyer, C., Kant, S. G., Lee, Y., Ishak, G. E. & Leung, G. & 62 others, Barone Pritchard, A., Yang, S., Bend, E. G., Filippini, F., Roadhouse, C., Lebrun, N., Mehaffey, M. G., Martin, P. M., Apple, B., Millan, F., Puk, O., Hoffer, M. J. V., Henderson, L. B., McGowan, R., Wentzensen, I. M., Pei, S., Zahir, F. R., Yu, M., Gibson, W. T., Seman, A., Steeves, M., Murrell, J. R., Luettgen, S., Francisco, E., Strom, T. M., Amlie-Wolf, L., Kaindl, A. M., Wilson, W. G., Halbach, S., Basel-Salmon, L., Lev-El, N., Denecke, J., Vissers, L. E. L. M., Radtke, K., Chelly, J., Zackai, E., Friedman, J. M., Bamshad, M. J., Nickerson, D. A., Reid, R. R., Devriendt, K., Chae, J. H., Stolerman, E., McDougall, C., Powis, Z., Bienvenu, T., Tan, T. Y., Orenstein, N., Dobyns, W. B., Shieh, J. T., Choi, M., Waggoner, D., Gripp, K. W., Parker, M. J., Stoler, J., Lyonnet, S., Cormier-Daire, V., Viskochil, D., Hoffman, T. L., Amiel, J., Chung, B. H. Y. & Gordon, C. T., 1 Jan 2020, In: Brain. 143, 1, p. 55-68 14 p.

Research output: Contribution to journal › Article › peer-review

Open Access

35 Scopus citations

Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency

Toledano, H., Orenstein, N., Sofrin, E., Ruhrman-Shahar, N., Amarilyo, G., Basel-Salmon, L., Shuldiner, A. R., Smirin-Yosef, P., Aronson, M., Al-Tarrah, H., Bazak, L., Gonzaga-Jauregui, C., Tabori, U., Wimmer, K. & Goldberg, Y., 1 Jul 2020, In: Journal of Medical Genetics. 57, 7, p. 505-508 4 p.

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

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

Regeneron Genetics Center, 1 Jan 2020, In: European Journal of Human Genetics. 28, 1, p. 76-87 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

20 Scopus citations

Should we report 15q11.2 BP1-BP2 deletions and duplications in the prenatal setting?

Maya, I., Perlman, S., Shohat, M., Kahana, S., Yacobson, S., Tenne, T., Agmon-Fishman, I., Matar, R. T., Basel-Salmon, L. & Sukenik-Halevy, R., Aug 2020, In: Journal of Clinical Medicine. 9, 8, p. 1-12 12 p., 2602.

Research output: Contribution to journal › Article › peer-review

Open Access

13 Scopus citations

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

Brownstein, Z., Gulsuner, S., Walsh, T., Martins, F. T. A., Taiber, S., Isakov, O., Lee, M. K., Bordeynik-Cohen, M., Birkan, M., Chang, W., Casadei, S., Danial-Farran, N., Abu-Rayyan, A., Carlson, R., Kamal, L., Arnthórsson, A., Sokolov, M., Gilony, D., Lipschitz, N. & Frydman, M. & 30 others, Davidov, B., Macarov, M., Sagi, M., Vinkler, C., Poran, H., Sharony, R., Samra, N., Zvi, N., Baris-Feldman, H., Singer, A., Handzel, O., Hertzano, R., Ali-Naffaa, D., Ruhrman-Shahar, N., Madgar, O., Sofrin-Drucker, E., Peleg, A., Khayat, M., Shohat, M., Basel-Salmon, L., Pras, E., Lev, D., Wolf, M., Steingrimsson, E., Shomron, N., Kelley, M. W., Kanaan, M. N., Allon-Shalev, S., King, M. C. & Avraham, K. B., 1 Oct 2020, In: Clinical Genetics. 98, 4, p. 353-364 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

17 Scopus citations

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

Michaelson-Cohen, R., Salzer-Sheelo, L., Sukenik-Halevy, R., Koifman, A., Fellner, A., Reches, A., Marom, D., Behar, D. M., Sofrin-Drucker, E., Zaks-Hoffer, G., Weiss-Hubshmann, M., Oresntein, N., Kropach-Gilad, N., Rhurman-Shahar, N., Averbuch, N. S., Magal, N., Bazak, L., Josefberg, S., Matar, R. & Goldberg, Y. & 3 others, Shohat, M., Basel-Salmon, L. & Maya, I., 1 Oct 2020, In: Genetics in Medicine. 22, 10, p. 1703-1709 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

5 Scopus citations

Ten points to consider when providing genetic counseling for variants of incomplete penetrance and variable expressivity detected in a prenatal setting

Maya, I., Sukenik-Halevy, R., Basel-Salmon, L. & Sagi-Dain, L., 1 Nov 2020, In: Acta Obstetricia et Gynecologica Scandinavica. 99, 11, p. 1427-1429 3 p.

Research output: Contribution to journal › Editorial

Open Access

3 Scopus citations

2019

Bayesian-based noninvasive prenatal diagnosis of single-gene disorders

Rabinowitz, T., Polsky, A., Golan, D., Danilevsky, A., Shapira, G., Raff, C., Basel-Salmon, L., Matar, R. T. & Shomron, N., Mar 2019, In: Genome Research. 29, 3, p. 428-438 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

32 Scopus citations

Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies

Sagi-Dain, L., Cohen Vig, L., Kahana, S., Yacobson, S., Tenne, T., Agmon-Fishman, I., Klein, C., Matar, R., Basel-Salmon, L. & Maya, I., 1 Nov 2019, In: Genetics in Medicine. 21, 11, p. 2462-2467 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

65 Scopus citations

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

on behalf of the ClinGen Hearing Loss Working Group, 1 Nov 2019, In: Genetics in Medicine. 21, 11, p. 2442-2452 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

69 Scopus citations

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures (Brain (2019))

Horn, S., Au, M., Basel-Salmon, L., Bayrak-Toydemir, P., Chapin, A., Cohen, L., Elting, M. W., Graham, J. M., Gonzaga-Jauregui, C., Konen, O., Holzer, M., Lemke, J., Miller, C. E., Rey, L. K., Wolf, N. I., Weiss, M. M., Waisfisz, Q., Mirzaa, G. M., Wieczorek, D. & Sticht, H. & 1 others, Jamra, R. A., 1 Nov 2019, In: Brain. 142, 11, p. 3351-3359 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

33 Scopus citations

Identifying facial phenotypes of genetic disorders using deep learning

Gurovich, Y., Hanani, Y., Bar, O., Nadav, G., Fleischer, N., Gelbman, D., Basel-Salmon, L., Krawitz, P. M., Kamphausen, S. B., Zenker, M., Bird, L. M. & Gripp, K. W., 1 Jan 2019, In: Nature Medicine. 25, 1, p. 60-64 5 p.

Research output: Contribution to journal › Article › peer-review

453 Scopus citations

Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested

Salmon, L. B., Orenstein, N., Markus-Bustani, K., Ruhrman-Shahar, N., Kilim, Y., Magal, N., Hubshman, M. W. & Bazak, L., 1 Jun 2019, In: Genetics in Medicine. 21, 6, p. 1443-1451 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

71 Scopus citations

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

Magini, P., Smits, D. J., Vandervore, L., Schot, R., Columbaro, M., Kasteleijn, E., van der Ent, M., Palombo, F., Lequin, M. H., Dremmen, M., de Wit, M. C. Y., Severino, M., Divizia, M. T., Striano, P., Ordonez-Herrera, N., Alhashem, A., Al Fares, A., Al Ghamdi, M., Rolfs, A. & Bauer, P. & 32 others, Demmers, J., Verheijen, F. W., Wilke, M., van Slegtenhorst, M., van der Spek, P. J., Seri, M., Jansen, A. C., Stottmann, R. W., Hufnagel, R. B., Hopkin, R. J., Aljeaid, D., Wiszniewski, W., Gawlinski, P., Laure-Kamionowska, M., Alkuraya, F. S., Akleh, H., Stanley, V., Musaev, D., Gleeson, J. G., Zaki, M. S., Brunetti-Pierri, N., Cappuccio, G., Davidov, B., Basel-Salmon, L., Bazak, L., Shahar, N. R., Bertoli-Avella, A., Mirzaa, G. M., Dobyns, W. B., Pippucci, T., Fornerod, M. & Mancini, G. M. S., 3 Oct 2019, In: American Journal of Human Genetics. 105, 4, p. 689-705 17 p.

Research output: Contribution to journal › Article › peer-review

Open Access

40 Scopus citations

Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews

Weisz-Hubshman, M., Meirson, H., Michaelson-Cohen, R., Beeri, R., Tzur, S., Bormans, C., Modai, S., Shomron, N., Shilon, Y., Banne, E., Orenstein, N., Konen, O., Marek-Yagel, D., Veber, A., Shalva, N., Imagawa, E., Matsumoto, N., Lev, D., Lerman Sagie, T. & Raas-Rothschild, A. & 4 others, Ben-Zeev, B., Basel-Salmon, L., Behar, D. M. & Heimer, G., May 2019, In: European Journal of Paediatric Neurology. 23, 3, p. 418-426 9 p.

Research output: Contribution to journal › Article › peer-review

16 Scopus citations

The rare 13q33–q34 microdeletions: eight new patients and review of the literature

Sagi-Dain, L., Goldberg, Y., Peleg, A., Sukenik-Halevy, R., Sofrin-Drucker, E., Appelman, Z., Josefsberg, B. Y. S., Ben-Shachar, S., Vinkler, C., Basel-Salmon, L. & Maya, I., 1 Oct 2019, In: Human Genetics. 138, 10, p. 1145-1153 9 p.

Research output: Contribution to journal › Article › peer-review

12 Scopus citations

The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients

Bernstein-Molho, R., Barnes-Kedar, I., Ludman, M. D., Reznik, G., Feldman, H. B., Samra, N. N., Eilat, A., Peretz, T., Peretz, L. P., Shapira, T., Magal, N., Kalis, M. L., Yerushalmi, R., Vinkler, C., Liberman, S., Basel-Salmon, L., Shohat, M., Levy-Lahad, E., Friedman, E. & Bazak, L. & 1 others, Goldberg, Y., 1 Nov 2019, In: Breast Cancer Research and Treatment. 178, 1, p. 231-237 7 p.

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

Variable features of juvenile polyposis syndrome with gastric involvement among patients with a large genomic deletion of BMPR1A

Lieberman, S., Beeri, R., Walsh, T., Schechter, M., Keret, D., Half, E., Gulsuner, S., Tomer, A., Jacob, H., Cohen, S., Basel-Salmon, L., Mansur, M., Berger, R., Katz, L. H., Golomb, E., Peretz, T., Levy, Z., Kedar, I., King, M. C. & Levy-Lahad, E. & 1 others, Goldberg, Y., 2019, In: Clinical and Translational Gastroenterology. 10, 7, e-00054.

Research output: Contribution to journal › Article › peer-review

Open Access

10 Scopus citations

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

Shohet, A., Cohen, L., Haguel, D., Mozer, Y., Shomron, N., Tzur, S., Bazak, L., Basel Salmon, L. & Krause, I., 1 Feb 2019, In: European Journal of Human Genetics. 27, 2, p. 263-268 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

21 Scopus citations

2018

A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder

Orenstein, N., Goldberg-Stern, H., Straussberg, R., Bazak, L., Weisz Hubshman, M., Kropach, N., Gilad, O., Scheuerman, O., Dory, Y., Kraus, D., Tzur, S., Magal, N., Kilim, Y., Shkalim Zemer, V. & Basel-Salmon, L., May 2018, In: European Journal of Paediatric Neurology. 22, 3, p. 516-524 9 p.

Research output: Contribution to journal › Article › peer-review

25 Scopus citations

Corrigendum to “X-linked elliptocytosis with impaired growth is related to mutated AMMECR1” [Gene 606C (2017) 47–52](S037811191730001X)(10.1016/j.gene.2017.01.001)

Basel-Vanagaite, L., Pillar, N., Isakov, O., Smirin-Yosef, P., Lagovsky, I., Orenstein, N., Salmon-Divon, M., Tamary, H., Zaft, T., Bazak, L., Meyerovitch, J., Pelli, T., Botchan, S., Farberov, L., Weissglas-Volkov, D. & Shomron, N., 20 Feb 2018, In: Gene. 644, p. 155 1 p.

Research output: Contribution to journal › Comment/debate

Cytogenetic analysis in fetuses with late onset abnormal sonographic findings

Bardin, R., Hadar, E., Haizler-Cohen, L., Gabbay-Benziv, R., Meizner, I., Kahana, S., Yeshaya, J., Yacobson, S., Cohen-Vig, L., Agmon-Fishman, I., Basel-Vanagaite, L. & Maya, I., 1 Dec 2018, In: Journal of Perinatal Medicine. 46, 9, p. 975-982 8 p.

Research output: Contribution to journal › Article › peer-review

18 Scopus citations

Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients

Yilmaz, R., Szakszon, K., Altmann, A., Altunoglu, U., Senturk, L., McGuire, M., Calabrese, O., Madan-Khetarpal, S., Basel-Vanagaite, L. & Borck, G., Jan 2018, In: American Journal of Medical Genetics, Part A. 176, 1, p. 187-193 7 p.

Research output: Contribution to journal › Article › peer-review

13 Scopus citations

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

C4RCD Research Group & DDD study, Nov 2018, In: American Journal of Medical Genetics, Part A. 176, 11, p. 2259-2275 17 p.

Research output: Contribution to journal › Article › peer-review

Open Access

46 Scopus citations

Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy

Abbott, J. A., Meyer-Schuman, R., Lupo, V., Feely, S., Mademan, I., Oprescu, S. N., Griffin, L. B., Alberti, M. A., Casasnovas, C., Aharoni, S., Basel-Vanagaite, L., Züchner, S., De Jonghe, P., Baets, J., Shy, M. E., Espinós, C., Demeler, B., Antonellis, A. & Francklyn, C., Mar 2018, In: Human Mutation. 39, 3, p. 415-432 18 p.

Research output: Contribution to journal › Article › peer-review

Open Access

25 Scopus citations

The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations

Barnes-Kedar, I., Bernstein-Molho, R., Ginzach, N., Hartmajer, S., Shapira, T., Magal, N., Kalis, M. L., Peretz, T., Shohat, M., Basel-Salmon, L., Friedman, E., Bazak, L. & Goldberg, Y., 1 Nov 2018, In: Breast Cancer Research and Treatment. 172, 1, p. 151-157 7 p.

Research output: Contribution to journal › Article › peer-review

18 Scopus citations

When genotype is not predictive of phenotype: Implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations

Maya, I., Sharony, R., Yacobson, S., Kahana, S., Yeshaya, J., Tenne, T., Agmon-Fishman, I., Cohen-Vig, L., Goldberg, Y., Berger, R., Basel-Salmon, L. & Shohat, M., 1 Jan 2018, In: Genetics in Medicine. 20, 1, p. 128-131 4 p.

Research output: Contribution to journal › Article › peer-review

Open Access

54 Scopus citations

Lina Basel

Research output

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