Lina Basel

2015

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

Kumar, R., Corbett, M. A., Van Bon, B. W. M., Gardner, A., A.Woenig, J., Jolly, L. A., Douglas, E., Friend, K., Tan, C., Van Esch, H., Holvoet, M., Raynaud, M., Field, M., Leffler, M., Budny, B., Wisniewska, M., Badura-Stronka, M., Latos-Bieleńska, A., Batanian, J. & Rosenfeld, J. A. & 16 others, Basel-Vanagaite, L., Jensen, C., Bienek, M., Froyen, G., Ullmann, R., Hu, H., Love, M. I., Haas, S. A., Stankiewicz, P., Cheung, S. W., Baxendale, A., Nicholl, J., Thompson, E. M., Haan, E., Kalscheuer, V. M. & Gecz, J., 20 Dec 2015, In: Human Molecular Genetics. 24, 25, p. 7171-7181 11 p.

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

Open Access

31 Scopus citations

Keppen-lubinsky syndrome is caused by mutations in the inwardly rectifying K⁺ channel encoded by KCNJ6

Masotti, A., Uva, P., Davis-Keppen, L., Basel-Vanagaite, L., Cohen, L., Pisaneschi, E., Celluzzi, A., Bencivenga, P., Fang, M., Tian, M., Xu, X., Cappa, M. & Dallapiccola, B., 5 Feb 2015, In: American Journal of Human Genetics. 96, 2, p. 295-300 6 p.

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

Open Access

87 Scopus citations

Lethal neonatal rigidity and multifocal seizure syndrome - Report of another family with a BRAT1 mutation

Straussberg, R., Ganelin-Cohen, E., Goldberg-Stern, H., Tzur, S., Behar, D. M., Smirin-Yosef, P., Salmon-Divon, M. & Basel-Vanagaite, L., 1 Mar 2015, In: European Journal of Paediatric Neurology. 19, 2, p. 240-242 3 p.

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

28 Scopus citations

2014

A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES)

Zanni, G., Barresi, S., Cohen, R., Specchio, N., Basel-Vanagaite, L., Valente, E. M., Shuper, A., Vigevano, F. & Bertini, E., May 2014, In: Epilepsy Research. 108, 4, p. 811-815 5 p.

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

39 Scopus citations

A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family

Eytan, O., Sarig, O., Israeli, S., Mevorah, B., Basel-Vanagaite, L. & Sprecher, E., Mar 2014, In: Clinical and Experimental Dermatology. 39, 2, p. 182-186 5 p.

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

13 Scopus citations

Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plus

Goldberg-Stern, H., Aharoni, S., Afawi, Z., Bennett, O., Appenzeller, S., Pendziwiat, M., Kuhlenbäumer, G., Basel-Vanagaite, L., Shuper, A., Korczyn, A. D. & Helbig, I., Feb 2014, In: Journal of Child Neurology. 29, 2, p. 221-226 6 p.

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

49 Scopus citations

Dominant mutations in GRHL3 cause Van der Woude syndrome and disrupt oral periderm development

Peyrard-Janvid, M., Leslie, E. J., Kousa, Y. A., Smith, T. L., Dunnwald, M., Magnusson, M., Lentz, B. A., Unneberg, P., Fransson, I., Koillinen, H. K., Rautio, J., Pegelow, M., Karsten, A., Basel-Vanagaite, L., Gordon, W., Andersen, B., Svensson, T., Murray, J. C., Cornell, R. A. & Kere, J. & 1 others, Schutte, B. C., 2 Jan 2014, In: American Journal of Human Genetics. 94, 1, p. 23-32 10 p.

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

Open Access

175 Scopus citations

Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency

De Vries, L., Behar, D. M., Smirin-Yosef, P., Lagovsky, I., Tzur, S. & Basel-Vanagaite, L., 1 Oct 2014, In: Journal of Clinical Endocrinology and Metabolism. 99, 10, p. E2129-E2132

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

133 Scopus citations

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

Basel-Vanagaite, L., Yilmaz, R., Tang, S., Reuter, M. S., Rahner, N., Grange, D. K., Mortenson, M., Koty, P., Feenstra, H., Farwell Gonzalez, K. D., Sticht, H., Boddaert, N., Désir, J., Anyane-Yeboa, K., Zweier, C., Reis, A., Kubisch, C., Jewett, T., Zeng, W. & Borck, G., Jul 2014, In: Human Genetics. 133, 7, p. 939-949 11 p.

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

28 Scopus citations

Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome

Piras, R., Chiappe, F., Torraca, I. L., Buers, I., Usala, G., Angius, A., Akin, M. A., Basel-Vanagaite, L., Benedicenti, F., Chiodin, E., El Assy, O., Feingold-Zadok, M., Guibert, J., Kamien, B., Kasapkara, Ç. S., Kiliç, E., Boduroǧlu, K., Kurtoglu, S., Manzur, A. Y. & Onal, E. E. & 11 others, Paderi, E., Roche, C. H., Tümer, L., Unal, S., Utine, G. E., Zanda, G., Zankl, A., Zampino, G., Crisponi, G., Crisponi, L. & Rutsch, F., Apr 2014, In: Human Mutation. 35, 4, p. 424-433 10 p.

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

Open Access

20 Scopus citations

Homozygous truncating PTPRF mutation causes athelia

Borck, G., De Vries, L., Wu, H. J., Smirin-Yosef, P., Nürnberg, G., Lagovsky, I., Ishida, L. H., Thierry, P., Wieczorek, D., Nürnberg, P., Foley, J., Kubisch, C. & Basel-Vanagaite, L., Aug 2014, In: Human Genetics. 133, 8, p. 1041-1047 7 p.

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

6 Scopus citations

Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency

Behar, D. M., Basel-Vanagaite, L., Glaser, F., Kaplan, M., Tzur, S., Magal, N., Eidlitz-Markus, T., Haimi-Cohen, Y., Sarig, G., Bormans, C., Shohat, M. & Zeharia, A., Feb 2014, In: Journal of Lipid Research. 55, 2, p. 307-312 6 p.

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

Open Access

30 Scopus citations

Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22

Cohen, R., Basel-Vanagaite, L., Goldberg-Stern, H., Halevy, A., Shuper, A., Feingold-Zadok, M., Behar, D. M. & Straussberg, R., 1 Nov 2014, In: European Journal of Paediatric Neurology. 18, 6, p. 801-805 5 p.

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

26 Scopus citations

2013

A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family

Abu-Rashid, M., Mahajnah, M., Jaber, L., Kornreich, L., Bar-On, E., Basel-Vanagaite, L., Soffer, D., Koenig, M. & Straussberg, R., May 2013, In: European Journal of Paediatric Neurology. 17, 3, p. 259-264 6 p.

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

11 Scopus citations

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum

Basel-Vanagaite, L., Hershkovitz, T., Heyman, E., Raspall-Chaure, M., Kakar, N., Smirin-Yosef, P., Vila-Pueyo, M., Kornreich, L., Thiele, H., Bode, H., Lagovsky, I., Dahary, D., Haviv, A., Hubshman, M. W., Pasmanik-Chor, M., Nürnberg, P., Gothelf, D., Kubisch, C., Shohat, M. & Macaya, A. & 1 others, Borck, G., 5 Sep 2013, In: American Journal of Human Genetics. 93, 3, p. 524-529 6 p.

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

Open Access

70 Scopus citations

Genetic heterogeneity and consanguinity lead to a "double hit": Homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa

Goldenberg-Cohen, N., Banin, E., Zalzstein, Y., Cohen, B., Rotenstreich, Y., Rizel, L., Basel-Vanagaite, L. & Ben-Yosef, T., 20 Jul 2013, In: Molecular Vision. 19, p. 1565-1571 7 p.

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

18 Scopus citations

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

Gordon, C. T., Vuillot, A., Marlin, S., Gerkes, E., Henderson, A., AlKindy, A., Holder-Espinasse, M., Park, S. S., Omarjee, A., Sanchis-Borja, M., Ben Bdira, E., Oufadem, M., Sikkema-Raddatz, B., Stewart, A., Palmer, R., McGowan, R., Petit, F., Delobel, B., Speicher, M. R. & Aurora, P. & 28 others, Kilner, D., Pellerin, P., Simon, M., Bonnefont, J. P., Tobias, E. S., García-Miñaúr, S., Bitner-Glindzicz, M., Lindholm, P., Meijer, B. A., Abadie, V., Denoyelle, F., Vazquez, M. P., Rotky-Fast, C., Couloigner, V., Pierrot, S., Manach, Y., Breton, S., Hendriks, Y. M. C., Munnich, A., Jakobsen, L., Kroisel, P., Lin, A., Kaban, L. B., Basel-Vanagaite, L., Wilson, L., Cunningham, M. L., Lyonnet, S. & Amiel, J., 2013, In: Journal of Medical Genetics. 50, 3, p. 174-186 13 p.

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

Open Access

43 Scopus citations

Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2

Hellman-Aharony, S., Smirin-Yosef, P., Halevy, A., Pasmanik-Chor, M., Yeheskel, A., Har-Zahav, A., Maya, I., Straussberg, R., Dahary, D., Haviv, A., Shohat, M. & Basel-Vanagaite, L., Dec 2013, In: Pediatric Neurology. 49, 6, p. 411-416.e1

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

29 Scopus citations

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction

Koehler, K., Malik, M., Mahmood, S., Gießelmann, S., Beetz, C., Hennings, J. C., Huebner, A. K., Grahn, A., Reunert, J., Nürnberg, G., Thiele, H., Altmüller, J., Nürnberg, P., Mumtaz, R., Babovic-Vuksanovic, D., Basel-Vanagaite, L., Borck, G., Brämswig, J., Mühlenberg, R. & Sarda, P. & 12 others, Sikiric, A., Anyane-Yeboa, K., Zeharia, A., Ahmad, A., Coubes, C., Wada, Y., Marquardt, T., Vanderschaeghe, D., Van Schaftingen, E., Kurth, I., Huebner, A. & Hübner, C. A., 3 Oct 2013, In: American Journal of Human Genetics. 93, 4, p. 727-734 8 p.

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

Open Access

57 Scopus citations

Mutations in PIK3R1 cause SHORT syndrome

Dyment, D. A., Smith, A. C., Alcantara, D., Schwartzentruber, J. A., Basel-Vanagaite, L., Curry, C. J., Temple, I. K., Reardon, W., Mansour, S., Haq, M. R., Gilbert, R., Lehmann, O. J., Vanstone, M. R., Beaulieu, C. L., Majewski, J., Bulman, D. E., O'Driscoll, M., Boycott, K. M. & Innes, A. M., 11 Jul 2013, In: American Journal of Human Genetics. 93, 1, p. 158-166 9 p.

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

Open Access

158 Scopus citations

Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

Handley, M. T., Morris-Rosendahl, D. J., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S. M., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., Pinelli, L., Basel-Vanagaite, L., Peretz, G., Abdel-Salam, G. M. H., Zaki, M. S., Jansen, A., Mowat, D. & Glass, I. & 15 others, Stewart, H., Mancini, G., Lederer, D., Roscioli, T., Giuliano, F., Plomp, A. S., Rolfs, A., Graham, J. M., Seemanova, E., Poo, P., García-Cazorla, À., Edery, P., Jackson, I. J., Maher, E. R. & Aligianis, I. A., May 2013, In: Human Mutation. 34, 5, p. 686-696 11 p.

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

108 Scopus citations

Severe hypertriglyceridemia in an infant of Arab descent

Behar, D. M., Adler, L. & Basel-Vanagaite, L., Jan 2013, In: Israel Medical Association Journal. 15, 1, p. 53-54 2 p.

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

2 Scopus citations

2012

Deficiency for the ubiquitin ligase ube3b in a blepharophimosis-ptosis- intellectual-disability syndrome

Basel-Vanagaite, L., Dallapiccola, B., Ramirez-Solis, R., Segref, A., Thiele, H., Edwards, A., Arends, M. J., Miró, X., White, J. K., Désir, J., Abramowicz, M., Dentici, M. L., Lepri, F., Hofmann, K., Har-Zahav, A., Ryder, E., Karp, N. A., Estabel, J., Gerdin, A. K. B. & Podrini, C. & 16 others, Ingham, N. J., Altmüller, J., Nürnberg, G., Frommolt, P., Abdelhak, S., Pasmanik-Chor, M., Konen, O., Kelley, R. I., Shohat, M., Nürnberg, P., Flint, J., Steel, K. P., Hoppe, T., Kubisch, C., Adams, D. J. & Borck, G., 7 Dec 2012, In: American Journal of Human Genetics. 91, 6, p. 998-1010 13 p.

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

Open Access

75 Scopus citations

EIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation

Borck, G., Shin, B. S., Stiller, B., Mimouni-Bloch, A., Thiele, H., Kim, J. R., Thakur, M., Skinner, C., Aschenbach, L., Smirin-Yosef, P., Har-Zahav, A., Nürnberg, G., Altmüller, J., Frommolt, P., Hofmann, K., Konen, O., Nürnberg, P., Munnich, A., Schwartz, C. E. & Gothelf, D. & 4 others, Colleaux, L., Dever, T. E., Kubisch, C. & Basel-Vanagaite, L., 30 Nov 2012, In: Molecular Cell. 48, 4, p. 641-646 6 p.

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

Open Access

65 Scopus citations

Genotype-phenotype correlation in 22q11.2 deletion syndrome

Michaelovsky, E., Frisch, A., Carmel, M., Patya, M., Zarchi, O., Green, T., Basel-Vanagaite, L., Weizman, A. & Gothelf, D., 17 Dec 2012, In: BMC Medical Genetics. 13, 122.

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

Open Access

83 Scopus citations

High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel

Borck, G., Rainshtein, L., Hellman-Aharony, S., Volk, A., Friedrich, K., Taub, E., Magal, N., Kanaan, M., Kubisch, C., Shohat, M. & Basel-Vanagaite, L., Sep 2012, In: Clinical Genetics. 82, 3, p. 271-276 6 p.

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

19 Scopus citations

Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12

Halevy, A., Basel-Vanagaite, L., Shuper, A., Helman, S., Har-Zahav, A., Birk, E., Maya, I., Kornreich, L., Inbar, D., Nürnberg, G., Nürnberg, P., Steinberg, T. & Straussberg, R., Jun 2012, In: Pediatric Neurology. 46, 6, p. 363-368 6 p.

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

13 Scopus citations

Phenotypic psychiatric characterization of children with Williams syndrome and response of those with ADHD to methylphenidate treatment

Green, T., Avda, S., Dotan, I., Zarchi, O., Basel-Vanagaite, L., Zalsman, G., Weizman, A. & Gothelf, D., Jan 2012, In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 159 B, 1, p. 13-20 8 p.

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

37 Scopus citations

Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1

Basel-Vanagaite, L., Zevit, N., Zahav, A. H., Guo, L., Parathath, S., Pasmanik-Chor, M., McIntyre, A. D., Wang, J., Albin-Kaplanski, A., Hartman, C., Marom, D., Zeharia, A., Badir, A., Shoerman, O., Simon, A. J., Rechavi, G., Shohat, M., Hegele, R. A., Fisher, E. A. & Shamir, R., 13 Jan 2012, In: American Journal of Human Genetics. 90, 1, p. 49-60 12 p.

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

Open Access

74 Scopus citations

2011

A comparative study of hearing loss in two microdeletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) Syndromes

Zarchi, O., Attias, J., Raveh, E., Basel-Vanagaite, L., Saporta, L. & Gothelf, D., Feb 2011, In: Journal of Pediatrics. 158, 2, p. 301-306 6 p.

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

23 Scopus citations

An emerging 1q21.1 deletion-associated neurodevelopmental phenotype

Basel-Vanagaite, L., Goldberg-Stern, H., Mimouni-Bloch, A., Shkalim, V., Böhm, D. & Kohlhase, J., Jan 2011, In: Journal of Child Neurology. 26, 1, p. 113-116 4 p.

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

20 Scopus citations

Case series: 2q33.1 microdeletion syndrome-further delineation of the phenotype

Balasubramanian, M., Smith, K., Basel-Vanagaite, L., Feingold, M. F., Brock, P., Gowans, G. C., Vasudevan, P. C., Cresswell, L., Taylor, E. J., Harris, C. J., Friedman, N., Moran, R., Feret, H., Zackai, E. H., Theisen, A., Rosenfeld, J. A. & Parker, M. J., May 2011, In: Journal of Medical Genetics. 48, 5, p. 290-298 9 p.

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

Open Access

55 Scopus citations

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Namavar, Y., Barth, P. G., Kasher, P. R., Van Ruissen, F., Brockmann, K., Bernert, G., Writzl, K., Ventura, K., Cheng, E. Y., Ferriero, D. M., Basel-Vanagaite, L., Eggens, V. R. C., Krägeloh-Mann, I., De Meirleir, L., King, M., Graham, J. M., Von Moers, A., Knoers, N., Sztriha, L. & Korinthenberg, R. & 3 others, Dobyns, W. B., Baas, F. & Poll-The, B. T., Jan 2011, In: Brain. 134, 1, p. 143-156 14 p.

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

Open Access

189 Scopus citations

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN

Maydan, G., Noyman, I., Har-Zahav, A., Neriah, Z. B., Pasmanik-Chor, M., Yeheskel, A., Albin-Kaplanski, A., Maya, I., Magal, N., Birk, E., Simon, A. J., Halevy, A., Rechavi, G., Shohat, M., Straussberg, R. & Basel-Vanagaite, L., Jun 2011, In: Journal of Medical Genetics. 48, 6, p. 383-389 7 p.

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

138 Scopus citations

Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: A new genetic syndrome?

Shkalim, V., Ben-Sira, L., Inbar, D., Kaadan, W., Basel-Vanagaite, L. & Straussberg, R., May 2011, In: American Journal of Medical Genetics, Part A. 155, 5, p. 1060-1065 6 p.

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

1 Scopus citations

X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome?

Marom, D., Albin, A., Schwartz, C., Har-Zahav, A., Straussberg, R., Bartel, F., Birk, E., Inbar, D. & Basel-Vanagaite, L., Aug 2011, In: American Journal of Medical Genetics, Part A. 155, 8, p. 1959-1963 5 p.

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

4 Scopus citations

2010

Acute lymphoblastic leukemia in weaver syndrome

Basel-Vanagaite, L., Feb 2010, In: American Journal of Medical Genetics, Part A. 152, 2, p. 383-386 4 p.

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

26 Scopus citations

Clinical and Brain Imaging Heterogeneity of Severe Microcephaly

Basel-Vanagaite, L. & Dobyns, W. B., Jul 2010, In: Pediatric Neurology. 43, 1, p. 7-16 10 p.

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

28 Scopus citations

Familial hydrocephalus with normal cognition and distinctive radiological features

Basel-Vanagaite, L., Raas-Rotchild, A., Kornreich, L., Har-Zahav, A., Yeshaya, J., Latarowski, V., Lerer, I., Dobyns, W. B. & Shohat, M., Nov 2010, In: American Journal of Medical Genetics, Part A. 152, 11, p. 2743-2748 6 p.

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

5 Scopus citations

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system

Birk, E., Har-Zahav, A., Manzini, C. M., Pasmanik-Chor, M., Kornreich, L., Walsh, C. A., Noben-Trauth, K., Albin, A., Simon, A. J., Colleaux, L., Morad, Y., Rainshtein, L., Tischfield, D. J., Wang, P., Magal, N., Maya, I., Shoshani, N., Rechavi, G., Gothelf, D. & Maydan, G. & 2 others, Shohat, M. & Basel-Vanagaite, L., 12 Nov 2010, In: American Journal of Human Genetics. 87, 5, p. 694-700 7 p.

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

Open Access

18 Scopus citations

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene

Sun, Y., Almomani, R., Aten, E., Celli, J., Van Der Heijden, J., Venselaar, H., Robertson, S. P., Baroncini, A., Franco, B., Basel-Vanagaite, L., Horii, E., Drut, R., Ariyurek, Y., Den Dunnen, J. T. & Breuning, M. H., 9 Jul 2010, In: American Journal of Human Genetics. 87, 1, p. 146-153 8 p.

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

Open Access

50 Scopus citations

2009

A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

Mochida, G. H., Mahajnah, M., Hill, A. D., Basel-Vanagaite, L., Gleason, D., Hill, R. S., Bodell, A., Crosier, M., Straussberg, R. & Walsh, C. A., 11 Dec 2009, In: American Journal of Human Genetics. 85, 6, p. 897-902 6 p.

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

Open Access

126 Scopus citations

Fetal alcohol spectrum disorder in Israel

Senecky, Y., Inbar, D., Diamond, G., Basel-Vanagaite, L., Rigler, S. & Chodick, G., Oct 2009, In: Israel Medical Association Journal. 11, 10, p. 619-622 4 p.

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

17 Scopus citations

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Hucthagowder, V., Morava, E., Kornak, U., Lefeber, D. J., Fischer, B., Dimopoulou, A., Aldinger, A., Choi, J., Davis, E. C., Abuelo, D. N., Adamowicz, M., Al-Aama, J., Basel-Vanagaite, L., Fernandez, B., Greally, M. T., Gillessen-Kaesbach, G., Kayserili, H., Lemyre, E., Tekin, M. & Türkmen, S. & 6 others, Tuysuz, B., Yüksel-Konuk, B., Mundlos, S., Van Maldergem, L., Wevers, R. A. & Urban, Z., 2009, In: Human Molecular Genetics. 18, 12, p. 2149-2165 17 p.

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

Open Access

105 Scopus citations

RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome

Basel-Vanagaite, L., Sarig, O., Hershkovitz, D., Fuchs-Telem, D., Rapaport, D., Gat, A., Isman, G., Shirazi, I., Shohat, M., Enk, C. D., Birk, E., Kohlhase, J., Matysiak-Scholze, U., Maya, I., Knopf, C., Peffekoven, A., Hennies, H. C., Bergman, R., Horowitz, M. & Ishida-Yamamoto, A. & 1 others, Sprecher, E., 14 Aug 2009, In: American Journal of Human Genetics. 85, 2, p. 254-263 10 p.

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

Open Access

65 Scopus citations

2008

Autosomal dominant isolated question mark ear

Shkalim, V., Eliaz, N., Linder, N., Merlob, P. & Basel-Vanagaite, L., 1 Sep 2008, In: American Journal of Medical Genetics, Part A. 146, 17, p. 2280-2283 4 p.

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

13 Scopus citations

Autosomal recessive ichthyosis with hypotrichosis syndrome: Further delineation of the phenotype

Avrahami, L., Maas, S., Pasmanik-Chor, M., Rainshtein, L., Magal, N., Smitt, J. H. S., Van Marle, J., Shohat, M. & Basel-Vanagaite, L., Jul 2008, In: Clinical Genetics. 74, 1, p. 47-53 7 p.

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

46 Scopus citations

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type

Van Maldergem, L., Yuksel-Apak, M., Kayserili, H., Seemanova, E., Giurgea, S., Basel-Vanagaite, L., Leao-Teles, E., Vigneron, J., Foulon, M., Greally, M., Jaeken, J., Mundlos, S. & Dobyns, W. B., 11 Nov 2008, In: Neurology. 71, 20, p. 1602-1608 7 p.

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

Open Access

40 Scopus citations

Ethnically diverse causes of walker-warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the middle east

Manzini, M. C., Gleason, D., Chang, B. S., Hill, R. S., Barry, B. J., Partlow, J. N., Poduri, A., Currier, S., Galvin-Parton, P., Shapiro, L. R., Schmidt, K., Davis, J. G., Basel-Vanagaite, L., Seidahmed, M. Z., Salih, M. A. M., Dobyns, W. B. & Walsh, C. A., Nov 2008, In: Human Mutation. 29, 11, p. E231-E241

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

Open Access

64 Scopus citations

Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel

Basel-Vanagaite, L., Taub, E., Drasinover, V., Magal, N., Brudner, A., Zlotogora, J. & Shohat, M., 1 Mar 2008, In: Genetic Testing. 12, 1, p. 53-56 4 p.

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

25 Scopus citations

Lina Basel

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