• 789 Citations
  • 13 h-Index
19952019

Research output per year

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Research Output

  • 789 Citations
  • 13 h-Index
  • 22 Article
  • 1 Letter
  • 1 Review article
2019

Tight junction protein occludin regulates progenitor self-renewal and survival in developing cortex

Bendriem, R. M., Singh, S., Aleem, A. A., Antonetti, D. A. & Ross, M. E., Dec 2019, In : eLife. 8, e49376.

Research output: Contribution to journalArticle

Open Access
2018

Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome

Elsaid, M. F., Chalhoub, N., Ben-Omran, T., Kamel, H., AL Mureikhi, M., Ibrahim, K., Elizabeth Ross, M. & Kamal Abd El Aleem, A., 1 Feb 2018, In : Clinical Genetics. 93, 2, p. 387-391 5 p.

Research output: Contribution to journalArticle

2017

Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia

Elsaid, M. F., Chalhoub, N., Ben-Omran, T., Kumar, P., Kamel, H., Ibrahim, K., Ali Mohamoud, Y., Aldous, E., Al Azwani, I., Malek, J., Suhre, K., Ross, M. E. & Kamal Abd El Aleem, A., 1 Jan 2017, In : Annals of Neurology. 81, 1, p. 68-78 11 p.

Research output: Contribution to journalArticle

18 Citations (Scopus)

NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): Case report of a new member of thin corpus callosum SPG-Subgroup

Elsaid, M. F., Ibrahim, K., Chalhoub, N., Elsotouhy, A., El Mudehki, N. & Kamal Abd El Aleem, A., 21 Mar 2017, In : BMC Medical Genetics. 18, 1, 33.

Research output: Contribution to journalArticle

8 Citations (Scopus)
2016

Non-truncating LIFR mutation: Causal for prominent congenital pain insensitivity phenotype with progressive vertebral destruction?

Elsaid, M. F., Chalhoub, N., Kamel, H., Ehlayel, M., Ibrahim, N., Elsaid, A., Kumar, P., Khalak, H., Ilyin, V. A., Suhre, K. & Kamal Abd El Aleem, A., 1 Feb 2016, In : Clinical Genetics. 89, 2, p. 210-216 7 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)
2014

Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients

Mahmoud, I. G., Mahmoud, M., Refaat, M., Girgis, M., Waked, N., El Badawy, A., Selim, L., Hassan, S. & Abdel Aleem, A. K., 1 Feb 2014, In : Pediatric Neurology. 50, 2, p. 140-148 9 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Evaluation of SNP calling using single and multiple-sample calling algorithms by validation against array base genotyping and Mendelian inheritance

Kumar, P., Al-Shafai, M., Al Muftah, W. A., Chalhoub, N., Elsaid, M. F., Kamal Abd El Aleem, A. & Suhre, K., 2014, In : BMC Research Notes. 7, 1, 747.

Research output: Contribution to journalArticle

9 Citations (Scopus)

Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum

Elsaid, M. F., Kamel, H., Chalhoub, N., Aziz, N. A., Ibrahim, K., Ben-Omran, T., George, B., Al-Dous, E., Mohamoud, Y., Malek, J. A., Ross, M. E. & Aleem, A. A., Jun 2014, In : American Journal of Medical Genetics, Part A. 164, 6, p. 1614-1617 4 p.

Research output: Contribution to journalLetter

9 Citations (Scopus)
2013

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

International JSRD Study Group, Oct 2013, In : European Journal of Human Genetics. 21, 10, p. 1074-1078 5 p.

Research output: Contribution to journalArticle

31 Citations (Scopus)
2012

Molecular analysis of MECP2 gene in Egyptian patients with Rett syndrome

Zaki, M. S., Sharaf El-Din, W. E., Hamdy, G. M., Kamal, I. H. & Abdel Aleem, A. K., 1 Feb 2012, In : Egyptian Journal of Medical Human Genetics. 13, 1, p. 19-27 9 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)
2011

Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum

Aleem, A. A., Abu-Shahba, N., Swistun, D., Silhavy, J., Bielas, S. L., Sattar, S., Gleeson, J. G. & Zaki, M. S., 1 Jan 2011, In : European Journal of Medical Genetics. 54, 1, p. 82-85 4 p.

Research output: Contribution to journalArticle

8 Citations (Scopus)
2010

Chilblains as a diagnostic sign of aicardi-goutiéres syndrome

Abdel-Salam, G. M. H., El-Kamah, G. Y., Rice, G. I., El-Darouti, M., Gornall, H., Szynkiewicz, M., Aymard, F., Zaki, M. S., Abdel-Aleem, A. K., Lebon, P. & Crow, Y. J., 1 Jan 2010, In : Neuropediatrics. 41, 1, p. 18-23 6 p.

Research output: Contribution to journalArticle

20 Citations (Scopus)

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Iannicelli, M., Brancati, F., Mougou-Zerelli, S., Mazzotta, A., Thomas, S., Elkhartoufi, N., Travaglini, L., Gomes, C., Ardissino, G. L., Bertini, E., Boltshauser, E., Castorina, P., D'Arrigo, S., Fischetto, R., Leroy, B., Loget, P., Bonnière, M., Starck, L., Tantau, J., Gentilin, B. & 205 others, Majore, S., Swistun, D., Flori, E., Lalatta, F., Pantaleoni, C., Penzien, J., Grammatico, P., Dallapiccola, B., Gleeson, J. G., Attie-Bitach, T., Valente, E. M., Ali Pacha, L., Tazir, M., Zankl, A., Leventer, R., Grattan-Smith, P., Janecke, A., D'Hooghe, M., Sznajer, Y., Van Coster, R., Demerleir, L., Dias, K., Moco, C., Moreira, A., Ae Kim, C., Maegawa, G., Loncarevic, D., Mejaski-Bosnjak, V., Petkovic, D., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., Sigaudy, S., De Lonlay, P., Romano, S., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Collignon, P., Wolf, N., Philippi, H., Lemke, J., Dacou-Voutetakis, C., Kitsiou Tzeli, S., Pons, R., Sztriha, L., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S. R., Udani, V., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Di Giacomo, M., Gentile, M., Guanti, G., D'Addato, O., Papadia, F., Spano, M., Bernardi, F., Seri, M., Benedicenti, F., Stanzial, F., Borgatti, R., Accorsi, P., Battaglia, S., Fazzi, E., Giordano, L., Izzi, C., Pinelli, L., Boccone, L., Guanciali, P., Romoli, R., Bigoni, S., Ferlini, A., Andreucci, E., Donati, M. A., Genuardi, M., Caridi, G., Divizia, M. T., Faravelli, F., Ghiggeri, G., Pessagno, A., Amorini, M., Briguglio, M., Briuglia, S., Rigoli, L., Salpietro, C., Tortorella, G., Adami, A., Marra, G., Riva, D., Scelsa, B., Spaccini, L., Uziel, G., Coppola, G., Del Giudice, E., Vitiello, G., Laverda, A. M., Ludwig, K., Permunian, A., Suppiej, A., Macaluso, C., Signorini, S., Uggetti, C., Battini, R., Di Giacomo, M., Priolo, M., Cilio, M. R., D'Amico, A., Di Sabato, M. L., Emma, F., Leuzzi, V., Parisi, P., Stringini, G., Zanni, G., Pollazzon, M., Renieri, A., Vascotto, M., Silengo, M., De Vescovi, R., Greco, D., Romano, C., Cazzagon, M., Simonati, A., Al-Tawari, A. A., Bastaki, L., Mégarbané, A., Matuleviciene, A., Sabolic Avramovska, V., Said, E., De Jong, M. M., Prescott, T., Stromme, P., Von Der Lippe, C., Koul, R., Rajab, A., Azam, M., Barbot, C., Jocic-Jakubi, B., Gener Querol, B., Martorell Sampol, L., Rodriguez, B., Pascual-Castroviejo, I., Strozzi, S., Fluss, J., Teber M, S., Topcu, Anlar, B., Comu, S., Karaca, E., Kayserili, H., Yüksel, A., Akgul, M., Akcakus, M., Al Gazali, L., Nicholl, D., Woods, C. G., Bennett, C., Hurst, J., Sheridan, E., Barnicoat, A., Carr, L., Hennekam, R., Lees, M., McKay, F., Yates, L., Blair, E., Bernes, S., Sanchez, H., Clark, A. E., DeMarco, E., Donahue, C., Sherr, E., Hahn, J., Sanger, T. D., Gallager, T. E., Dobyns, W. B., Daugherty, C., Krishnamoorthy, K. S., Sarco, D., Walsh, C. A., McKanna, T., Milisa, J., Chung, W. K., De Vivo, D. C., Raynes, H., Schubert, R., Seward, A., Brooks, D. G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B. L., Holden, K., Cruse, R. P., Swoboda, K. J. & Viskochil, D., 1 May 2010, In : Human mutation. 31, 5, p. E1319-E1331

Research output: Contribution to journalArticle

45 Citations (Scopus)
2009

Expanding CEP290 mutational spectrumin ciliopathies

Travaglini, L., Brancati, F., Attie-Bitach, T., Audollent, S., Bertini, E., Kaplan, J., Perrault, I., Iannicelli, M., Mancuso, B., Rigoli, L., Rozet, J. M., Swistun, D., Tolentino, J., Dallapiccola, B., Gleeson, J. G., Valente, E. M., Zankl, A., Leventer, R., Grattan-Smith, P., Janecke, A. & 147 others, D'Hooghe, M., Sznajer, Y., Van Coster, R., Demerleir, L., Dias, K., Moco, C., Moreira, A., Ae Kim, C., Maegawa, G., Petkovic, D., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., Sigaudy, S., De Lonlay, P., Romano, S., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Collignon, P., Wolf, N., Philippi, H., Kitsiou Tzeli, S., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S. R., Udani, V., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Fischetto, R., Benedicenti, F., Stanzial, F., Borgatti, R., Accorsi, P., Battaglia, S., Fazzi, E., Giordano, L., Pinelli, L., Boccone, L., Bigoni, S., Ferlini, A., Donati, M. A., Caridi, G., Divizia, M. T., Faravelli, F., Ghiggeri, G., Pessagno, A., Briguglio, M., Briuglia, S., Salpietro, C. D., Tortorella, G., Adami, A., Castorina, P., Lalatta, F., Marra, G., Riva, D., Scelsa, B., Spaccini, L., Uziel, G., Del Giudice, E., Laverda, A. M., Ludwig, K., Permunian, A., Suppiej, A., Signorini, S., Uggetti, C., Battini, R., Di Giacomo, M., Cilio, M. R., Di Sabato, M. L., Leuzzi, V., Parisi, P., Pollazzon, M., Silengo, M., De Vescovi, R., Greco, D., Romano, C., Cazzagon, M., Simonati, A., Al-Tawari, A. A., Bastaki, L., Mégarbané, A., Sabolic Avramovska, V., De Jong, M. M., Stromme, P., Koul, R., Rajab, A., Azam, M., Barbot, C., Martorell Sampol, L., Rodriguez, B., Pascual-Castroviejo, I., Teber, S., Anlar, B., Comu, S., Karaca, E., Kayserili, H., Yüksel, A., Akcakus, M., Al Gazali, L., Sztriha, L., Nicholl, D., Woods, C. G., Bennett, C., Hurst, J., Sheridan, E., Barnicoat, A., Hennekam, R., Lees, M., Blair, E., Bernes, S., Sanchez, H., Clark, A. E., DeMarco, E., Donahue, C., Sherr, E., Hahn, J., Sanger, T. D., Gallager, T. E., Dobyns, W. B., Daugherty, C., Krishnamoorthy, K. S., Sarco, D., Walsh, C. A., McKanna, T., Milisa, J., Chung, W. K., De Vivo, D. C., Raynes, H., Schubert, R., Seward, A., Brooks, D. G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B. L., Holden, K., Cruse, R. P., Swoboda, K. J. & Viskochil, D., 1 Oct 2009, In : American Journal of Medical Genetics, Part A. 149, 10, p. 2173-2180 8 p.

Research output: Contribution to journalArticle

24 Citations (Scopus)

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Bielas, S. L., Silhavy, J. L., Brancati, F., Kisseleva, M. V., Al-Gazali, L., Sztriha, L., Bayoumi, R. A., Zaki, M. S., Abdel-Aleem, A., Rosti, R. O., Kayserili, H., Swistun, D., Scott, L. C., Bertini, E., Boltshauser, E., Fazzi, E., Travaglini, L., Field, S. J., Gayral, S., Jacoby, M. & 5 others, Schurmans, S., Dallapiccola, B., Majerus, P. W., Valente, E. M. & Gleeson, J. G., Sep 2009, In : Nature Genetics. 41, 9, p. 1032-1036 5 p.

Research output: Contribution to journalArticle

245 Citations (Scopus)
2008

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

Brancati, F., Travaglini, L., Zablocka, D., Boltshauser, E., Accorsi, P., Montagna, G., Silhavy, J. L., Barrano, G., Bertini, E., Emma, F., Rigoli, L., Leventer, R., Grattan-Smith, P., Janecke, A., D'Hooghe, M., Van Coster, R., Dias, K., Moco, C., Moreira, A., Kim, C. A. & 108 others, Maegawa, G., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., de Lonlay, P., Romano, S., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Philippi, H., Tzeli, S. K., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S. R., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Fischetto, R., Gentile, M., Battaglia, S., Giordano, L., Pinelli, L., Boccone, L., Ruggieri, M., Bigoni, S., Ferlini, A., Donati, M. A., Procopio, E., Caridi, G., Faravelli, F., Ghiggeri, G., Briuglia, S., Salpietro, C. D., Tortorella, G., D'Arrigo, S., Pantaleoni, C., Riva, D., Uziel, G., Laverda, A. M., Permunian, A., Bova, S., Battini, R., Cilio, M. R., Di Sabato, M., Leuzzi, V., Parisi, P., Simonati, A., Al-Tawari, A. A., Bastaki, L., Ahmad, de Jong, M. M., Koul, R., Rajab, A., Azam, M., Barbot, C., Rodriguez, B., Pascual-Castroviejo, I., Kayserili, H., Comu, S., Akcakus, M., Al Gazali, L., Sztriha, L., Nicholl, D., Woods, C. G., Bennett, C., Hurst, J., Hennekam, R., Lees, M., Bernes, S., Sanchez, H., Clark, A. E., DeMarco, E., DeMarco, E., Donahue, C., Sherr, E., Sanger, T. D., Gallager, T. E., Dobyns, W. B., Daugherty, C., Krishnamoorthy, K. S., Sarco, D., Walsh, C. A., McKanna, T., Milisa, J., Chung, W. K., De Vivo, D. C., Raynes, H., Schubert, R., Seward, A., Brooks, D. G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B. L., Holden, K., Cruse, R. P., Swoboda, K. J., Viskochil, D., Dallapiccola, B., Gleeson, J. G. & Valente, E. M., 1 Aug 2008, In : Clinical Genetics. 74, 2, p. 164-170 7 p.

Research output: Contribution to journalArticle

43 Citations (Scopus)

Spinocerebellar ataxia type 2 (SCA2) in an Egyptian family presenting with polyphagia and marked CAG expansion in infancy

Abdel-Aleem, A. & Zaki, M. S., 1 Mar 2008, In : Journal of Neurology. 255, 3, p. 413-419 7 p.

Research output: Contribution to journalArticle

20 Citations (Scopus)

The molar tooth sign: A new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families

Zaki, M. S., Abdel-Aleem, A., Abdel-Salam, G., Marsh, S. E., Silhavy, J. L., Barkovich, A. J., Ross, M. E., Saleem, S. N., Dobyns, W. B. & Gleeson, J. G., Feb 2008, In : Neurology. 70, 7, p. 556-565 10 p.

Research output: Contribution to journalReview article

30 Citations (Scopus)
2007

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Brancati, F., Barrano, G., Silhavy, J. L., Marsh, S. E., Travaglini, L., Bielas, S. L., Amorini, M., Zablocka, D., Kayserili, H., Al-Gazali, L., Bertini, E., Boltshauser, E., D'Hooghe, M., Fazzi, E., Fenerci, E. Y., Hennekam, R. C. M., Kiss, A., Lees, M. M., Marco, E., Phadke, S. R. & 114 others, Rigoli, L., Romano, S., Salpietro, C. D., Sherr, E. H., Signorini, S., Stromme, P., Stuart, B., Sztriha, L., Viskochil, D. H., Yuksel, A., Dallapiccola, B., Valente, E. M., Gleeson, J. G., Grattan-Smith, P., Leventer, R., Janecke, A., Van Coster, R., Dias, K., Moco, C., Moreira, A., Chong, A. K., Maegawa, G., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., De Lonlay, P., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Philippi, H., Tzeli, S. K., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Fischetto, R., Gentile, M., Battaglia, S., Giordano, L., Boccone, L., Ruggieri, M., Bigoni, S., Ferlini, A., Donati, M. A., Procopio, E., Caridi, G., Faravelli, F., Ghiggeri, G., Briuglia, S., Tortorella, G., D'Arrigo, S., Pantaleoni, C., Riva, D., Uziel, G., Lavercla, A. M., Permunian, A., Bova, S., Battini, R., Cilio, M. R., Di Sabato, M., Emma, F., Leuzzi, V., Parisi, P., Simonati, A., Al-Tawari, A. A., Bastaki, L., Aqeel, A., De Jong, M. M., Koul, R., Rajab, A., Azam, M., Barbot, C., Rodriguez, B., Pascual-Castroviejo, I., Comu, S., Akcakus, M., Nicholl, D., Woods, C. G., Bennett, C., Hurst, J., Walsh, C. A., Bernes, S., Sanchez, H., Clark, A. E., Donahue, C., Hahn, J., Sanger, T. D., Gallager, T. E., Dobyns, W. B., Daugherty, C., Krishnamoorthy, K. S., Sarco, D., McKanna, T., Milisa, J., Chung, W. K., De Vivo, D. C., Raynes, H., Schubert, R., Seward, A., Brooks, D. G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B. L., Holden, K., Cruse, R. P. & Swoboda, K. J., Jul 2007, In : American Journal of Human Genetics. 81, 1, p. 104-113 10 p.

Research output: Contribution to journalArticle

90 Citations (Scopus)

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation

Zaki, M., Shehab, M., Abd El-Aleem, A., Abdel-Salam, G., Koeller, H. B., Ilkin, Y., Ross, M. E., Dobyns, W. B. & Gleeson, J. G., 1 May 2007, In : American Journal of Medical Genetics, Part A. 143, 9, p. 939-944 6 p.

Research output: Contribution to journalArticle

54 Citations (Scopus)
2006

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

Valente, E. M., Brancati, F., Silhavy, J. L., Castori, M., Marsh, S. E., Barrano, G., Bertini, E., Boltshauser, E., Zaki, M. S., Abdel-Aleem, A., Abdel-Salam, G. M. H., Bellacchio, E., Battini, R., Cruse, R. P., Dobyns, W. B., Krishnamoorthy, K. S., Lagier-Tourenne, C., Magee, A., Pascual-Castroviejo, I., Salpietro, C. D. & 3 others, Sarco, D., Dallapiccola, B. & Gleeson, J. G., 1 Mar 2006, In : Annals of Neurology. 59, 3, p. 527-534 8 p.

Research output: Contribution to journalArticle

97 Citations (Scopus)
2002

Repeat contraction in fragile X syndrome: Timing of (CGG)n trinucleotide repeat's transition

Abd El-Aleem, A., Stuhrmann, M., Friedl, W., Zerres, K. & Schmidtke, J., 1 Aug 2002, In : Emirates Medical Journal. 20, 2, p. 189-194 6 p.

Research output: Contribution to journalArticle

1999

Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.

El-Aleem, A. A., Karck, M., Haverich, A., Schmidtke, J. & Arslan-Kirchner, M., 19 Aug 1999, In : Human mutation. 14, 2, 1 p.

Research output: Contribution to journalArticle

10 Citations (Scopus)
1995

Direct molecular analysis of the fragile X syndrome in a sample of Egyptian and German patients using non-radioactive PCR and Southern blot followed by chemiluminescent detection

El-Aleem, A. A., Böhm, I., Temtamy, S., El-Awady, M., Awadalla, M., Schmidtke, J. & Stuhrmann, M., 1 Nov 1995, In : Human Genetics. 96, 5, p. 577-584 8 p.

Research output: Contribution to journalArticle

18 Citations (Scopus)