Bi‐allelic null variant in matrix metalloproteinase‐15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive
Abdelrahman, Hanadi A., Akawi, Nadia, Al‐Shamsi, Aisha M., Ali, Amanat, Al‐Jasmi, Fatma, John, Anne, Hertecant, Jozef, Al‐Gazali, Lihadh, Ali, Bassam R.
Published in Clinical genetics (01.04.2022)
Published in Clinical genetics (01.04.2022)
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A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss
Gariballa, Nesrin, Ben‐Mahmoud, Afif, Komara, Makanko, Al‐Shamsi, Aisha M., John, Anne, Ali, Bassam R., Al‐Gazali, Lihadh
Published in American journal of medical genetics. Part A (01.05.2017)
Published in American journal of medical genetics. Part A (01.05.2017)
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Journal Article
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features
Zhang, Jing, Gambin, Tomasz, Yuan, Bo, Szafranski, Przemyslaw, Rosenfeld, Jill A., Balwi, Mohammed Al, Alswaid, Abdulrahman, Al-Gazali, Lihadh, Shamsi, Aisha M. Al, Komara, Makanko, Ali, Bassam R., Roeder, Elizabeth, McAuley, Laura, Roy, Daniel S., Manchester, David K., Magoulas, Pilar, King, Lauren E., Hannig, Vickie, Bonneau, Dominique, Denommé-Pichon, Anne-Sophie, Charif, Majida, Besnard, Thomas, Bézieau, Stéphane, Cogné, Benjamin, Andrieux, Joris, Zhu, Wenmiao, He, Weimin, Vetrini, Francesco, Ward, Patricia A., Cheung, Sau Wai, Bi, Weimin, Eng, Christine M., Lupski, James R., Yang, Yaping, Patel, Ankita, Lalani, Seema R., Xia, Fan, Stankiewicz, Paweł
Published in Human genetics (01.04.2017)
Published in Human genetics (01.04.2017)
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Journal Article
Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay
Ben-Salem, Salma, Gleeson, Joseph G., Al-Shamsi, Aisha M., Islam, Barira, Hertecant, Jozef, Ali, Bassam R., Al-Gazali, Lihadh
Published in Metabolic brain disease (01.06.2015)
Published in Metabolic brain disease (01.06.2015)
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Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus
Al-Jezawi, Nesreen K, Al-Shamsi, Aisha M, Suleiman, Jehan, Ben-Salem, Salma, John, Anne, Vijayan, Ranjit, Ali, Bassam R, Al-Gazali, Lihadh
Published in BMC medical genetics (02.03.2018)
Published in BMC medical genetics (02.03.2018)
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Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings
Ben-Salem, Salma, Sobreira, Nara, Akawi, Nadia A., Al-Shamsi, Aisha M., John, Anne, Pramathan, Thachillath, Valle, David, Ali, Bassam R., Al-Gazali, Lihadh
Published in American journal of medical genetics. Part A (01.01.2016)
Published in American journal of medical genetics. Part A (01.01.2016)
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Journal Article
New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation
Ben-Salem, Salma, Nara, Sobreira, Al-Shamsi, Aisha M., Valle, David, Ali, Bassam R., Al-Gazali, Lihadh
Published in Journal of dermatology (01.08.2015)
Published in Journal of dermatology (01.08.2015)
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Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features
Zhang, Jing, Gambin, Tomasz, Yuan, Bo, Szafranski, Przemyslaw, Rosenfeld, Jill A., Balwi, Mohammed Al, Alswaid, Abdulrahman, Al-Gazali, Lihadh, Shamsi, Aisha M. Al, Komara, Makanko, Ali, Bassam R., Roeder, Elizabeth, McAuley, Laura, Roy, Daniel S., Manchester, David K., Magoulas, Pilar, King, Lauren E., Hannig, Vickie, Bonneau, Dominique, Denommé-Pichon, Anne-Sophie, Charif, Majida, Besnard, Thomas, Bézieau, Stéphane, Cogné, Benjamin, Andrieux, Joris, Zhu, Wenmiao, He, Weimin, Vetrini, Francesco, Ward, Patricia A., Cheung, Sau Wai, Bi, Weimin, Eng, Christine M., Lupski, James R., Yang, Yaping, Patel, Ankita, Lalani, Seema R., Xia, Fan, Stankiewicz, Paweł
Published in Human genetics (01.08.2017)
Published in Human genetics (01.08.2017)
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Journal Article
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates
Ben-Salem, Salma, Hertecant, Jozef, Al-Shamsi, Aisha M, Ali, Bassam R, Al-Gazali, Lihadh
Published in Birth defects research. A Clinical and molecular teratology (01.12.2013)
Published in Birth defects research. A Clinical and molecular teratology (01.12.2013)
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Journal Article
Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities
Ben-Mahmoud, Afif, Al-Shamsi, Aisha M., Ali, Bassam R., Al-Gazali, Lihadh
Published in Journal of molecular neuroscience (01.03.2020)
Published in Journal of molecular neuroscience (01.03.2020)
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Journal Article
Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability
Al-Shamsi, Aisha M., Ben-Salem, Salma, Hertecant, Jozef, Al-Jasmi, Fatma
Published in European journal of pediatrics (01.05.2015)
Published in European journal of pediatrics (01.05.2015)
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Journal Article
Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy
Ben-Salem, Salma, Robbins, Sarah M, LM Sobreira, Nara, Lyon, Angeline, Al-Shamsi, Aisha M, Islam, Barira K, Akawi, Nadia A, John, Anne, Thachillath, Pramathan, Al Hamed, Sania, Valle, David, Ali, Bassam R, Al-Gazali, Lihadh
Published in Journal of medical genetics (01.02.2018)
Published in Journal of medical genetics (01.02.2018)
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Journal Article
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3
Iruzubieta, Pablo, Alves, César Augusto Pinheiro Ferreira, Al Shamsi, Aisha M., ElGhazali, Gehad, Zaki, Maha S., Pinelli, Lorenzo, Lopergolo, Diego, Cho, Bernard P.H., Jolly, Amy A., Al Futaisi, Amna, Al-Amrani, Fatema, Galli, Jessica, Fazzi, Elisa, Vulin, Katarina, Barajas-Olmos, Francisco, Hengel, Holger, Aljamal, Bayan Mohammed, Nasr, Vahideh, Assarzadegan, Farhad, Ragno, Michele, Trojano, Luigi, Ojeda, Naomi Meave, Çakar, Arman, Bianchi, Silvia, Pescini, Francesca, Poggesi, Anna, Al Tenalji, Amal, Aziz, Majid, Mohammad, Rahema, Chedrawi, Aziza, De Stefano, Nicola, Zifarelli, Giovanni, Schöls, Ludger, Haack, Tobias B., Rebelo, Adriana, Zuchner, Stephan, Koc, Filiz, Griffiths, Lyn R., Orozco, Lorena, Helmes, Karla García, Babaei, Meisam, Bauer, Peter, Chan Jeong, Won, Karimiani, Ehsan Ghayoor, Schmidts, Miriam, Gleeson, Joseph G., Chung, Wendy K., Alkuraya, Fowzan Sami, Shalbafan, Bita, Markus, Hugh S., Houlden, Henry, Maroofian, Reza
Published in EBioMedicine (01.09.2024)
Published in EBioMedicine (01.09.2024)
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Journal Article
LINS, a modulator of the WNT signaling pathway, is involved in human cognition
Akawi, Nadia A, Al-Jasmi, Fatma, Al-Shamsi, Aisha M, Ali, Bassam R, Al-Gazali, Lihadh
Published in Orphanet journal of rare diseases (17.06.2013)
Published in Orphanet journal of rare diseases (17.06.2013)
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Journal Article
The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE
Ben-Salem, Salma, Al-Shamsi, Aisha M., Ali, Bassam R., Al-Gazali, Lihadh
Published in Child's nervous system (01.07.2014)
Published in Child's nervous system (01.07.2014)
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Journal Article
Mutation spectrum of Joubert syndrome and related disorders among Arabs
Ben-Salem, Salma, Al-Shamsi, Aisha M, Gleeson, Joseph G, Ali, Bassam R, Al-Gazali, Lihadh
Published in Human genome variation (06.11.2014)
Published in Human genome variation (06.11.2014)
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