Spectrum of neuro‐genetic disorders in the United Arab Emirates national population
Saleh, Sirine, Beyyumi, Ela, Al Kaabi, Aysha, Hertecant, Jozef, Barakat, Doaa, Al Dhaheri, Noura S., Al‐Gazali, Lihadh, Al Shamsi, Aisha
Published in Clinical genetics (01.11.2021)
Published in Clinical genetics (01.11.2021)
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Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function
Rehman, Atteeq U., Najafi, Maryam, Kambouris, Marios, Al‐Gazali, Lihadh, Makrythanasis, Periklis, Rad, Abolfazl, Maroofian, Reza, Rajab, Anna, Stark, Zornitza, Hunter, Jill V., Bakey, Zeineb, Tokita, Mari J., He, Weimin, Vetrini, Francesco, Petersen, Andrea, Santoni, Federico A., Hamamy, Hanan, Wu, Kaman, Al‐Jasmi, Fatma, Helmstädter, Martin, Arnold, Sebastian J., Xia, Fan, Richmond, Christopher, Liu, Pengfei, Karimiani, Ehsan Ghayoor, Karami Madani, GholamReza, Lunke, Sebastian, El‐Shanti, Hatem, Eng, Christine M., Antonarakis, Stylianos E., Hertecant, Jozef, Walkiewicz, Magdalena, Yang, Yaping, Schmidts, Miriam
Published in Human mutation (01.03.2019)
Published in Human mutation (01.03.2019)
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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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TECRL, a new life‐threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT
Devalla, Harsha D, Gélinas, Roselle, Aburawi, Elhadi H, Beqqali, Abdelaziz, Goyette, Philippe, Freund, Christian, Chaix, Marie‐A, Tadros, Rafik, Jiang, Hui, Le Béchec, Antony, Monshouwer‐Kloots, Jantine J, Zwetsloot, Tom, Kosmidis, Georgios, Latour, Frédéric, Alikashani, Azadeh, Hoekstra, Maaike, Schlaepfer, Jurg, Mummery, Christine L, Stevenson, Brian, Kutalik, Zoltan, Vries, Antoine AF, Rivard, Léna, Wilde, Arthur AM, Talajic, Mario, Verkerk, Arie O, Al‐Gazali, Lihadh, Rioux, John D, Bhuiyan, Zahurul A, Passier, Robert
Published in EMBO molecular medicine (01.12.2016)
Published in EMBO molecular medicine (01.12.2016)
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PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features
Khalil, Raida, Kenny, Connor, Hill, R. Sean, Mochida, Ganeshwaran H., Nasir, Ramzi, Partlow, Jennifer N., Barry, Brenda J., Al‐Saffar, Muna, Egan, Chloe, Stevens, Christine R., Gabriel, Stacey B., Barkovich, A. James, Ellison, Jay W., Al‐Gazali, Lihadh, Walsh, Christopher A., Chahrour, Maria H.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.12.2018)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.12.2018)
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Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families
Makrythanasis, Periklis, Nelis, Mari, Santoni, Federico A., Guipponi, Michel, Vannier, Anne, Béna, Frédérique, Gimelli, Stefania, Stathaki, Elisavet, Temtamy, Samia, Mégarbané, André, Masri, Amira, Aglan, Mona S., Zaki, Maha S., Bottani, Armand, Fokstuen, Siv, Gwanmesia, Lorraine, Aliferis, Konstantinos, Bustamante Eduardo, Mariana, Stamoulis, Georgios, Psoni, Stavroula, Kitsiou-Tzeli, Sofia, Fryssira, Helen, Kanavakis, Emmanouil, Al-Allawi, Nasir, Sefiani, Abdelaziz, Al Hait, Sana', Elalaoui, Siham C., Jalkh, Nadine, Al-Gazali, Lihadh, Al-Jasmi, Fatma, Bouhamed, Habiba Chaabouni, Abdalla, Ebtesam, Cooper, David N., Hamamy, Hanan, Antonarakis, Stylianos E.
Published in Human mutation (01.10.2014)
Published in Human mutation (01.10.2014)
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Mutations in LRP2 , which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
Noonan, Kristin M, MacLaughlin, David T, Loscertales, Maria, Robson, Caroline, Walsh, Christopher A, Al-Gazali, Lihadh, Hill, R Sean, Donnai, Dian, Russell, Meaghan K, Bieth, Eric, Devriendt, Koen, Liu, Tianming, Chassaing, Nicolas, Teebi, Ahmad, Pober, Barbara R, Black, Graeme C M, Lacombe, Didier, Donahoe, Patricia K, Kantarci, Sibel
Published in Nature genetics (01.08.2007)
Published in Nature genetics (01.08.2007)
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DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract
Blackburn, Alexandria T M, Bekheirnia, Nasim, Uma, Vanessa C, Corkins, Mark E, Xu, Yuxiao, Rosenfeld, Jill A, Bainbridge, Matthew N, Yang, Yaping, Liu, Pengfei, Madan-Khetarpal, Suneeta, Delgado, Mauricio R, Hudgins, Louanne, Krantz, Ian, Rodriguez-Buritica, David, Wheeler, Patricia G, Al-Gazali, Lihadh, Mohamed Saeed Mohamed Al Shamsi, Aisha, Gomez-Ospina, Natalia, Chao, Hsiao-Tuan, Mirzaa, Ghayda M, Scheuerle, Angela E, Kukolich, Mary K, Scaglia, Fernando, Eng, Christine, Willsey, Helen Rankin, Braun, Michael C, Lamb, Dolores J, Miller, Rachel K, Bekheirnia, Mir Reza
Published in Genetics in medicine (01.12.2019)
Published in Genetics in medicine (01.12.2019)
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A recessive truncating variant in thrombospondin‐1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family
Abdelrahman, Hanadi A., Al‐Shamsi, Aisha, John, Anne, Hertecant, Jozef, Lootah, Ali, Ali, Bassam R., Al‐Gazali, Lihadh
Published in American journal of medical genetics. Part A (01.09.2018)
Published in American journal of medical genetics. Part A (01.09.2018)
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Journal Article
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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Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia
Below, Jennifer E., Earl, Dawn L., Shively, Kathryn M., McMillin, Margaret J., Smith, Joshua D., Turner, Emily H., Stephan, Mark J., Al-Gazali, Lihadh I., Hertecant, Jozef L., Chitayat, David, Unger, Sheila, Cohn, Daniel H., Krakow, Deborah, Swanson, James M., Faustman, Elaine M., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.
Published in American journal of human genetics (10.01.2013)
Published in American journal of human genetics (10.01.2013)
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A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome
Cuvertino Sara, Hartill Verity, Colyer, Alice, Garner, Terence, Nair, Nisha, Al-Gazali Lihadh, Canham, Natalie, Faundes Victor, Flinter Frances, Hertecant Jozef, Holder-Espinasse Muriel, Jackson, Brian, Lynch, Sally Ann, Nadat Fatima, Narasimhan, Vagheesh M, Peckham, Michelle, Sellers, Robert, Seri, Marco, Montanari, Francesca, Southgate, Laura, Squeo, Gabriella Maria, Trembath, Richard, van Heel David, Venuto Santina, Weisberg, Daniel, Stals, Karen, Ellard Sian, Barton, Anne, Kimber, Susan J, Sheridan, Eamonn, Merla Giuseppe, Stevens, Adam, Johnson, Colin A, Banka Siddharth
Published in Genetics in medicine (01.05.2020)
Published in Genetics in medicine (01.05.2020)
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Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis
Nizon, Mathilde, Huber, Céline, De Leonardis, Fabio, Merrina, Rodolphe, Forlino, Antonella, Fradin, Mélanie, Tuysuz, Beyhan, Abu-Libdeh, Bassam Y., Alanay, Yasemin, Albrecht, Beate, Al-Gazali, Lihadh, Basaran, Sarenur Yilmaz, Clayton-Smith, Jill, Désir, Julie, Gill, Harinder, Greally, Marie T., Koparir, Erkan, van Maarle, Merel C, MacKay, Sara, Mortier, Geert, Morton, Jenny, Sillence, David, Vilain, Catheline, Young, Ian, Zerres, Klaus, Le Merrer, Martine, Munnich, Arnold, Le Goff, Carine, Rossi, Antonio, Cormier-Daire, Valérie
Published in Human mutation (01.08.2012)
Published in Human mutation (01.08.2012)
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Clinical and Molecular Analysis of a Novel COLQ Missense Mutation Causing Congenital Myasthenic Syndrome in a Syrian Family
Matlik, Hussein N., MD, Milhem, Reham M., MSc, Saadeldin, Imad Y., MD, Al-Jaibeji, Hayat S., BSc, Al-Gazali, Lihadh, MD, Ali, Bassam R., PhD
Published in Pediatric neurology (01.07.2014)
Published in Pediatric neurology (01.07.2014)
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Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features
Russell, Bianca E., Rigueur, Diana, Weaver, Kathryn N., Sund, Kristen, Basil, Janet S., Hufnagel, Robert B., Prows, Cynthia A., Oestreich, Alan, Al‐Gazali, Lihadh, Hopkin, Robert J, Saal, Howard M., Lyons, Karen, Dauber, Andrew
Published in Molecular genetics & genomic medicine (01.11.2019)
Published in Molecular genetics & genomic medicine (01.11.2019)
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Journal Article
Distinguishing the four genetic causes of jouberts syndrome-related disorders
Valente, Enza Maria, Marsh, Sarah E., Castori, Marco, Dixon-Salazar, Tracy, Bertini, Enrico, Al-Gazali, Lihadh, Messer, Jean, Barbot, Clara, Woods, C. Geoffrey, Boltshauser, Eugen, Al-Tawari, Asma A., Salpietro, Carmelo D., Kayserili, Hulya, Sztriha, László, Gribaa, Moez, Koenig, Michel, Dallapiccola, Bruno, Gleeson, Joseph G.
Published in Annals of neurology (01.04.2005)
Published in Annals of neurology (01.04.2005)
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FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome
Alazami, Anas M., Shaheen, Ranad, Alzahrani, Fatema, Snape, Katie, Saggar, Anand, Brinkmann, Bernd, Bavi, Prashant, Al-Gazali, Lihadh I., Alkuraya, Fowzan S.
Published in American journal of human genetics (01.09.2009)
Published in American journal of human genetics (01.09.2009)
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