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6 results for Al-Saffar,+Muna

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ArticlesPeer ReviewedFull Text
Genomic and phenotypic delineation of congenital microcephaly
Author / Creator:Shaheen, Ranad ; Maddirevula, Sateesh ; Ewida, Nour ; Alsahli, Saud ; Abdel-Salam, Ghada M. H. ; Zaki, Maha S. ; Tala, Saeed Al ; Alhashem, Amal ; Softah, Ameen ; Al-Owain, Mohammed ; Alazami, Anas M. ; Abadel, Basma ; Patel, Nisha ; Al-Sheddi, Tarfa ; Alomar, Rana ; Alobeid, Eman ; Ibrahim, Niema ; Hashem, Mais ; Abdulwahab, Firdous ; Hamad, Muddathir ; Tabarki, Brahim ; Alwadei, Ali H. ; Alhazzani, Fahad ; Bashiri, Fahad A. ; Kentab, Amal ; Şahintürk, Serdar ; Sherr, Elliott ; Fregeau, Brieana ; Sogati, Samira ; Alshahwan, Saad Ali M. ; Alkhalifi, Salwa ; Alhumaidi, Zainab ; Temtamy, Samia ; Aglan, Mona ; Otaify, Ghada ; Girisha, Katta M. ; Tulbah, Maha ; Seidahmed, Mohammed Zain ; Salih, Mustafa A. ; Abouelhoda, Mohamed ; Momin, Afaque A. ; Saffar, Muna Al ; Partlow, Jennifer N. ; Arold, Stefan T. ; Faqeih, Eissa ; Walsh, Christopher ; Alkuraya, Fowzan S.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-03, Vol.21 (3), p.545-552
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Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
Author / Creator:Yu, Timothy W. ; Chahrour, Maria H. ; Coulter, Michael E. ; Jiralerspong, Sarn ; Okamura-Ikeda, Kazuko ; Ataman, Bulent ; Schmitz-Abe, Klaus ; Harmin, David A. ; Adli, Mazhar ; Malik, Athar N. ; D’Gama, Alissa M. ; Lim, Elaine T. ; Sanders, Stephan J. ; Mochida, Ganesh H. ; Partlow, Jennifer N. ; Sunu, Christine M. ; Felie, Jillian M. ; Rodriguez, Jacqueline ; Nasir, Ramzi H. ; Ware, Janice ; Joseph, Robert M. ; Hill, R. Sean ; Kwan, Benjamin Y. ; Al-Saffar, Muna ; Mukaddes, Nahit M. ; Hashmi, Asif ; Balkhy, Soher ; Gascon, Generoso G. ; Hisama, Fuki M. ; LeClair, Elaine ; Poduri, Annapurna ; Oner, Ozgur ; Al-Saad, Samira ; Al-Awadi, Sadika A. ; Bastaki, Laila ; Ben-Omran, Tawfeg ; Teebi, Ahmad S. ; Al-Gazali, Lihadh ; Eapen, Valsamma ; Stevens, Christine R. ; Rappaport, Leonard ; Gabriel, Stacey B. ; Markianos, Kyriacos ; State, Matthew W. ; Greenberg, Michael E. ; Taniguchi, Hisaaki ; Braverman, Nancy E. ; Morrow, Eric M. ; Walsh, Christopher A.
Publisher:United States: Elsevier Inc
Journal title:Neuron (Cambridge, Mass.), 2013-01, Vol.77 (2), p.259-273
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Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability
Author / Creator:Haag, Natja ; Tan, Ene-Choo ; Begemann, Matthias ; Buschmann, Lars ; Kraft, Florian ; Holschbach, Petra ; Lai, Angeline H. M. ; Brett, Maggie ; Mochida, Ganeshwaran H. ; DiTroia, Stephanie ; Pais, Lynn ; Neil, Jennifer E. ; Al-Saffar, Muna ; Bastaki, Laila ; Walsh, Christopher A. ; Kurth, Ingo ; Knopp, Cordula
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-11, Vol.29 (11), p.1663-1668
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Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features
Author / Creator:Ouyang, Qing ; Nakayama, Tojo ; Baytas, Ozan ; Davidson, Shawn M. ; Yang, Chendong ; Schmidt, Michael ; Lizarraga, Sofia B. ; Mishra, Sasmita ; EI-Quessny, Malak ; Niaz, Saima ; Butt, Mirrat Gul ; Murtaza, Syed Imran ; Javed, Afzal ; Chaudhry, Haroon Rashid ; Vaughan, Dylan J. ; Hill, R. Sean ; Partlow, Jennifer N. ; Yoo, Seung-Yun ; Lam, Anh-Thu N. ; Nasir, Ramzi ; Al-Saffar, Muna ; Barkovich, A. James ; Schwede, Matthew ; Nagpal, Shailender ; Rajab, Anna ; DeBerardinis, Ralph J. ; Housman, David E. ; Mochida, Ganeshwaran H. ; Morrow, Eric M.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2016-09, Vol.113 (38), p.E5598-E5607
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A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features
Author / Creator:Shao, Diane D. ; Straussberg, Rachel ; Ahmed, Hind ; Khan, Amjad ; Tian, Songhai ; Hill, R. Sean ; Smith, Richard S. ; Majmundar, Amar J. ; Ameziane, Najim ; Neil, Jennifer E. ; Yang, Edward ; Al Tenaiji, Amal ; Jamuar, Saumya S. ; Schlaeger, Thorsten M. ; Al-Saffar, Muna ; Hovel, Iris ; Al-Shamsi, Aisha ; Basel-Salmon, Lina ; Amir, Achiya Z. ; Rento, Lariza M. ; Lim, Jiin Ying ; Ganesan, Indra ; Shril, Shirlee ; Evrony, Gilad ; Barkovich, A. James ; Bauer, Peter ; Hildebrandt, Friedhelm ; Dong, Min ; Borck, Guntram ; Beetz, Christian ; Al-Gazali, Lihadh ; Eyaid, Wafaa ; Walsh, Christopher A.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-06, Vol.23 (6), p.1158-1162
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Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival
Author / Creator:Coulter, Michael E. ; Musaev, Damir ; DeGennaro, Ellen M. ; Zhang, Xiaochang ; Henke, Katrin ; James, Kiely N. ; Smith, Richard S. ; Hill, R. Sean ; Partlow, Jennifer N. ; Muna Al-Saffar ; Kamumbu, A. Stacy ; Hatem, Nicole ; Barkovich, A. James ; Aziza, Jacqueline ; Chassaing, Nicolas ; Zaki, Maha S. ; Sultan, Tipu ; Burglen, Lydie ; Rajab, Anna ; Al-Gazali, Lihadh ; Mochida, Ganeshwaran H. ; Harris, Matthew P. ; Gleeson, Joseph G. ; Walsh, Christopher A.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-06, Vol.22 (6), p.1040-1050
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Genomic and phenotypic delineation of congenital microcephaly

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Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

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Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability

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Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features

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

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Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

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