The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population
Khalaf, Tamam, Al Ojaimi, Mode, Saleh, Dina Amin, Sulaiman, Alena, Sohal, Aman P., Khan, Arif, El‐Hattab, Ayman W.
Published in Clinical genetics (01.07.2024)
Published in Clinical genetics (01.07.2024)
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Journal Article
Disorders of histone methylation: Molecular basis and clinical syndromes
Al Ojaimi, Mode, Banimortada, Bashar J., Othman, Amna, Riedhammer, Korbinian M., Almannai, Mohammed, El‐Hattab, Ayman W.
Published in Clinical genetics (01.09.2022)
Published in Clinical genetics (01.09.2022)
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Journal Article
WIPI proteins: Biological functions and related syndromes
Almannai, Mohammed, Marafi, Dana, El-Hattab, Ayman W.
Published in Frontiers in molecular neuroscience (09.09.2022)
Published in Frontiers in molecular neuroscience (09.09.2022)
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Journal Article
LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome
Chan, Tin K., Alkaabi, Mohammed K., ElBarky, Ahmed M., El‐Hattab, Ayman W.
Published in Clinical genetics (01.02.2019)
Published in Clinical genetics (01.02.2019)
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Journal Article
MPV17‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects
El‐Hattab, Ayman W., Wang, Julia, Dai, Hongzheng, Almannai, Mohammed, Staufner, Christian, Alfadhel, Majid, Gambello, Michael J., Prasun, Pankaj, Raza, Saleem, Lyons, Hernando J., Afqi, Manal, Saleh, Mohammed A. M., Faqeih, Eissa A., Alzaidan, Hamad I., Alshenqiti, Abduljabbar, Flore, Leigh Anne, Hertecant, Jozef, Sacharow, Stephanie, Barbouth, Deborah S., Murayama, Kei, Shah, Amit A., Lin, Henry C., Wong, Lee‐Jun C.
Published in Human mutation (01.04.2018)
Published in Human mutation (01.04.2018)
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Journal Article
Mitochondrial DNA replication: clinical syndromes
Almannai, Mohammed, El-Hattab, Ayman W, Scaglia, Fernando
Published in Essays in biochemistry (20.07.2018)
Published in Essays in biochemistry (20.07.2018)
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Journal Article
Expanding the phenotype of PPP1R21‐related neurodevelopmental disorder
Almannai, Mohammed, Marafi, Dana, Zaki, Maha S., Maroofian, Reza, Efthymiou, Stephanie, Saadi, Nebal Waill, Filimban, Bilal, Dafsari, Hormos Salimi, Rahman, Fatima, Maqbool, Shazia, Faqeih, Eissa, Al Mutairi, Fuad, Alsharhan, Hind, Abdelaty, Omar, Bin‐Hasan, Saadoun, Duan, Ruizhi, Noureldeen, Mahmoud M., Alqattan, Alaa, Houlden, Henry, Hunter, Jill V., Posey, Jennifer E., Lupski, James R., El‐Hattab, Ayman W.
Published in Clinical genetics (01.06.2024)
Published in Clinical genetics (01.06.2024)
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Journal Article
A homozygous frame‐shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features
Salah, Azza, Almannai, Mohammed, Al Ojaimi, Mode, Radefeldt, Mandy, Gulati, Nishtha, Iqbal, Maria, Alawbathani, Salem, Al‐Ali, Ruslan, Beetz, Christian, El‐Hattab, Ayman W.
Published in Clinical genetics (01.05.2022)
Published in Clinical genetics (01.05.2022)
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Journal Article
El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype
Almannai, Mohammed, Marafi, Dana, Abdel‐Salam, Ghada M. H., Zaki, Maha S., Duan, Ruizhi, Calame, Daniel, Herman, Isabella, Levesque, Felix, Elbendary, Hasnaa M., Hegazy, Ibrahim, Chung, Wendy K., Kavus, Haluk, Saeidi, Kolsoum, Maroofian, Reza, AlHashim, Aqeela, Al‐Otaibi, Ali, Al Madhi, Asma, Abou Al‐Seood, Hager M., Alasmari, Ali, Houlden, Henry, Gleeson, Joseph G., Hunter, Jill V., Posey, Jennifer E., Lupski, James R., El‐Hattab, Ayman W.
Published in Clinical genetics (01.05.2022)
Published in Clinical genetics (01.05.2022)
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Journal Article
On the phenotypic spectrum of serine biosynthesis defects
El-Hattab, Ayman W., Shaheen, Ranad, Hertecant, Jozef, Galadari, Hassan I., Albaqawi, Badi S., Nabil, Amira, Alkuraya, Fowzan S.
Published in Journal of inherited metabolic disease (01.05.2016)
Published in Journal of inherited metabolic disease (01.05.2016)
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Journal Article
VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features
Beetz, Christian, Ameziane, Najim, Kdissa, Ameni, Karageorgou, Vasiliki, Bauer, Peter, Suleiman, Jehan, Sutton, V. Reid, El‐Hattab, Ayman W.
Published in Clinical genetics (01.04.2020)
Published in Clinical genetics (01.04.2020)
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Journal Article
Int22h1/Int22h2‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features
Ballout, Rami A., Dickerson, Cheryl, Wick, Myra J., Al‐Sweel, Najla, Openshaw, Amanda S., Srivastava, Siddharth, Swanson, Lindsay C., Bramswig, Nuria C., Kuechler, Alma, Hong, Bo, Fleming, Leah R., Curry, Kathryn, Robertson, Stephen P., Andersen, Erica F., El‐Hattab, Ayman W.
Published in Human mutation (01.07.2020)
Published in Human mutation (01.07.2020)
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Journal Article
Homozygous loss‐of‐function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies
Suleiman, Jehan, Riedhammer, Korbinian M., Jicinsky, Timothy, Mundt, Melinda, Werner, Laurie, Gusic, Mirjana, Burgemeister, Anna L., Alsaif, Hessa S., Abdulrahim, Maha, Moghrabi, Nabil N, Nicolas‐Jilwan, Manal, AlSayed, Moeenaldeen, Bi, Weimin, Sampath, Srirangan, Alkuraya, Fowzan S., El‐Hattab, Ayman W.
Published in Human mutation (01.11.2019)
Published in Human mutation (01.11.2019)
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Journal Article
Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy
Chong, Shuk Ching, Cao, Ye, Fung, Eva L. W., Kleppe, Soledad, Gripp, Karen W., Hertecant, Jozef, El‐Hattab, Ayman W., Suleiman, Jehan, Clark, Gary, Allmen, Gretchen, Rodziyevska, Olga, Lewis, Richard A., Rosenfeld, Jill A., Dong, Jie, Wang, Xia, Miller, Marcus J., Bi, Weimin, Liu, Pengfei, Scaglia, Fernando
Published in American journal of medical genetics. Part A (01.03.2023)
Published in American journal of medical genetics. Part A (01.03.2023)
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Journal Article
Carnitine Inborn Errors of Metabolism
Almannai, Mohammed, Alfadhel, Majid, El-Hattab, Ayman W
Published in Molecules (Basel, Switzerland) (06.09.2019)
Published in Molecules (Basel, Switzerland) (06.09.2019)
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Journal Article
Mitochondrial dynamics: Biological roles, molecular machinery, and related diseases
El-Hattab, Ayman W., Suleiman, Jehan, Almannai, Mohammed, Scaglia, Fernando
Published in Molecular genetics and metabolism (01.12.2018)
Published in Molecular genetics and metabolism (01.12.2018)
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Journal Article
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options
El-Hattab, Ayman W., Adesina, Adekunle M., Jones, Jeremy, Scaglia, Fernando
Published in Molecular genetics and metabolism (01.09.2015)
Published in Molecular genetics and metabolism (01.09.2015)
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Journal Article