Ayman W. El-Hattab (Ayman W El-Hattab, A W El-Hattab)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 40

Top Venues

Clinical genetics

Human mutation

American journal of medical genetics. Part A

International journal of environmental research and public health

This page only lists publications with an associated author ORCID identifier.

Publications

Mohammed Almannai, Dana Marafi, Maha Saad Zaki, Reza Maroofian, Stephanie Efthymiou, Nebal Waill Saadi, Bilal Filimban, Hormos Salimi Dafsari, Fatima Rahman, Shazia Maqbool, Eissa Faqeih, Fuad Al Mutairi, Hind Alsharhan, Omar Abdelaty, Saadoun Bin-Hasan, Ruizhi Duan, Mahmoud M Noureldeen, Alaa Alqattan, Henry Houlden, Jill V Hunter, Jennifer E Posey, James R Lupski, Ayman W. El-Hattab
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder. Clinical genetics (2024)
Mohammed Almannai, Dana Marafi, Maha Saad Zaki, Reza Maroofian, Stephanie Efthymiou, Nebal Waill Saadi, Bilal Filimban, Hormos Salimi Dafsari, Fatima Rahman, Shazia Maqbool, Eissa Faqeih, Fuad Al Mutairi, Hind Alsharhan, Omar Abdelaty, Saadoun Bin-Hasan, Ruizhi Duan, Mahmoud M Noureldeen, Alaa Alqattan, Henry Houlden, Jill V Hunter, Jennifer E Posey, James R Lupski, Ayman W. El-Hattab
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder. Clinical genetics 105 (6) (2024)
Mohammed Almannai, Dana Marafi, Maha Saad Zaki, Reza Maroofian, Stephanie Efthymiou, Nebal Waill Saadi, Bilal Filimban, Hormos Salimi Dafsari, Fatima Rahman, Shazia Maqbool, Eissa Faqeih, Fuad Al Mutairi, Hind Alsharhan, Omar Abdelaty, Saadoun Bin-Hasan, Ruizhi Duan, Mahmoud M Noureldeen, Alaa Alqattan, Henry Houlden, Jill V Hunter, Jennifer E Posey, James R Lupski, Ayman W. El-Hattab
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder. Clinical genetics 105 (6) (2024)
Mohammed Almannai, Dana Marafi, Maha Saad Zaki, Reza Maroofian, Stephanie Efthymiou, Nebal Waill Saadi, Bilal Filimban, Hormos Salimi Dafsari, Fatima Rahman, Shazia Maqbool, Eissa Faqeih, Fuad Al Mutairi, Hind Alsharhan, Omar Abdelaty, Saadoun Bin-Hasan, Ruizhi Duan, Mahmoud M Noureldeen, Alaa Alqattan, Henry Houlden, Jill V Hunter, Jennifer E Posey, James R Lupski, Ayman W. El-Hattab
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder. Clinical genetics 105 (6) (2024)
Mohammed Almannai, Dana Marafi, Maha Saad Zaki, Reza Maroofian, Stephanie Efthymiou, Nebal Waill Saadi, Bilal Filimban, Hormos Salimi Dafsari, Fatima Rahman, Shazia Maqbool, Eissa Faqeih, Fuad Al Mutairi, Hind Alsharhan, Omar Abdelaty, Saadoun Bin-Hasan, Ruizhi Duan, Mahmoud M Noureldeen, Alaa Alqattan, Henry Houlden, Jill V Hunter, Jennifer E Posey, James R Lupski, Ayman W. El-Hattab
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder. Clinical genetics 105 (6) (2024)
Ralf A Husain, Xinfu Jiao, J Christopher Hennings, Jan Giesecke, Geeta Palsule, Stefanie Beck-Wödl, Dina Osmanović, Kathrine Bjørgo, Asif Mir, Muhammad Ilyas, Saad M Abbasi, Stephanie Efthymiou, Natalia Dominik, Reza Maroofian, Henry Houlden, Julia Rankin, Alistair T Pagnamenta, Marwan Nashabat, Waleed Altwaijri, Majid Alfadhel, Muhammad Umair, Ebtissal Khouj, William Reardon, Ayman W. El-Hattab, Mohammed Mekki, Gunnar Houge, Christian Beetz, Peter Bauer, Audrey Putoux, Gaetan Lesca, Damien Sanlaville, Fowzan Sami Alkuraya, Robert W Taylor, Hans-Joachim Mentzel, Christian A Hübner, Peter Huppke, Ronald P Hart, Tobias B Haack, Megerditch Kiledjian, Ignacio Rubio
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease. Brain : a journal of neurology 147 (4) (2024)
Mohammed Almannai, Dana Marafi, Maha Saad Zaki, Reza Maroofian, Stephanie Efthymiou, Nebal Waill Saadi, Bilal Filimban, Hormos Salimi Dafsari, Fatima Rahman, Shazia Maqbool, Eissa Faqeih, Fuad Al Mutairi, Hind Alsharhan, Omar Abdelaty, Saadoun Bin-Hasan, Ruizhi Duan, Mahmoud M Noureldeen, Alaa Alqattan, Henry Houlden, Jill V Hunter, Jennifer E Posey, James R Lupski, Ayman W. El-Hattab
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder. Clinical genetics 105 (6) (2024)
Tamam Khalaf, Mode Al Ojaimi, Dina Amin Saleh, Alena Sulaiman, Aman P Sohal, Arif Khan, Ayman W. El-Hattab
The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population. Clinical genetics 106 (1) (2024)
Tamam Khalaf, Mode Al Ojaimi, Dina Amin Saleh, Alena Sulaiman, Aman P Sohal, Arif Khan, Ayman W. El-Hattab
The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population. Clinical genetics (2024)
Howaida Khair, Serene Hilary, Shamsa Al Awar, Kornelia Teresa Zaręba, Sara Maki, Gehan Sayed, Sharon Mutare, Ayman W. El-Hattab, Ali Hussein Al Ibrahim
Perinatal Outcomes in Foetuses with Increased Nuchal Translucency and Normal Karyotype: A Retrospective Cohort Study from the United Arab Emirates. Journal of clinical medicine 12 (19) (2023)
Michael J Xie, Gareth A Cromie, Katherine Owens, Martin S Timour, Michelle Tang, J Nathan Kutz, Ayman W. El-Hattab, Richard N McLaughlin, Aimeé M Dudley
Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes. PLoS genetics 19 (10) (2023)
Takeya Adachi, Ayman W. El-Hattab, Ritu Jain, Katya A Nogales Crespo, Camila I Quirland Lazo, Maurizio Scarpa, Marshall Summar, Duangrurdee Wattanasirichaigoon
Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges. International journal of environmental research and public health 20 (6) (2023)
Takeya Adachi, Ayman W. El-Hattab, Ritu Jain, Katya A Nogales Crespo, Camila I Quirland Lazo, Maurizio Scarpa, Marshall Summar, Duangrurdee Wattanasirichaigoon
Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges. International journal of environmental research and public health 20 (6) (2023)
Takeya Adachi, Ayman W. El-Hattab, Ritu Jain, Katya A Nogales Crespo, Camila I Quirland Lazo, Maurizio Scarpa, Marshall Summar, Duangrurdee Wattanasirichaigoon
Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges. International journal of environmental research and public health 20 (6) (2023)
Mode Al Ojaimi, Azza Salah, Ayman W. El-Hattab
Mitochondrial Fission and Fusion: Molecular Mechanisms, Biological Functions, and Related Disorders. Membranes 12 (9) (2022)
Korbinian Maria Riedhammer, Anna L Burgemeister, Vincent Cantagrel, Jeanne Amiel, Karine Siquier-Pernet, Nathalie Boddaert, Jozef Hertecant, Patricia L Kannouche, Caroline Pouvelle, Stephanie Htun, Anne M Slavotinek, Christian Beetz, Dan Diego-Alvarez, Kapil Kampe, Nicole Fleischer, Zain Awamleh, Rosanna Weksberg, Matthias Elstner, Thomas Meitinger, Jehan Suleiman, Ayman W. El-Hattab
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency. Human molecular genetics 31 (18) (2022)
Mohammed Almannai, Azza Salah, Ayman W. El-Hattab
Mitochondrial Membranes and Mitochondrial Genome: Interactions and Clinical Syndromes. Membranes 12 (6) (2022)
Mode Al Ojaimi, Bashar J Banimortada, Amna Othman, Korbinian Maria Riedhammer, Mohammed Almannai, Ayman W. El-Hattab
Disorders of histone methylation: Molecular basis and clinical syndromes. Clinical genetics 102 (3) (2022)
Mohammed Almannai, Dana Marafi, Ghada M H Abdel-Salam, Maha Saad Zaki, Ruizhi Duan, Daniel Calame, Isabella Herman, Felix Levesque, Hasnaa M Elbendary, Ibrahim Hegazy, Wendy K Chung, Haluk Kavus, Kolsoum Saeidi, Reza Maroofian, Aqeela AlHashim, Ali Al-Otaibi, Asma Al Madhi, Hager M Abou Al-Seood, Ali Alasmari, Henry Houlden, Joseph G Gleeson, Jill V Hunter, Jennifer E Posey, James R Lupski, Ayman W. El-Hattab
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clinical genetics 101 (5-6) (2022)
Josephine Shuk Ching Chong, Ye Cao, Eva L W Fung, Soledad Kleppe, Karen W Gripp, Jozef Hertecant, Ayman W. El-Hattab, Jehan Suleiman, Gary Clark, Gretchen von Allmen, Olga Rodziyevska, Richard Alan Lewis, Jill Anne Rosenfeld, Jie Dong, null null, Xia Wang, Marcus J Miller, Weimin Bi, Pengfei Liu, Fernando Scaglia
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy. American journal of medical genetics. Part A 191 (3) (2022)
Josephine Shuk Ching Chong, Ye Cao, Eva L W Fung, Soledad Kleppe, Karen W Gripp, Jozef Hertecant, Ayman W. El-Hattab, Jehan Suleiman, Gary Clark, Gretchen von Allmen, Olga Rodziyevska, Richard Alan Lewis, Jill Anne Rosenfeld, Jie Dong, null null, Xia Wang, Marcus J Miller, Weimin Bi, Pengfei Liu, Fernando Scaglia
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy. American journal of medical genetics. Part A (2022)
Josephine Shuk Ching Chong, Ye Cao, Eva L W Fung, Soledad Kleppe, Karen W Gripp, Jozef Hertecant, Ayman W. El-Hattab, Jehan Suleiman, Gary Clark, Gretchen von Allmen, Olga Rodziyevska, Richard Alan Lewis, Jill Anne Rosenfeld, Jie Dong, null null, Xia Wang, Marcus J Miller, Weimin Bi, Pengfei Liu, Fernando Scaglia
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy. American journal of medical genetics. Part A 191 (3) (2022)
Azza Salah, Mohammed Almannai, Mode Al Ojaimi, Mandy Radefeldt, Nishtha Gulati, Maria Iqbal, Salem Alawbathani, Ruslan Al-Ali, Christian Beetz, Ayman W. El-Hattab
A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features. Clinical genetics 101 (5-6) (2022)
Josephine Shuk Ching Chong, Ye Cao, Eva L W Fung, Soledad Kleppe, Karen W Gripp, Jozef Hertecant, Ayman W. El-Hattab, Jehan Suleiman, Gary Clark, Gretchen von Allmen, Olga Rodziyevska, Richard Alan Lewis, Jill Anne Rosenfeld, Jie Dong, null null, Xia Wang, Marcus J Miller, Weimin Bi, Pengfei Liu, Fernando Scaglia
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy. American journal of medical genetics. Part A 191 (3) (2022)
Ismael Maatouk, Ayman W. El-Hattab
The int22h1/int22h2-Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and Cancer. Genes 12 (6) (2021)
Ismael Maatouk, Cheryl Dickerson, Myra J Wick, Najla Al-Sweel, Amanda S Openshaw, Siddharth Srivastava, Lindsay C Swanson, Nuria C Bramswig, Alma Kuechler, Bo Hong, Leah R Fleming, Kathryn Curry, Stephen P Robertson, Erica F Andersen, Ayman W. El-Hattab
Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features. Human mutation 41 (7) (2020)
Veronica Arora, Suliman Khan, Ayman W. El-Hattab, Ratna Dua Puri, Maria Eugenia Rocha, Rijad Merdzanic, Omid Paknia, Christian Beetz, Arndt Rolfs, Aida M Bertoli-Avella, Peter Bauer, Ishwar C Verma
Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis. Journal of the American Society of Nephrology : JASN 32 (1) (2020)
Fatma Al Jasmi, Nuha Al Zaabi, Khalid Al-Thihli, Amal M Al Teneiji, Jozef Hertecant, Ayman W. El-Hattab
Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases. Journal of central nervous system disease 12 (2020)
Weiyi Mu, Nicoline Schiess, Jennifer L Orthmann-Murphy, Ayman W. El-Hattab
The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population. Journal of neurogenetics 33 (1) (2019)
Christian Beetz, Najim Ameziane, Ameni Kdissa, Vasiliki Karageorgou, Peter Bauer, Jehan Suleiman, V Reid Sutton, Ayman W. El-Hattab
VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features. Clinical genetics 97 (4) (2019)
Jehan Suleiman, Korbinian Maria Riedhammer, Timothy Jicinsky, Melinda Mundt, Laurie Werner, Mirjana Gusic, Anna L Burgemeister, Hessa S Alsaif, Maha Abdulrahim, Nabil N Moghrabi, Manal Nicolas-Jilwan, Moeenaldeen AlSayed, Weimin Bi, Srirangan Sampath, Fowzan Sami Alkuraya, Ayman W. El-Hattab
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. Human mutation 40 (11) (2019)
Tin K Chan, Mohammed K Alkaabi, Ahmed M ElBarky, Ayman W. El-Hattab
LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome. Clinical genetics 95 (2) (2018)
Jehan Suleiman, A M Al Hashem, B Tabarki, Khalid Al-Thihli, W Bi, Ayman W. El-Hattab
PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities. Clinical genetics 94 (3-4) (2018)
Ayman W. El-Hattab, Julia Wang, Hongzheng Dai, Mohammed Almannai, Christian Staufner, Majid Alfadhel, Michael J Gambello, Pankaj Prasun, Saleem Raza, Hernando J Lyons, Manal Afqi, Mohammed A M Saleh, Eissa A Faqeih, Hamad I Alzaidan, Abduljabbar Alshenqiti, Leigh Anne Flore, Jozef Hertecant, Stephanie Sacharow, Deborah S Barbouth, Kei Murayama, Amit A Shah, Henry C Lin, Lee-Jun C Wong
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. Human mutation 39 (4) (2018)
Jehan Suleiman, M Mundt, S Sampath, Ayman W. El-Hattab
TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies. Clinical genetics 94 (1) (2018)
Karen Wessel, Jehan Suleiman, Tamam E Khalaf, Shivendra Kishore, Arndt Rolfs, Ayman W. El-Hattab
17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report. BMC medical genetics 18 (1) (2017)
Mariam S Al Harbi, Ayman W. El-Hattab
Protein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans. Case reports in dermatological medicine 2017 (2017)
Muna A Al Dhaibani, Diane Allingham-Hawkins, Ayman W. El-Hattab
De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report. BMC medical genetics 18 (1) (2017)
Jehan Suleiman, D Allingham-Hawkins, M Hashem, H E Shamseldin, Fowzan Sami Alkuraya, Ayman W. El-Hattab
WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome. Clinical genetics 93 (2) (2017)
Ayman W. El-Hattab, Hongzheng Dai, Mohammed Almannai, Julia Wang, Eissa A Faqeih, Ali Al Asmari, Mohammed A M Saleh, Mohammed A O Elamin, Majid Alfadhel, Fowzan S Alkuraya, Mais Hashem, Mazhor S Aldosary, Rawan Almass, Faten B Almutairi, Maysoon Alsagob, Mohammed Al-Owain, Shirin Al-Sharfa, Zuhair N Al-Hassnan, Zuhair Rahbeeni, Mohammed A Al-Muhaizea, Nawal Makhseed, Gretchen K Foskett, David A Stevenson, Natalia Gomez-Ospina, Chung Lee, Richard G Boles, Samantha A Schrier Vergano, Saskia B Wortmann, Wolfgang Sperl, Thomas Opladen, Georg F Hoffmann, Maja Hempel, Holger Prokisch, Bader Alhaddad, Johannes Adalbert Mayr, Wenyaw Chan, Namik Kaya, Lee-Jun C Wong
Molecular and clinical spectra of FBXL4 deficiency. Human mutation 38 (12) (2017)

Ayman W. El-Hattab.css-eqlu8i{font-size:small;padding-left:4px;} (Ayman W El-Hattab, A W El-Hattab)

Publication Activity (10 Years)

Top Topics

Top Venues

Ayman W. El-Hattab (Ayman W El-Hattab, A W El-Hattab)