Almundher Al-Maawali

ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 21

Top Venues

Clinical genetics

Journal of pediatric genetics

American journal of medical genetics. Part A

Human mutation

Sultan Qaboos University College of Medicine and Health Sciences

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

Affiliation History

Sultan Qaboos University College of Medicine and Health Sciences Aug 01 2015

Oman

Medical Genetics :: Genetics

Publications

Luisa Averdunk, Khalid Al-Thihli, Harald Surowy, Hermann-Josef Lüdecke, Matthias Drechsler, Gökhan Yigit, Lukasz Smorag, Bassam Al Hallak, Yun Li, Janine Altmüller, Tanja Guthoff, Michael Wallot, Peter Nürnberg, Bernd Wollnik, Rami Abou Jamra, Almundher Al-Maawali, Dagmar Wieczorek
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain. Clinical genetics 103 (4) (2023)
Luisa Averdunk, Khalid Al-Thihli, Harald Surowy, Hermann-Josef Lüdecke, Matthias Drechsler, Gökhan Yigit, Lukasz Smorag, Bassam Al Hallak, Yun Li, Janine Altmüller, Tanja Guthoff, Michael Wallot, Peter Nürnberg, Bernd Wollnik, Rami Abou Jamra, Almundher Al-Maawali, Dagmar Wieczorek
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain. Clinical genetics 103 (4) (2023)
Luisa Averdunk, Khalid Al-Thihli, Harald Surowy, Hermann-Josef Lüdecke, Matthias Drechsler, Gökhan Yigit, Lukasz Smorag, Bassam Al Hallak, Yun Li, Janine Altmüller, Tanja Guthoff, Michael Wallot, Peter Nürnberg, Bernd Wollnik, Rami Abou Jamra, Almundher Al-Maawali, Dagmar Wieczorek
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain. Clinical genetics 103 (4) (2023)
Yusriya Al Rawahi, Omar Al Sunaidi, Mohammed Al-Masqari, Adawiya Al Jamei, Dafalla Rahamtalla, Almundher Al-Maawali
Biallelic variants of the first Kunitz domain of SPINT2 cause a non-syndromic form of congenital diarrhea and tufting enteropathy. American journal of medical genetics. Part A (2023)
Milo B Fasken, Sara W Leung, Lauryn A Cureton, Maha Al-Awadi, Adila Al-Kindy, Sohail Khoshnevis, Homa Ghalei, Almundher Al-Maawali, Anita H Corbett
A Biallelic Variant of the RNA Exosome Gene EXOSC4 Causes Translational Defects Associated with a Neurodevelopmental Disorder. medRxiv : the preprint server for health sciences (2023)
Almundher Al-Maawali, Fathiya Al-Murshedi, Amna Al-Futaisi, Ahmed Mansy, Asila Al-Habsi, Katta Mohan Girisha
Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy. European journal of human genetics : EJHG (2023)
Luisa Averdunk, Khalid Al-Thihli, Harald Surowy, Hermann-Josef Lüdecke, Matthias Drechsler, Gökhan Yigit, Lukasz Smorag, Bassam Al Hallak, Yun Li, Janine Altmüller, Tanja Guthoff, Michael Wallot, Peter Nürnberg, Bernd Wollnik, Rami Abou Jamra, Almundher Al-Maawali, Dagmar Wieczorek
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the Guanine Exchange Domain. Clinical genetics (2022)
Ghalia Al-Kasbi, Fathiya Al-Murshedi, Amna Al-Futaisi, Tariq Al-Jabry, Fahad Zadjali, Said Al-Yahyaee, Almundher Al-Maawali
Revisiting Exome Data Identified Missed Splice Site Variant of the Asparagine Synthetase ( ASNS ) Gene. Journal of pediatric genetics 13 (1) (2022)
Abdulhamid Al-Hinai, Samiya Al-Hashmi, Anuradha Ganesh, Nadia Al-Hashmi, Abeer Al-Saegh, Watfa Al-Mamari, Fathiya Al-Murshedi, Khalid Al-Thihli, Adila Al-Kindi, Almundher Al-Maawali
Further phenotypic delineation of Alazami syndrome. American journal of medical genetics. Part A 188 (8) (2022)
Ghalia Al-Kasbi, Fathiya Al-Murshedi, Amna Al-Futaisi, Tariq Al-Jabry, Fahad Zadjali, Said Al-Yahyaee, Almundher Al-Maawali
Revisiting Exome Data Identified Missed Splice Site Variant of the Asparagine Synthetase ( ASNS ) Gene. Journal of pediatric genetics 13 (1) (2022)
Ghalia Al-Kasbi, Fathiya Al-Murshedi, Amna Al-Futaisi, Tariq Al-Jabry, Fahad Zadjali, Said Al-Yahyaee, Almundher Al-Maawali
Revisiting Exome Data Identified Missed Splice Site Variant of the Asparagine Synthetase ( ASNS ) Gene. Journal of pediatric genetics 13 (1) (2022)
Luisa Averdunk, Khalid Al-Thihli, Harald Surowy, Hermann-Josef Lüdecke, Matthias Drechsler, Gökhan Yigit, Lukasz Smorag, Bassam Al Hallak, Yun Li, Janine Altmüller, Tanja Guthoff, Michael Wallot, Peter Nürnberg, Bernd Wollnik, Rami Abou Jamra, Almundher Al-Maawali, Dagmar Wieczorek
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain. Clinical genetics (2022)
Ghalia Al-Kasbi, Fathiya Al-Murshedi, Amna Al-Futaisi, Tariq Al-Jabry, Fahad Zadjali, Said Al-Yahyaee, Almundher Al-Maawali
Revisiting Exome Data Identified Missed Splice Site Variant of the Asparagine Synthetase ( ASNS ) Gene. Journal of pediatric genetics 13 (1) (2022)
Ghalia Al-Kasbi, Abeer Al-Saegh, Ahmed Al-Qassabi, Tariq Al-Jabry, Fahad Zadjali, Said Al-Yahyaee, Almundher Al-Maawali
Biallelic PTRHD1 Frameshift Variants Associated with Intellectual Disability, Spasticity, and Parkinsonism. Movement disorders clinical practice 8 (8) (2021)
Khalid Al-Thihli, Cassian Afting, Nadia Al-Hashmi, Mohammed Mohammed, Svenja Sliwinski, Naema Al Shibli, Khoula Al-Said, Ghalia Al-Kasbi, Khalsa Al-Kharusi, Uta Merle, Joachim Füllekrug, Almundher Al-Maawali
Deficiency of acyl-CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset. Clinical genetics 99 (3) (2020)
Fathiya Al-Murshedi, Hassan Mirza, Abeer Al-Saegh, Maryam Al-Nabhani, Saud Al-Shabibi, Saleh Baawain, Amna Al-Futaisi, Wafaa Al-Shehhi, Almundher Al-Maawali
Variability of non-lethal Fowler syndrome phenotype associated with FLVCR2 variants. Clinical genetics 98 (5) (2020)
Amna Al-Futaisi, Faraz Ahmad, Ghalia Al-Kasbi, Khalid Al-Thihli, Roshan Koul, Almundher Al-Maawali
Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23. Clinical genetics 97 (4) (2019)
Khalfan Al Senaidi, Niranjan Joshi, Maryam Al-Nabhani, Ghalia Al-Kasbi, Abdullah Al Farqani, Khalid Al-Thihli, Almundher Al-Maawali
Phenotypic spectrum of ALPK3-related cardiomyopathy. American journal of medical genetics. Part A 179 (7) (2019)
Jonathan R Volpatti, Almundher Al-Maawali, Lindsay Smith, Aqeela Al-Hashim, Julie A Brill, James E Dowling
The expanding spectrum of neurological disorders of phosphoinositide metabolism. Disease models & mechanisms 12 (8) (2019)
Maryam Al-Nabhani, Samiya Al-Rashdi, Fathiya Al-Murshedi, Adila Al-Kindi, Khalid Al-Thihli, Abeer Al-Saegh, Amna Al-Futaisi, Watfa Al-Mamari, Fahad Zadjali, Almundher Al-Maawali
Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits. Clinical genetics 94 (6) (2018)
Fahad Zadjali, Aida Al-Yahyaee, Maryam Al-Nabhani, Saif Al-Mubaihsi, Arunodaya Gujjar, Sameer Raniga, Almundher Al-Maawali
Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease. Human mutation 39 (10) (2018)

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Publication Activity (10 Years)

Top Topics

Top Venues

Almundher Al-Maawali