Majid Alfadhel

Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 41

Top Venues

Molecular genetics & genomic medicine

BMC medical genomics

Child neurology open

International journal of environmental research and public health

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

Publications

Majid Alfadhel, Rayyan Albarakati
First successful outcomes of pegvaliase (PALYNZIQ) in children. BMC medical genomics 17 (1) (2024)
Muhammad Umair, Meshael Alharbi, Essra Aloyouni, Abdulkareem Al Abdulrahman, Mohammed Aldrees, Abeer Al Tuwaijri, Muhammad Bilal, Majid Alfadhel
Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder. Molecular genetics & genomic medicine 12 (7) (2024)
Majid Alfadhel, Rayyan Albarakati
First successful outcomes of pegvaliase (PALYNZIQ) in children. BMC medical genomics 17 (1) (2024)
Majid Alfadhel, Rayyan Albarakati
First successful outcomes of pegvaliase (PALYNZIQ) in children. BMC medical genomics 17 (1) (2024)
Majid Alfadhel, Rayyan Albarakati
First successful outcomes of pegvaliase (PALYNZIQ) in children. BMC medical genomics 17 (1) (2024)
Majid Alfadhel, Rayyan Albarakati
First successful outcomes of pegvaliase (PALYNZIQ) in children. BMC medical genomics 17 (1) (2024)
Muhammad Umair, Meshael Alharbi, Essra Aloyouni, Abdulkareem Al Abdulrahman, Mohammed Aldrees, Abeer Al Tuwaijri, Muhammad Bilal, Majid Alfadhel
Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder. Molecular genetics & genomic medicine 12 (7) (2024)
Muhammad Umair, Meshael Alharbi, Essra Aloyouni, Abdulkareem Al Abdulrahman, Mohammed Aldrees, Abeer Al Tuwaijri, Muhammad Bilal, Majid Alfadhel
Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder. Molecular genetics & genomic medicine 12 (7) (2024)
Majid Alfadhel, Nouriya Al Sannaa, Rawda Sunbul, Huda Al-Khawaja, Sumayah Askandarani, Talal Alanzi, Mamoun Elawad, Konstantinos Fourtounas
Experts' Opinion in Fabry Disease Management and the Unmet Medical Need: The Saudi Perspective. Therapeutics and clinical risk management 20 (2024)
Majid Alfadhel, Muhammad Umair, Abeer Al Tuwaijri, Fuad Al Mutairi
A Patient with Coarse Facial Features and Molecular Odyssey: Lessons Learned and Best Practice. Clinical chemistry 69 (1) (2023)
Majid Alfadhel, Muhammad Umair, Abeer Al Tuwaijri, Fuad Al Mutairi
A Patient with Coarse Facial Features and Molecular Odyssey: Lessons Learned and Best Practice. Clinical chemistry 69 (1) (2023)
Faisal Alghubaywi, Mohammed I AlJasser, Majid Alfadhel, Hind M Almohanna
Isolated Palmoplantar Lentiginosis. Clinical, cosmetic and investigational dermatology 16 (2023)
Nawaf Alawad, Abdullah Alangari, Abdulaziz Allhybi, Nazish Masud, Faisal Almuzaini, Mohammed Alshamari, Muhammad Umair, Majid Alfadhel
Assessment of attitudes towards the use of preimplantation genetic diagnosis in a single center in Riyadh, Saudi Arabia. Journal of genetic counseling (2023)
Abeer Al Tuwaijri, Yusra Alyafee, Muhammad Umair, Arwa A Alsubait, Mashael Alharbi, Hamad AlEidi, Mariam Ballow, Mohammed Aldrees, Qamre Alam, Abdulkareem Al Abdulrahman, Muhammad Talal Alrifai, Majid Alfadhel
Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype. Molecular genetics & genomic medicine (2022)
Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan G Karimiani, Anna-Elina Lehesjoki, Mikko Muona, Anders Paetau, Yuri Miyazaki, Yoko Hirano, Laila Selim, Marina de França, Rodrigo Ambrosio Fock, Christian Beetz, Claudia A L Ruivenkamp, Alison J Eaton, Francois D Morneau-Jacob, Lena Sagi-Dain, Lilach Shemer-Meiri, Amir Peleg, Jumana Haddad-Halloun, Daan J Kamphuis, Cacha M P C D Peeters-Scholte, Semra Hiz Kurul, Rita Horvath, Hanns Lochmüller, David Murphy, Stephan Waldmüller, Stephanie Spranger, David Overberg, Alison M Muir, Aboulfazl Rad, Barbara Vona, Firdous Abdulwahad, Sateesh Maddirevula, Inna S Povolotskaya, Victoria Y Voinova, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Fowzan Sami Alkuraya, Heather C Mefford, Majid Alfadhel, Tobias B Haack, Pasquale Striano, Mariasavina Severino, Masaki Fukata, Yvonne Hilhorst-Hofstee, Henry Houlden
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy. Brain : a journal of neurology 145 (7) (2022)
Abeer Al Tuwaijri, Yusra Alyafee, Mashael Alharbi, Maryam Ballow, Mohammed Aldrees, Qamre Alam, Rola A Sleiman, Muhammad Umair, Majid Alfadhel
Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay. Molecular genetics & genomic medicine 10 (8) (2022)
Majid Alfadhel, Muhammad Umair, Malak A Alghamdi, Khalid Al Fakeeh, Abdullah T Al Qahtani, Afrah Farahat, Mohamed A Shalaby, Jameela A Kari, Rupesh Raina, Pierre Cochat, Khalid A Alhasan
Clinical and molecular characterization of a large primary hyperoxaluria cohort from Saudi Arabia: a retrospective study. Pediatric nephrology (Berlin, Germany) (2022)
Suliman Alghnam, Saleh A Alessy, Mohamed Bosaad, Sarah Alzahrani, Ibrahim Al Alwan, Ali Al Qarni, Riyadh Alshammari, Mohammed Al Dubayee, Majid Alfadhel
Reply to Alsarwani, R.M. Comment on "Alghnam et al. The Association between Obesity and Chronic Conditions: Results from a Large Electronic Health Records System in Saudi Arabia. Int. J. Environ. Res. Public Health 2021, 18 , 12361". International journal of environmental research and public health 19 (16) (2022)
Andreas R Janecke, Xiaoqin Liu, Rüdiger Adam, Sumanth Punuru, Arne Viestenz, Valeria Strauß, Martin Laass, Elizabeth Sanchez, Roberto Adachi, Martha P Schatz, Ujwala S Saboo, Naveen Mittal, Klaus Rohrschneider, Johanna C Escher, Anuradha Ganesh, Sana Al Zuhaibi, Fathiya Al Murshedi, Badr M Rasheed Alsaleem, Majid Alfadhel, Siham Al Sinani, Fowzan Sami Alkuraya, Lukas A Huber, Thomas Müller, Ruth Heidelberger, Roger Janz
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects. Human genetics 140 (8) (2021)
Taghrid Aloraini, Lamia Alsubaie, Sarah Alasker, Abdulrahman Al Muitiri, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Farouq Ababneh, Majid Alfadhel, Ahmed Alfares
The rate of secondary genomic findings in the Saudi population. American journal of medical genetics. Part A (2021)
Yusra Alyafee, Qamre Alam, Abeer Al Tuwaijri, Muhammad Umair, Shahad Haddad, Meshael Alharbi, Hayat Alrabiah, Maha Al-Ghuraibi, Sahar Al-Showaier, Majid Alfadhel
Next-Generation Sequencing-Based Pre-Implantation Genetic Testing for Aneuploidy (PGT-A): First Report from Saudi Arabia. Genes 12 (4) (2021)
Majid Alfadhel, Marwan Nashabat, Mohammed Saleh, Mohammed Elamin, Ahmed Alfares, Ali Al Othaim, Muhammad Umair, Hind Ahmed, Faroug Ababneh, Fuad Al Mutairi, Wafaa Eyaid, Abdulrahman Alswaid, Lina Alohali, Eissa Faqeih, Mohammed Almannai, Majed Aljeraisy, Bayan Albdah, Mohamed A Hussein, Zuhair Rahbeeni, Ali Alasmari
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial. Orphanet journal of rare diseases 16 (1) (2021)
Suliman Alghnam, Saleh A Alessy, Mohamed Bosaad, Sarah Alzahrani, Ibrahim I Al Alwan, Ali Al Qarni, Riyadh Alshammari, Mohammed Al Dubayee, Majid Alfadhel
The Association between Obesity and Chronic Conditions: Results from a Large Electronic Health Records System in Saudi Arabia. International journal of environmental research and public health 18 (23) (2021)
Abdulaziz Asiri, Deemah Alwadaani, Muhammad Umair, Kheloud M Alhamoudi, Mohammed H Almuhanna, Abdul Nasir, Bahauddeen M Alrfaei, Abeer Al Tuwaijri, Tlili Barhoumi, Yusra Alyafee, Bader Almuzzaini, Mohammed Aldrees, Mariam Ballow, Latifah Alayyar, Abdulkareem AlAbdulrahman, Yazeid Alhaidan, Nahlah Al Ghasham, Sulaiman Al-Ajaji, Mohammad Alsalamah, Wafa Al Suwairi, Majid Alfadhel
Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo CDC42 Gene Defect: Expanding the Molecular and Phenotypic Spectrum. Genes 12 (2) (2021)
Aida Maria Bertoli-Avella, Ronja Hotakainen, Maryam Al Shehhi, Alice Urzi, Catarina Pareira, Anett Marais, Khoula Al Shidhani, Sumaya Aloraimi, Galina Morales-Torres, Steffen Fisher, Laura Demuth, Laila Abdel Moteleb Selim, Nihal Al Menabawy, Maryam Busehail, Mohammed AlShaikh, Naser Gilani, Dler Nooruldeen Chalabi, Nasser S Alharbi, Majid Alfadhel, Mohammed Abdelrahman, Hanka Venselaar, Nadeem Anjum, Anjum Saeed, Malak Ali Alghamdi, Hamad Aljaedi, Hisham Arabi, Vasiliki Karageorgou, Suliman Khan, Zahra Hajjari, Mandy Radefeldt, Ruslan Al-Ali, Kornelia Tripolszki, Amer Jamhawi, Omid Paknia, Claudia Cozma, Huma Cheema, Najim Ameziane, Saleh Al-Muhsen, Peter Bauer
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the <i>AGR2</i> gene. Journal of medical genetics 59 (10) (2021)
Muhammad Umair, Mariam Ballow, Abdulaziz Asiri, Yusra Alyafee, Abeer Al Tuwaijri, Kheloud M Alhamoudi, Taghrid Aloraini, Marwa Abdelhakim, Azza Thamer Althagafi, Senay Kafkas, Lamia Alsubaie, Muhammad Talal Alrifai, Robert Hoehndorf, Ahmed Alfares, Majid Alfadhel
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay. Clinical genetics 98 (6) (2020)
Lamia Alsubaie, Randa Alkhalaf, Taghrid Aloraini, Manal Amoudi, Abdulrahman Swaid, Fuad Al Mutairi, Majid Alfadhel, Wafaa Eyaid, Wafaa Sewairi, Ahmed Alfares
MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database. Annals of human genetics 84 (5) (2020)
Felippe Borlot, Ahmed Abushama, Nadine Morrison-Levy, Puneet Jain, Kollencheri Puthenveettil Vinayan, Musaad Abukhalid, Hesham M Aldhalaan, Hanin S Almuzaini, Sheffali Gulati, Tova Hershkovitz, Ramesh Konanki, Lokesh Lingappa, Aimee F Luat, Shatha Shafi, Brahim Tabarki, Maya Thomas, Sangeetha Yoganathan, Majid Alfadhel, Ravindra Arya, Elizabeth J Donner, Salleh N Ehaideb, Vykuntaraju K Gowda, Vivek Jain, Priyanka Madaan, Kenneth A Myers, Hiroshi Otsubo, Prateek Panda, Jitendra Kumar Sahu, Letícia P B Sampaio, Suvasini Sharma, Elisabeth Simard-Tremblay, Maria Zak, Robyn Whitney
KCNT1-related epilepsy: An international multicenter cohort of 27 pediatric cases. Epilepsia 61 (4) (2020)
Abdulaziz Asiri, Essra Aloyouni, Muhammad Umair, Yusra Alyafee, Abeer Al Tuwaijri, Kheloud M Alhamoudi, Bader Almuzzaini, Abeer Al Baz, Deemah Alwadaani, Marwan Nashabat, Majid Alfadhel
Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay. Annals of clinical and translational neurology 7 (6) (2020)
Abeer Al Tuwaijri, Majid Alfadhel
MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature. Journal of pediatric endocrinology & metabolism : JPEM 32 (4) (2019)
Muhammad Umair, Majid Alfadhel
Genetic Disorders Associated with Metal Metabolism. Cells 8 (12) (2019)
Rayan Alfallaj, Majid Alfadhel
Glycine Transporter 1 Encephalopathy From Biochemical Pathway to Clinical Disease: Review. Child neurology open 6 (2019)
Majid Alfadhel
Multiple Mitochondrial Dysfunctions Syndrome 4 Due to ISCA2 Gene Defects: A Review. Child neurology open 6 (2019)
Marwan Nashabat, Abdulrahman Obaid, Fuad Al Mutairi, Mohammed Saleh, Mohammed Elamin, Hind Ahmed, Faroug Ababneh, Wafaa Eyaid, Abdulrahman Alswaid, Lina Alohali, Eissa Faqeih, Majed Aljeraisy, Mohamed A Hussein, Ali Alasmari, Majid Alfadhel
Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial. BMC pediatrics 19 (1) (2019)
Shahad AlSaif, Muhammad Umair, Majid Alfadhel
Biallelic SCN2A Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review. Journal of central nervous system disease 11 (2019)
Maha A Al-Rakan, Manal D Abothnain, Muhammad T Alrifai, Majid Alfadhel
Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings. BMC ophthalmology 18 (1) (2018)
Leen Hijazi, Amna Kashgari, Majid Alfadhel
Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation. Journal of child neurology 33 (13) (2018)
Afnan AlGhamdi, Muhammad Talal Alrifai, Abdullah I Al Hammad, Fuad Al Mutairi, Abdulrahman Alswaid, Wafaa Eyaid, Majid Alfadhel
Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients. Journal of child neurology 33 (11) (2018)
Majid Alfadhel, Marwan Nashabat, Khalid Hundallah, Amal Al Hashem, Ahmed Alrumayyan, Brahim Tabarki
PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review. Child neurology open 5 (2018)
Majid Alfadhel, Marwan Nashabat, Hanan Al Qahtani, Ahmed Alfares, Fuad Al Mutairi, Hesham Al Shaalan, Ganka V Douglas, Klaas Wierenga, Jane Juusola, Muhammad Talal Alrifai, Stefan T Arold, Fowzan Alkuraya, Qais Abu Ali
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans. Human genetics 135 (11) (2016)
Majid Alfadhel, Mohammed Benmeakel, Mohammad Arif Hossain, Fuad Al Mutairi, Ali Al Othaim, Ahmed A Alfares, Mohammed Al Balwi, Abdullah Alzaben, Wafaa Eyaid
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia. Orphanet journal of rare diseases 11 (1) (2016)

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Publication Activity (10 Years)

Top Topics

Top Venues

Majid Alfadhel