Lihadh Al-Gazali (L Al-Gazali)

Publication Activity (10 Years)

Years Active: 2017-2022
Publications (10 Years): 11

Top Topics

Dna Methylation

Endoplasmic Reticulum

Anterior Cruciate Ligament Reconstruction

Top Venues

Clinical genetics

American journal of medical genetics. Part A

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

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

Publications

Hanadi A Abdelrahman, Nadia Akawi, Aisha M Al-Shamsi, Amanat Ali, Fathiya Al-Murshedi, Anne John, Jozef Hertecant, Lihadh Al-Gazali, Bassam R Ali
Bi-allelic null variant in matrix metalloproteinase-15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive. Clinical genetics 101 (4) (2022)
Gregory Webster, Elhadi Husein Aburawi, Marie-A Chaix, Stephanie F Chandler, Roger Sik Yin Foo, A K M Monwarul Islam, Janneke A E Kammeraad, John D Rioux, Lihadh Al-Gazali, Md Zahidus Sayeed, Tingting Xiao, Han Zhang, Lijian Xie, Cuilan Hou, Alexander Ing, Kai Lee Yap, Arthur A M Wilde, Zahurul A Bhuiyan
Life-threatening arrhythmias with autosomal recessive TECRL variants. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 23 (5) (2021)
Afif Ben-Mahmoud, Aisha M Al-Shamsi, Bassam R Ali, Lihadh Al-Gazali
Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities. Journal of molecular neuroscience : MN 70 (3) (2021)
C Baldi, A M Bertoli-Avella, N Al-Sannaa, M Alfadhel, K Al-Thihli, S Alameer, A A Elmonairy, A M Al Shamsi, H A Abdelrahman, Lihadh Al-Gazali, A Shawli, F Al-Hakami, H Yavuz, K K Kandaswamy, A Rolfs, O Brandau, Peter Bauer
Expanding the clinical and genetic spectra of NKX6-2-related disorder. Clinical genetics 93 (5) (2019)
Atteeq U Rehman, Maryam Najafi, Marios Kambouris, Lihadh Al-Gazali, Periklis Makrythanasis, Abolfazl Rad, Reza Maroofian, Anna Rajab, Zornitza Stark, Jill V Hunter, Zeineb Bakey, Mari J Tokita, Weimin He, Francesco Vetrini, Andrea Petersen, Federico A Santoni, Hanan Hamamy, Kaman Wu, Fatma Al-Jasmi, Martin Helmstädter, Sebastian J Arnold, Fan Xia, Christopher Richmond, Pengfei Liu, Ehsan Ghayoor Karimiani, GholamReza Karami Madani, Sebastian Lunke, Hatem El-Shanti, Christine M Eng, Stylianos E Antonarakis, Jozef Hertecant, Magdalena Walkiewicz, Yaping Yang, Miriam Schmidts
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. Human mutation 40 (3) (2018)
A Ben-Mahmoud, S Ben-Salem, M Al-Sorkhy, A John, B R Ali, Lihadh Al-Gazali
A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations. Clinical genetics 93 (6) (2018)
Hanadi A Abdelrahman, Aisha M Al-Shamsi, Bassam R Ali, Lihadh Al-Gazali
A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease. Clinical genetics 94 (6) (2018)
Hanadi A Abdelrahman, Aisha Al-Shamsi, Anne John, Jozef Hertecant, Ali Lootah, Bassam R Ali, Lihadh Al-Gazali
A recessive truncating variant in thrombospondin-1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family. American journal of medical genetics. Part A 176 (9) (2018)
Raida Khalil, Connor Kenny, R Sean Hill, Ganeshwaran H Mochida, Ramzi Nasir, Jennifer N Partlow, Brenda J Barry, Muna Al-Saffar, Chloe Egan, Christine R Stevens, Stacey B Gabriel, A James Barkovich, Jay W Ellison, Lihadh Al-Gazali, Christopher A Walsh, Maria H Chahrour
PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 177 (8) (2018)
Nesreen K Al-Jezawi, Bassam R Ali, Lihadh Al-Gazali
Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II. American journal of medical genetics. Part A 173 (7) (2017)
Nesrin Gariballa, Afif Ben-Mahmoud, Makanko Komara, Aisha M Al-Shamsi, Anne John, Bassam R Ali, Lihadh Al-Gazali
A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss. American journal of medical genetics. Part A 173 (5) (2017)