FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature.
authors: Ramakrishna NB, Mohamad Sahari UB, Johmura Y, Ali NA, Alghamdi M, Bauer P, Khan S, Ordoñez N, Ferreira M, Pinto Basto J, Alkuraya FS, Faqeih EA, Mori M, Almontashiri NAM, Al Shamsi A, ElGhazali G, Abu Subieh H, Al Ojaimi M, El-Hattab AW, Said Al-Kindi SA, Alhashmi N, Alhabshan F, Al Saman A, Tfayli H, Arabi M, Khalifeh S, Taylor A, Alfadhel M, Jain R, Sinha S, Shenbagam S, Ramachandran R, Altunoğlu U, Jacob A, Thalange N, El Bejjani M, Perrin A, Shin JW, Al-Maawali A, Al-Shidhani A, Al-Futaisi A, Rabea F, Chekroun I, Almarri MA, Ohta T, Nakanishi M, Alsheikh-Ali A, Ali FR, Bertoli-Avella AM, Reversade B, Abou Tayoun A
source: Am J Hum Genetpublication date: 5 April 2025
Primary Carnitine Deficiency.
authors: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, El-Hattab AW, Almannai M
publication date: 5 December 2024
The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population.
authors: Khalaf T, Al Ojaimi M, Saleh DA, Sulaiman A, Sohal AP, Khan A, El-Hattab AW
source: Clin Genetpublication date: 1 July 2024
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
authors: Almannai M, Marafi D, Zaki MS, Maroofian R, Efthymiou S, Saadi NW, Filimban B, Dafsari HS, Rahman F, Maqbool S, Faqeih E, Al Mutairi F, Alsharhan H, Abdelaty O, Bin-Hasan S, Duan R, Noureldeen MM, Alqattan A, Houlden H, Hunter JV, Posey JE, Lupski JR, El-Hattab AW
source: Clin Genetpublication date: 1 June 2024
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
authors: Husain RA, Jiao X, Hennings JC, Giesecke J, Palsule G, Beck-Wödl S, Osmanović D, Bjørgo K, Mir A, Ilyas M, Abbasi SM, Efthymiou S, Dominik N, Maroofian R, Houlden H, Rankin J, Pagnamenta AT, Nashabat M, Altwaijri W, Alfadhel M, Umair M, Khouj E, Reardon W, El-Hattab AW, Mekki M, Houge G, Beetz C, Bauer P, Putoux A, Lesca G, Sanlaville D, Alkuraya FS, Taylor RW, Mentzel HJ, Hübner CA, Huppke P, Hart RP, Haack TB, Kiledjian M, Rubio I
source: Brainpublication date: 4 April 2024
Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.
authors: Xie MJ, Cromie GA, Owens K, Timour MS, Tang M, Kutz JN, El-Hattab AW, McLaughlin RN Jr, Dudley AM
source: PLoS Genetpublication date: 9 October 2023
Perinatal Outcomes in Foetuses with Increased Nuchal Translucency and Normal Karyotype: A Retrospective Cohort Study from the United Arab Emirates.
authors: Khair H, Hilary S, Al Awar S, Zareba K, Maki S, Sayed G, Mutare S, El-Hattab AW, Al Ibrahim AH
source: J Clin Medpublication date: 4 October 2023
SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria.
authors: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, El-Hattab AW, Scaglia F
publication date: 28 September 2023
Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges.
authors: Adachi T, El-Hattab AW, Jain R, Nogales Crespo KA, Quirland Lazo CI, Scarpa M, Summar M, Wattanasirichaigoon D
source: Int J Environ Res Public Healthpublication date: 8 March 2023
