Research and Publications

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

Cerebral folate deficiency: A report of two affected siblings.

authors: Almahmoud R, Mekki M, El-Hattab AW

source: Mol Genet Metab Reppublication date: 12 April 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

Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy.

authors: Chong SC, Cao Y, Fung ELW, Kleppe S, Gripp KW, Hertecant J, El-Hattab AW, Suleiman J, Clark G, von Allmen G, Rodziyevska O, Lewis RA, Rosenfeld JA, Dong J, Undiagnosed Diseases Network, Wang X, Miller MJ, Bi W, Liu P, Scaglia F

source: Am J Med Genet Apublication date: 1 March 2023