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| 36928758 | Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review. | Eur J Pediatr | 2023 |
| 37996946 | Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region. | Orphanet J Rare Dis | 2023 |
| 37841849 | Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition. | Res Sq | 2023 |
| 37501185 | European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis. | Orphanet J Rare Dis | 2023 |
| 37409780 | Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study. | Muscle Nerve | 2023 |
| 37140704 | Correction to: Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review. | Eur J Pediatr | 2023 |
| 37365619 | Real-world evidence in achondroplasia: considerations for a standardized data set. | Orphanet J Rare Dis | 2023 |
| 36533697 | A breakthrough effect of gene replacement therapy on respiratory outcomes in children with spinal muscular atrophy. | Pediatr Pulmonol | 2023 |
| 34590781 | Expanding on the phenotypic spectrum of Woodhouse-Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review. | Am J Med Genet A | 2022 |
| 35897040 | Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations. | Orphanet J Rare Dis | 2022 |
| 36303251 | Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region. | Orphanet J Rare Dis | 2022 |
| 35987833 | Optimising care and follow-up of adults with achondroplasia. | Orphanet J Rare Dis | 2022 |
| 35170426 | The re-occurrence of dilated cardiomyopathy in propionic acidemia after liver transplantation requiring heart transplant, first case from Middle East. | Cardiol Young | 2022 |
| 32439809 | Bi-allelic <i>TTC5</i> variants cause delayed developmental milestones and intellectual disability. | J Med Genet | 2021 |
| 33500254 | Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress. | Diabetes | 2021 |
| 34276047 | Gene therapy for spinal muscular atrophy: the Qatari experience. | Gene Ther | 2021 |
| 34296759 | Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins. | Clin Genet | 2021 |
| 34003604 | De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. | Am J Med Genet A | 2021 |
| 34332609 | The first European consensus on principles of management for achondroplasia. | Orphanet J Rare Dis | 2021 |
| 33188300 | Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition. | Genet Med | 2021 |
| 32707087 | Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis. | Am J Hum Genet | 2020 |
| 31793205 | Effects of consanguinity in a cohort of subjects with certain genetic disorders in Qatar. | Mol Genet Genomic Med | 2020 |
| 33275912 | Response to Hall et al. | Am J Hum Genet | 2020 |
| 32856792 | A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families. | Am J Med Genet A | 2020 |
| 32965080 | Further delineation of HIDEA syndrome. | Am J Med Genet A | 2020 |
| 29721912 | A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients. | JIMD Rep | 2019 |
| 31704158 | Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study. | Neuromuscul Disord | 2019 |
| 30237576 | Autozygome and high throughput confirmation of disease genes candidacy. | Genet Med | 2019 |
| 31240737 | Analysis of the Qatari R336C cystathionine β-synthase protein in mice. | J Inherit Metab Dis | 2019 |
| 31625567 | Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar. | Hum Mol Genet | 2019 |
| 31455396 | Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome. | Orphanet J Rare Dis | 2019 |
| 31102204 | Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia. | Adv Ther | 2019 |
| 30926181 | 6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects. | Pediatr Neurol | 2019 |
| 30740731 | Newborn screening for homocystinurias: Recent recommendations versus current practice. | J Inherit Metab Dis | 2019 |
| 30919572 | Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience. | Am J Med Genet A | 2019 |
| 30968424 | Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population. | J Inherit Metab Dis | 2019 |
| 30723320 | Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome. | Genet Med | 2019 |
| 30755602 | Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. | Nat Commun | 2019 |
| 30579468 | Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy. | J Pediatr | 2019 |
| 30553997 | Clinical Exome Sequencing unravels new disease-causing mutations in the myeloproliferative neoplasms: A pilot study in patients from the state of Qatar. | Gene | 2019 |
| 30408270 | In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies. | Hum Mutat | 2019 |
| 28787085 | Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome. | Clin Genet | 2018 |
| 30054919 | Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies. | Clin Genet | 2018 |
| 30013181 | Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. | Nat Genet | 2018 |
| 30526868 | Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. | Am J Hum Genet | 2018 |
| 30395541 | Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies. | J Clin Invest | 2018 |
| 30345601 | Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin. | Am J Med Genet A | 2018 |
| 30264509 | Clinical genetics and genomic medicine in Qatar. | Mol Genet Genomic Med | 2018 |
| 29027067 | Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders. | J Inherit Metab Dis | 2018 |
| 29239743 | Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients. | Pediatr Neurol | 2018 |