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| 37214420 | Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database. | Front Genet | 2023 |
| 37517035 | Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. | Brain | 2023 |
| 36991187 | Entwined African and Asian genetic roots of medieval peoples of the Swahili coast. | Nature | 2023 |
| 34988996 | Bi-allelic null variant in matrix metalloproteinase-15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive. | Clin Genet | 2022 |
| 35227461 | PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies. | Biol Psychiatry | 2022 |
| 35064218 | Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features. | Nat Genet | 2022 |
| 33367594 | Life-threatening arrhythmias with autosomal recessive TECRL variants. | Europace | 2021 |
| 33875846 | Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders. | Genet Med | 2021 |
| 33531666 | A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. | Genet Med | 2021 |
| 34861176 | Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. | Am J Hum Genet | 2021 |
| 34374989 | Spectrum of neuro-genetic disorders in the United Arab Emirates national population. | Clin Genet | 2021 |
| 31468281 | A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity. | J Mol Neurosci | 2020 |
| 31721002 | Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities. | J Mol Neurosci | 2020 |
| 31949313 | A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. | Genet Med | 2020 |
| 31857706 | Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. | Genet Med | 2020 |
| 32103185 | Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival. | Genet Med | 2020 |
| 33342467 | Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots. | Mol Genet Metab | 2020 |
| 32219518 | The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis. | Hum Genet | 2020 |
| 32203228 | Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. | Genet Med | 2020 |
| 30520571 | Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. | Hum Mutat | 2019 |
| 31763347 | A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder. | Child Neurol Open | 2019 |
| 31587492 | Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia. | FEBS Open Bio | 2019 |
| 31493347 | Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features. | Mol Genet Genomic Med | 2019 |
| 31263215 | DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. | Genet Med | 2019 |
| 31191207 | Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in <i>DONSON</i>. | Mol Syndromol | 2019 |
| 31114289 | <i>VKORC1</i> variants as significant predictors of warfarin dose in Emiratis. | Pharmgenomics Pers Med | 2019 |
| 30909959 | Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. | Genome Med | 2019 |
| 30819258 | De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. | Genome Med | 2019 |
| 29122926 | Defect in phosphoinositide signalling through a homozygous variant in <i>PLCB3</i> causes a new form of spondylometaphyseal dysplasia with corneal dystrophy. | J Med Genet | 2018 |
| 30055085 | 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. | Am J Med Genet A | 2018 |
| 30100084 | Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. | Am J Hum Genet | 2018 |
| 30323018 | Specific combinations of biallelic <i>POLR3A</i> variants cause Wiedemann-Rautenstrauch syndrome. | J Med Genet | 2018 |
| 30421579 | PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. | Am J Med Genet B Neuropsychiatr Genet | 2018 |
| 30308082 | A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease. | Clin Genet | 2018 |
| 30388405 | Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. | Am J Hum Genet | 2018 |
| 30586382 | Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice. | PLoS Genet | 2018 |
| 29499638 | Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus. | BMC Med Genet | 2018 |
| 29388673 | Expanding the clinical and genetic spectra of NKX6-2-related disorder. | Clin Genet | 2018 |
| 29443383 | 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. | Clin Genet | 2018 |
| 29402896 | Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development. | Sci Rep | 2018 |
| 29656859 | Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. | Am J Hum Genet | 2018 |
| 29371607 | Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome. | Sci Rep | 2018 |
| 28736525 | Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises. | Front Pharmacol | 2017 |
| 28462984 | Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II. | Am J Med Genet A | 2017 |
| 28229453 | Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases. | Clin Genet | 2017 |
| 28434495 | Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy. | Am J Hum Genet | 2017 |
| 28251352 | Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. | Hum Genet | 2017 |
| 28126652 | A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins. | Eur J Med Genet | 2017 |
| 28322503 | A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss. | Am J Med Genet A | 2017 |
| 28288113 | Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. | Nat Genet | 2017 |