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| 37678612 | Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant. | Ophthalmol Retina | 2024 |
| 37713627 | TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions. | Brain | 2024 |
| 37594370 | The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction. | Prenat Diagn | 2024 |
| 37943610 | Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders. | J Clin Invest | 2024 |
| 37982373 | Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms. | Genet Med | 2024 |
| 36318270 | Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42Â affected individuals. | Genet Med | 2023 |
| 37757828 | Influence of autozygosity on common disease risk across the phenotypic spectrum. | Cell | 2023 |
| 37852978 | Clinical utility of polygenic scores for cardiometabolic disease in Arabs. | Nat Commun | 2023 |
| 37656279 | A founder DBR1 variant causes a lethal form of congenital ichthyosis. | Hum Genet | 2023 |
| 37517035 | Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. | Brain | 2023 |
| 37550531 | PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework. | Nat Genet | 2023 |
| 37993966 | Massive underrepresentation of Arabs in genomic studies of common disease. | Genome Med | 2023 |
| 37612131 | Human 'knockouts' of CSF3 display severe congenital neutropenia. | Br J Haematol | 2023 |
| 37984702 | Clinical and molecular features of four families with CLDN10-related HELIX syndrome. | Eur J Med Genet | 2023 |
| 37644014 | Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families. | Nat Commun | 2023 |
| 35790350 | Bi-allelic variants in <i>WNT7B</i> disrupt the development of multiple organs in humans. | J Med Genet | 2023 |
| 37393059 | Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy. | Gene | 2023 |
| 37459438 | SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission. | Brain | 2023 |
| 37185208 | <i>ARF1</i>-related disorder: phenotypic and molecular spectrum. | J Med Genet | 2023 |
| 37382598 | Correspondence on "Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)" by Deignan, et al. | Genet Med | 2023 |
| 37344571 | BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. | Eur J Hum Genet | 2023 |
| 37144643 | Gain-of-function variants in the KDF1 gene cause hidradenitis suppurativa associated with ectodermal dysplasia by stabilizing IκB kinase α. | Br J Dermatol | 2023 |
| 37272928 | Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. | Genet Med | 2023 |
| 37433860 | Cone dystrophy associated with autoimmune polyglandular syndrome type 1. | Sci Rep | 2023 |
| 37433783 | Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. | Nat Commun | 2023 |
| 37165955 | Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders. | Genet Med | 2023 |
| 37066232 | Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms. | medRxiv | 2023 |
| 36715754 | PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis. | Hum Genet | 2023 |
| 36440975 | ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome. | Hum Mol Genet | 2023 |
| 36399134 | Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. | Genet Med | 2023 |
| 36729830 | LEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME. | Retina | 2023 |
| 36564622 | KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon. | Hum Genet | 2023 |
| 36757664 | Diagnostic yield from prenatal exome sequencing for non-immune hydrops fetalis: A systematic review and meta-analysis. | Clin Genet | 2023 |
| 36305855 | Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. | Genet Med | 2023 |
| 36200388 | Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects. | Brain | 2023 |
| 36357165 | Homozygous truncating variant in <i>MAN2A2</i> causes a novel congenital disorder of glycosylation with neurological involvement. | J Med Genet | 2023 |
| 36129065 | Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings? | Clin Genet | 2023 |
| 36166100 | PMEL is mutated in oculocutaneous albinism. | Hum Genet | 2023 |
| 36385166 | Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. | Mol Psychiatry | 2023 |
| 34741151 | Homozygosity mapping: a game-changer for autosomal recessive diseases. | Nat Rev Genet | 2022 |
| 35482014 | A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder. | Genet Med | 2022 |
| 35841715 | Hereditary Hyperekplexia in Saudi Arabia. | Pediatr Neurol | 2022 |
| 35507016 | The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. | Genet Med | 2022 |
| 35373813 | Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy. | Brain | 2022 |
| 35830857 | Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications. | Am J Hum Genet | 2022 |
| 35603789 | Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome. | JCI Insight | 2022 |
| 35821753 | A Biallelic Variant in <i>FRA10AC1</i> Is Associated With Neurodevelopmental Disorder and Growth Retardation. | Neurol Genet | 2022 |
| 35394428 | The morbid genome of ciliopathies: an update. | Genet Med | 2022 |
| 35861185 | Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome. | Am J Med Genet A | 2022 |
| 35971820 | Consanguineous families with unusually high recurrence risk: A voice to be heard in the germline gene-editing debate. | Clin Genet | 2022 |