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| 36319768 | Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants. | J Neurol | 2023 |
| 37684519 | Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly. | Eur J Hum Genet | 2023 |
| 37821758 | A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome. | Eur J Hum Genet | 2023 |
| 37090188 | A Novel Variant in <i>VPS13B</i> Underlying Cohen Syndrome. | Biomed Res Int | 2023 |
| 37311648 | Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment. | Clin Genet | 2023 |
| 37277705 | Comparison of multiple imputation and other methods for the analysis of imputed genotypes. | BMC Genomics | 2023 |
| 37377600 | Variants in <i>JAZF1</i> are associated with asthma, type 2 diabetes, and height in the United Kingdom biobank population. | Front Genet | 2023 |
| 36788145 | Rare-variant association analysis reveals known and new age-related hearing loss genes. | Eur J Hum Genet | 2023 |
| 36807241 | Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy. | Clin Genet | 2023 |
| 36896235 | The genetic contribution of the X chromosome in age-related hearing loss. | Front Genet | 2023 |
| 36861389 | An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family. | Clin Genet | 2023 |
| 36355422 | Syntaxin 4 is essential for hearing in human and zebrafish. | Hum Mol Genet | 2023 |
| 34135477 | ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment. | Eur J Hum Genet | 2022 |
| 35440622 | Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes. | Commun Biol | 2022 |
| 35698919 | A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family. | Mol Genet Genomic Med | 2022 |
| 35627139 | <i>SCN1A</i> Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families. | Genes (Basel) | 2022 |
| 35456468 | Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family. | Genes (Basel) | 2022 |
| 36039988 | A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV. | Ann Hum Genet | 2022 |
| 36357908 | A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana. | BMC Med Genomics | 2022 |
| 36183486 | Whole genome sequencing identifies candidate genes for familial essential tremor and reveals biological pathways implicated in essential tremor aetiology. | EBioMedicine | 2022 |
| 35150090 | Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant. | Mol Genet Genomic Med | 2022 |
| 34526652 | Correction: Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment. | J Hum Genet | 2022 |
| 34837038 | Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria. | Eur J Hum Genet | 2022 |
| 34321324 | Delineating the genotypic and phenotypic spectrum of <i>HECW2</i>-related neurodevelopmental disorders. | J Med Genet | 2022 |
| 34291353 | Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future. | Hum Genet | 2022 |
| 32709676 | Otitis media susceptibility and shifts in the head and neck microbiome due to <i>SPINK5</i> variants. | J Med Genet | 2021 |
| 33879837 | Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13. | J Hum Genet | 2021 |
| 33715530 | A novel variant in <i>DMXL2</i> gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family. | Exp Biol Med (Maywood) | 2021 |
| 33710394 | Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland. | Hum Genet | 2021 |
| 34946863 | Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction. | Genes (Basel) | 2021 |
| 34800363 | Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. | Am J Hum Genet | 2021 |
| 34345025 | Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. | Genet Med | 2021 |
| 33982443 | Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders. | Mol Genet Genomic Med | 2021 |
| 34265237 | Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm. | Am J Hum Genet | 2021 |
| 34226616 | Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment. | J Hum Genet | 2021 |
| 34135457 | Correction: Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13. | J Hum Genet | 2021 |
| 32978268 | Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era. | J Med Genet | 2021 |
| 32446860 | Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings. | Exp Mol Pathol | 2020 |
| 31985533 | Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations. | Ear Hear | 2020 |
| 31656313 | Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment. | J Hum Genet | 2020 |
| 33114113 | Bi-Allelic Novel Variants in <i>CLIC5</i> Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment. | Genes (Basel) | 2020 |
| 33050418 | Splicing Characteristics of Dystrophin Pseudoexons and Identification of a Novel Pathogenic Intronic Variant in the <i>DMD</i> Gene. | Genes (Basel) | 2020 |
| 32740652 | A quantitative trait rare variant nonparametric linkage method with application to age-at-onset of Alzheimer's disease. | Eur J Hum Genet | 2020 |
| 32951359 | Long-read whole-genome sequencing for the genetic diagnosis of dystrophinopathies. | Ann Clin Transl Neurol | 2020 |
| 32585897 | Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment. | Genes (Basel) | 2020 |
| 32447804 | A non-coding RNASEH1 gene variant associates with type 1 diabetes and interacts with HLA tagSNPs in families from Colombia. | Pediatr Diabetes | 2020 |
| 30661052 | <i>SMAD3</i> pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium. | J Med Genet | 2019 |
| 31798789 | Type 1 diabetes loci display a variety of native American and African ancestries in diseased individuals from Northwest Colombia. | World J Diabetes | 2019 |
| 29925964 | MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants. | Genet Med | 2019 |
| 30032240 | MendelProb: probability and sample size calculations for Mendelian studies of exome and whole genome sequence data. | Bioinformatics | 2019 |