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| 37921537 | Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature. | Am J Med Genet A | 2024 |
| 36318270 | Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42Â affected individuals. | Genet Med | 2023 |
| 37711075 | Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. | J Inherit Metab Dis | 2023 |
| 37531237 | Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features. | Hum Mol Genet | 2023 |
| 37157980 | Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits. | Clin Genet | 2023 |
| 37124138 | Rare variant enrichment analysis supports <i>GREB1L</i> as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome. | HGG Adv | 2023 |
| 37043638 | Genomics in Clinical Practice. | N Engl J Med | 2023 |
| 37467750 | Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. | Am J Hum Genet | 2023 |
| 37071997 | SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. | Am J Hum Genet | 2023 |
| 36996813 | Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage. | Am J Hum Genet | 2023 |
| 36754017 | Metabolic individuality: Limitations, challenges, and potential for clinical utility. | Cell Metab | 2023 |
| 36724785 | Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly. | Am J Hum Genet | 2023 |
| 36853234 | Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. | Genet Med | 2023 |
| 36598158 | A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. | Am J Med Genet A | 2023 |
| 34605855 | Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. | Brain | 2022 |
| 35471564 | Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. | Ann Neurol | 2022 |
| 35751429 | De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. | Am J Med Genet A | 2022 |
| 36477361 | An ELF4 hypomorphic variant results in NK cell deficiency. | JCI Insight | 2022 |
| 36112137 | Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome. | Genet Med | 2022 |
| 36368327 | TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. | Am J Hum Genet | 2022 |
| 36103453 | Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. | Mov Disord | 2022 |
| 35962790 | Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. | Genet Med | 2022 |
| 36035248 | Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability. | HGG Adv | 2022 |
| 36303224 | The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation. | Genome Med | 2022 |
| 36228617 | Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. | Dev Cell | 2022 |
| 36054313 | Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. | Hum Mutat | 2022 |
| 35948005 | A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode. | Am J Hum Genet | 2022 |
| 36283405 | Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. | Am J Hum Genet | 2022 |
| 35227688 | Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract. | Kidney Int | 2022 |
| 35191117 | Variant-level matching for diagnosis and discovery: Challenges and opportunities. | Hum Mutat | 2022 |
| 35332675 | Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family. | Am J Med Genet A | 2022 |
| 34906496 | Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies. | Genet Med | 2022 |
| 34906488 | Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. | Genet Med | 2022 |
| 35169139 | Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders. | NPJ Genom Med | 2022 |
| 35322404 | El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. | Clin Genet | 2022 |
| 34761517 | Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait. | Am J Med Genet A | 2022 |
| 34816580 | Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. | Am J Med Genet A | 2022 |
| 32381727 | Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). | J Med Genet | 2021 |
| 33576134 | Clinical characterization of individuals with the distal 1q21.1 microdeletion. | Am J Med Genet A | 2021 |
| 33544954 | Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant. | Am J Med Genet A | 2021 |
| 33847457 | Heterozygous variants in SPTBN1 cause intellectual disability and autism. | Am J Med Genet A | 2021 |
| 33847017 | Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. | Hum Mutat | 2021 |
| 33710394 | Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland. | Hum Genet | 2021 |
| 33644933 | Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. | Hum Mutat | 2021 |
| 33658631 | Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. | Genet Med | 2021 |
| 33797191 | A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. | Am J Med Genet A | 2021 |
| 34950897 | AHDC1 missense mutations in Xia-Gibbs syndrome. | HGG Adv | 2021 |
| 35047859 | Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability. | HGG Adv | 2021 |
| 34524739 | Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. | Ann Clin Transl Neurol | 2021 |
| 34407837 | PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data. | Orphanet J Rare Dis | 2021 |