|
| 37491400 | Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans. | Nat Rev Genet | 2024 |
| 36778246 | A <i>de novo</i> missense variant in <i>EZH1</i> associated with developmental delay exhibits functional deficits in <i>Drosophila melanogaster</i>. | medRxiv | 2023 |
| 37614148 | Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population. | Mol Genet Genomic Med | 2023 |
| 37827158 | Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies. | Am J Hum Genet | 2023 |
| 37567036 | Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders. | Mol Genet Metab | 2023 |
| 37314226 | A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. | Genetics | 2023 |
| 37013900 | De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features. | Genet Med | 2023 |
| 35165976 | Novel CIC variants identified in individuals with neurodevelopmental phenotypes. | Hum Mutat | 2022 |
| 35405010 | The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder. | Hum Mol Genet | 2022 |
| 35796094 | Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia. | Am J Med Genet A | 2022 |
| 35449147 | Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data. | Sci Rep | 2022 |
| 35655070 | Complex effects on Ca<sub>V</sub>2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder. | Sci Rep | 2022 |
| 36206744 | De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement. | Am J Hum Genet | 2022 |
| 36332614 | The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. | Am J Hum Genet | 2022 |
| 36361815 | Cluster Analysis of Short Sensory Profile Data Reveals Sensory-Based Subgroups in Autism Spectrum Disorder. | Int J Mol Sci | 2022 |
| 35340043 | An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain. | Ann Neurol | 2022 |
| 35294868 | Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. | Cell Rep | 2022 |
| 33350591 | Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype. | Mol Genet Genomic Med | 2021 |
| 33644933 | Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. | Hum Mutat | 2021 |
| 33864376 | Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features. | Hum Mol Genet | 2021 |
| 33665635 | Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation. | HGG Adv | 2021 |
| 34950897 | AHDC1 missense mutations in Xia-Gibbs syndrome. | HGG Adv | 2021 |
| 34716609 | ABCD1 and X-linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models. | J Neurosci Res | 2021 |
| 34314705 | TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. | Am J Hum Genet | 2021 |
| 34113007 | Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. | Genet Med | 2021 |
| 31743320 | Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia. | J Pediatr Hematol Oncol | 2021 |
| 33443317 | MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. | Ann Neurol | 2021 |
| 31595648 | Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. | Hum Mutat | 2020 |
| 31971667 | Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemia. | Mol Genet Genomic Med | 2020 |
| 31769566 | Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. | Hum Mutat | 2020 |
| 31767637 | A Genetic Screen for Genes That Impact Peroxisomes in Drosophila Identifies Candidate Genes for Human Disease. | G3 (Bethesda) | 2020 |
| 33134290 | An SCN1B Variant Affects Both Cardiac-Type (NaV1.5) and Brain-Type (NaV1.1) Sodium Currents and Contributes to Complex Concomitant Brain and Cardiac Disorders. | Front Cell Dev Biol | 2020 |
| 33232675 | BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. | Am J Hum Genet | 2020 |
| 32356556 | De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. | Hum Mol Genet | 2020 |
| 32330417 | De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. | Am J Hum Genet | 2020 |
| 32169171 | Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. | Neuron | 2020 |
| 32371920 | Biases in arginine codon usage correlate with genetic disease risk. | Genet Med | 2020 |
| 30275510 | Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. | Genet Med | 2019 |
| 31742229 | Digital necrosis in an infant with severe spinal muscular atrophy. | Neurol Genet | 2019 |
| 30190611 | Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. | Genet Med | 2019 |
| 31498321 | In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila. | J Vis Exp | 2019 |
| 31227826 | The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases. | Hum Mol Genet | 2019 |
| 30850373 | De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. | Cold Spring Harb Mol Case Stud | 2019 |
| 30622101 | Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition. | Cold Spring Harb Mol Case Stud | 2019 |
| 29478781 | Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. | Am J Hum Genet | 2018 |
| 30193138 | IRF2BPL Is Associated with Neurological Phenotypes. | Am J Hum Genet | 2018 |
| 30057031 | IRF2BPL Is Associated with Neurological Phenotypes. | Am J Hum Genet | 2018 |
| 30304647 | Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. | N Engl J Med | 2018 |
| 29529134 | The expanding neurological phenotype of DNM1L-related disorders. | Brain | 2018 |
| 29502918 | Inborn Errors of Metabolism Involving Complex Molecules: Lysosomal and Peroxisomal Storage Diseases. | Pediatr Clin North Am | 2018 |