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| 35186005 | Case Report: A Novel Homozygous Mutation in <i>MYF5</i> Due to Paternal Uniparental Isodisomy of Chromosome 12 in a Case of External Ophthalmoplegia With Rib and Vertebral Anomalies. | Front Genet | 2022 |
| 35629155 | Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy. | J Pers Med | 2022 |
| 35567594 | Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder. | Genet Med | 2022 |
| 33947782 | Familial Autonomic Ganglionopathy Caused by Rare <i>CHRNA3</i> Genetic Variants. | Neurology | 2021 |
| 33522091 | Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. | Am J Med Genet A | 2021 |
| 33847457 | Heterozygous variants in SPTBN1 cause intellectual disability and autism. | Am J Med Genet A | 2021 |
| 34930489 | Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset. | Hum Genomics | 2021 |
| 34587367 | Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients. | Mol Genet Genomic Med | 2021 |
| 33963760 | PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy. | Clin Genet | 2021 |
| 32439973 | Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis. | Genet Med | 2020 |
| 31857706 | Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. | Genet Med | 2020 |
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| 32655138 | Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions. | Genet Med | 2020 |
| 32643838 | The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome. | Hum Mutat | 2020 |
| 30692697 | Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. | Nat Med | 2019 |
| 30158690 | Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. | Genet Med | 2019 |
| 31216405 | Reanalysis of Clinical Exome Sequencing Data. | N Engl J Med | 2019 |
| 31349857 | A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing. | Genome Med | 2019 |
| 31192300 | Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes. | Neurol Genet | 2019 |
| 31101064 | Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. | Genome Med | 2019 |
| 30985088 | Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation. | Mol Genet Genomic Med | 2019 |
| 30920161 | Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review. | Am J Med Genet A | 2019 |
| 30890783 | Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. | Genet Med | 2019 |
| 30940925 | Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome). | Genet Med | 2019 |
| 30827496 | Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. | Am J Hum Genet | 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 |
| 30964584 | A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing. | J Genet Couns | 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 |
| 30787481 | Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. | Nat Med | 2019 |
| 30848071 | Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency. | Am J Med Genet A | 2019 |
| 30520571 | Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. | Hum Mutat | 2019 |
| 29304375 | De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. | Am J Hum Genet | 2018 |
| 30193138 | IRF2BPL Is Associated with Neurological Phenotypes. | Am J Hum Genet | 2018 |
| 30133189 | Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience. | Mol Genet Genomic Med | 2018 |
| 30046660 | Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. | Neurol Genet | 2018 |
| 29961569 | De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. | Am J Hum Genet | 2018 |
| 30057031 | IRF2BPL Is Associated with Neurological Phenotypes. | Am J Hum Genet | 2018 |
| 30349862 | Phenotypic expansion in <i>DDX3X</i> - a common cause of intellectual disability in females. | Ann Clin Transl Neurol | 2018 |
| 30295347 | KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect. | Ann Neurol | 2018 |
| 30266093 | Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. | Genome Med | 2018 |
| 30357877 | Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing. | Prenat Diagn | 2018 |
| 29423971 | Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability. | Am J Med Genet A | 2018 |
| 29501670 | Amino acid-level signal-to-noise analysis of incidentally identified variants in genes associated with long QT syndrome during pediatric whole exome sequencing reflects background genetic noise. | Heart Rhythm | 2018 |
| 29656860 | Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. | Am J Hum Genet | 2018 |
| 29556724 | De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. | Hum Genet | 2018 |
| 29330883 | Genotype-phenotype correlations in individuals with pathogenic RERE variants. | Hum Mutat | 2018 |
| 27577878 | Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. | J Allergy Clin Immunol | 2017 |
| 28388435 | De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. | 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 |
| 28132692 | A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. | Am J Hum Genet | 2017 |