| 37935568 | Titin copy number variations associated with dominant inherited phenotypes. | J Med Genet | 2024 |
| 36528028 | Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. | Am J Hum Genet | 2023 |
| 37628281 | Clinical Characterization of Pediatric Erythromelalgia: A Single-Center Case Series. | Children (Basel) | 2023 |
| 37991862 | High-Resolution and Noninvasive Fetal Exome Screening. | N Engl J Med | 2023 |
| 37873196 | Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. | medRxiv | 2023 |
| 37059315 | X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant. | Bone | 2023 |
| 37183572 | Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families. | Am J Med Genet A | 2023 |
| 37280644 | Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States. | Orphanet J Rare Dis | 2023 |
| 37279760 | Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project. | Am J Hum Genet | 2023 |
| 37107537 | Children with Early-Onset Psychosis Have Increased Burden of Rare <i>GRIN2A</i> Variants. | Genes (Basel) | 2023 |
| 36878902 | An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations. | NPJ Genom Med | 2023 |
| 36690831 | Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders. | Eur J Hum Genet | 2023 |
| 36868207 | Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. | Am J Hum Genet | 2023 |
| 34707297 | ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum. | Eur J Hum Genet | 2022 |
| 35844027 | X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition. | Acta Neuropathol | 2022 |
| 35571041 | Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study. | Front Genet | 2022 |
| 36000218 | Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder. | Am J Psychiatry | 2022 |
| 36324371 | Phenotypic Spectrum of <i>DNM2</i>-Related Centronuclear Myopathy. | Neurol Genet | 2022 |
| 35094443 | Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. | Hum Mutat | 2022 |
| 32346159 | Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. | Mol Psychiatry | 2021 |
| 33597717 | RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. | Mol Psychiatry | 2021 |
| 33724192 | Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study. | J Med Internet Res | 2021 |
| 33658631 | Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. | Genet Med | 2021 |
| 34645491 | Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases. | Genome Med | 2021 |
| 34514437 | A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders. | HGG Adv | 2021 |
| 34424265 | Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial. | JAMA Pediatr | 2021 |
| 34232960 | A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings. | PLoS Genet | 2021 |
| 33397769 | A Cross-Sectional Study of Nemaline Myopathy. | Neurology | 2021 |
| 33098347 | Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. | Am J Med Genet A | 2021 |
| 31633297 | Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. | Am J Med Genet A | 2020 |
| 31780822 | Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. | Genet Med | 2020 |
| 32022391 | A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. | Am J Med Genet A | 2020 |
| 31794073 | ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. | Ann Neurol | 2020 |
| 33073849 | De novo variants in MPP5 cause global developmental delay and behavioral changes. | Hum Mol Genet | 2020 |
| 33232677 | Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. | Am J Hum Genet | 2020 |
| 33037864 | Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials. | Ann Clin Transl Neurol | 2020 |
| 32775833 | Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease. | Kidney Int Rep | 2020 |
| 32396742 | Congenital Heart Defects Due to <i>TAF1</i> Missense Variants. | Circ Genom Precis Med | 2020 |
| 31484632 | Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis. | Arch Dis Child | 2020 |
| 30609409 | Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. | Am J Hum Genet | 2019 |
| 30209271 | Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project. | Genet Med | 2019 |
| 31395954 | Infant mortality: the contribution of genetic disorders. | J Perinatol | 2019 |
| 30979967 | Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. | Eur J Hum Genet | 2019 |
| 30735661 | The Genetic Landscape of Diamond-Blackfan Anemia. | Am J Hum Genet | 2019 |
| 30932294 | Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies. | Hum Mutat | 2019 |
| 30600268 | Challenging the Current Recommendations for Carrier Testing in Children. | Pediatrics | 2019 |
| 30514889 | ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis. | Genet Med | 2019 |
| 28726122 | Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. | JIMD Rep | 2018 |
| 29986673 | The BabySeq project: implementing genomic sequencing in newborns. | BMC Pediatr | 2018 |
| 29985992 | BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. | Brain | 2018 |