|
| 36282598 | The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2-associated multisystem inflammatory syndrome in children. | J Clin Invest | 2023 |
| 38077956 | A child with dilated cardiomyopathy and homozygous splice site variant in <i>FLNC</i> gene. | Mol Genet Metab Rep | 2023 |
| 37873196 | Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. | medRxiv | 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 |
| 35750755 | A model to implement genomic medicine in the neonatal intensive care unit. | J Perinatol | 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 |
| 37023946 | Pulmonary Hypertension in Infants and Children with Vein of Galen Malformation and Association with Clinical Outcomes. | J Pediatr | 2023 |
| 37183572 | Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families. | Am J Med Genet A | 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 |
| 37433783 | Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. | Nat Commun | 2023 |
| 37230770 | Perinatal-lethal nonimmune fetal hydrops attributed to <i>MECOM</i>-associated bone marrow failure. | Cold Spring Harb Mol Case Stud | 2023 |
| 37131772 | WNT2B Deficiency Causes Increased Susceptibility to Colitis in Mice and Impairs Intestinal Epithelial Development in Humans. | bioRxiv | 2023 |
| 37398376 | Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorder. | medRxiv | 2023 |
| 37162921 | Integrated multi-omics approach reveals the role of SPEG in skeletal muscle biology including its relationship with myospryn complex. | bioRxiv | 2023 |
| 36722669 | Tethered cord syndrome in KBG syndrome. | Am J Med Genet A | 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 |
| 36774516 | Role of genomic medicine and implementing equitable access for critically ill infants in neonatal intensive care units. | J Perinatol | 2023 |
| 36868207 | Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. | Am J Hum Genet | 2023 |
| 36528028 | 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 |
| 35803701 | Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms. | J Med Genet | 2022 |
| 35441180 | Notch1-CD22-Dependent Immune Dysregulation in the SARS-CoV2-Associated Multisystem Inflammatory Syndrome in Children. | Res Sq | 2022 |
| 35768521 | A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene. | Eur J Hum Genet | 2022 |
| 35763354 | Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model. | JCI Insight | 2022 |
| 35746957 | Current Understanding of Transfusion-associated Necrotizing Enterocolitis: Review of Clinical and Experimental Studies and a Call for More Definitive Evidence. | Newborn (Clarksville) | 2022 |
| 36910591 | Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort. | Adv Genet (Hoboken) | 2022 |
| 36708041 | A short-term follow-up study on breastfeeding practices, growth parameters and immunization practices among babies born to COVID-19 positive mothers in a tertiary care hospital. | J Trop Pediatr | 2022 |
| 36000218 | Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder. | Am J Psychiatry | 2022 |
| 36064943 | Integrating rapid exome sequencing into NICU clinical care after a pilot research study. | NPJ Genom Med | 2022 |
| 36192182 | The Phenotypic Continuum of <i>ATP1A3</i>-Related Disorders. | Neurology | 2022 |
| 35916015 | Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome. | J Genet Couns | 2022 |
| 35254387 | Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review. | JAMA Neurol | 2022 |
| 35094443 | Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. | Hum Mutat | 2022 |
| 35304021 | Perspectives of United States neonatologists on genetic testing practices. | Genet Med | 2022 |
| 35294868 | Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. | Cell Rep | 2022 |
| 32346159 | Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. | Mol Psychiatry | 2021 |
| 33794647 | Homozygous <i>SPEG</i> Mutation Is Associated With Isolated Dilated Cardiomyopathy. | Circ Genom Precis Med | 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 |
| 33526876 | Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis. | Eur J Hum Genet | 2021 |
| 33799993 | microRNA-mRNA Profile of Skeletal Muscle Differentiation and Relevance to Congenital Myotonic Dystrophy. | Int J Mol Sci | 2021 |
| 33658631 | Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. | Genet Med | 2021 |
| 34945750 | Reanalysis of Exome Data Identifies Novel <i>SLC25A46</i> Variants Associated with Leigh Syndrome. | J Pers Med | 2021 |
| 34645491 | Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases. | Genome Med | 2021 |
| 34519438 | Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. | Mol Genet Genomic 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 |
| 34186028 | Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. | Am J Hum Genet | 2021 |
| 34072258 | Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease. | Int J Mol Sci | 2021 |