|
| 36690831 | Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders. | Eur J Hum Genet | 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 |
| 37230770 | Perinatal-lethal nonimmune fetal hydrops attributed to <i>MECOM</i>-associated bone marrow failure. | Cold Spring Harb Mol Case Stud | 2023 |
| 37398376 | Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorder. | medRxiv | 2023 |
| 35294868 | Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. | Cell Rep | 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 |
| 35341654 | Impact of returning unsolicited genomic results to nongenetic health care providers in the eMERGE III Network. | Genet Med | 2022 |
| 33037779 | Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. | Am J Med Genet A | 2021 |
| 33555293 | Effect of the p53 P72R Polymorphism on Mutant TP53 Allele Selection in Human Cancer. | J Natl Cancer Inst | 2021 |
| 34945750 | Reanalysis of Exome Data Identifies Novel <i>SLC25A46</i> Variants Associated with Leigh Syndrome. | J Pers Med | 2021 |
| 34818480 | Belzutifan, a Potent HIF2α Inhibitor, in the Pacak-Zhuang Syndrome. | N Engl J 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 |
| 34232960 | A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings. | PLoS Genet | 2021 |
| 34113008 | Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity. | Genet Med | 2021 |
| 33156547 | PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. | Clin Genet | 2021 |
| 32396742 | Congenital Heart Defects Due to <i>TAF1</i> Missense Variants. | Circ Genom Precis Med | 2020 |
| 31780822 | Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. | Genet Med | 2020 |
| 33126568 | The P72R Polymorphism in R248Q/W p53 Mutants Modifies the Mutant Effect on Epithelial to Mesenchymal Transition Phenotype and Cell Invasion via CXCL1 Expression. | Int J Mol Sci | 2020 |
| 32413979 | Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network. | J Pers Med | 2020 |
| 30979967 | Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. | Eur J Hum Genet | 2019 |
| 31395954 | Infant mortality: the contribution of genetic disorders. | J Perinatol | 2019 |
| 29545475 | Olaparib-induced Adaptive Response Is Disrupted by FOXM1 Targeting that Enhances Sensitivity to PARP Inhibition. | Mol Cancer Res | 2018 |
| 27888070 | Phosphoramide mustard induces autophagy markers and mTOR inhibition prevents follicle loss due to phosphoramide mustard exposure. | Reprod Toxicol | 2017 |
| 28203716 | Progressive obesity alters ovarian insulin, phosphatidylinositol-3 kinase, and chemical metabolism signaling pathways and potentiates ovotoxicity induced by phosphoramide mustard in mice. | Biol Reprod | 2017 |
| 28203708 | Obesity alters phosphoramide mustard-induced ovarian DNA repair in mice. | Biol Reprod | 2017 |
| 25911657 | Corrigendum: Ovarian xenobiotic biotransformation enzymes are altered during phosphoramide mustard-induced ovotoxicity. | Toxicol Sci | 2015 |
| 24642057 | Involvement of a volatile metabolite during phosphoramide mustard-induced ovotoxicity. | Toxicol Appl Pharmacol | 2014 |
| 25070981 | Ovarian xenobiotic biotransformation enzymes are altered during phosphoramide mustard-induced ovotoxicity. | Toxicol Sci | 2014 |
| 24576726 | Acute 7,12-dimethylbenz[a]anthracene exposure causes differential concentration-dependent follicle depletion and gene expression in neonatal rat ovaries. | Toxicol Appl Pharmacol | 2014 |
| 23274565 | Glutathione S-transferase class μ regulation of apoptosis signal-regulating kinase 1 protein during VCD-induced ovotoxicity in neonatal rat ovaries. | Toxicol Appl Pharmacol | 2013 |
| 22569170 | Rates of molecular evolution vary in vertebrates for insulin-like growth factor-1 (IGF-1), a pleiotropic locus that regulates life history traits. | Gen Comp Endocrinol | 2012 |