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    1. Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malformations Cell death and differentiation · 2014 · 36 citations
    2. Prediction of gain-of-function and loss-of-function mutations using Combined Annotation Dependent Depletion (CADD) 2017 · 1 citations
    3. Defective trophoblast function in mice with a targeted mutation of Ets2 Genes & Development · 1998 · 301 citations
    4. Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines American Journal Of Pathology · 2018 · 21 citations
    5. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome American journal of human genetics · 2016 · 119 citations
    6. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020 · 34 citations
    7. Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome K<sub>ATP</sub>Channel Mutations in Intact Cells 2023 · 1 citations
    8. Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation American Journal Of Pathology · 2002 · 57 citations
    9. An N-Ethyl-N-Nitrosourea Induced Corticotropin-Releasing Hormone Promoter Mutation Provides a Mouse Model for Endogenous Glucocorticoid Excess Endocrinology · 2013 · 27 citations
    10. The role of fibroblast growth factor receptor 2b in skin homeostasis and cancer development The EMBO Journal · 2007 · 125 citations
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